{fr Evolution - 1-

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EVCTl]l ION
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Tà5LE CF CCiilENTS

1. tJisto rica I Tntrod uctio n

2- origin of tife

(, 3- Determinants of Ivolution

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It. l'lathenratical Theory of Evolution
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5- Forma tion of Races ancl SPecie s
r-)

(-) 6- The Tncrease in ccmplexity

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7 - l|olecular Evolution
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B- PhYlogenetic Anallsi-s
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C; 9- Biological and Cultural Evolution and Thej-r fnteracticn

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 l,voLution -2-

fl ISTORIC AL .tìiTiiCDUCTIO II

The theory of biological evolution states that living beings

have a coilnon ori.gin and have differentiated and evolved througb the
ages from a presurnaLly unique primary living form. This conceFt, cr
indeed the lriore Eeneral concept that the '*hole universe changes
constantlyr'rJcìs not cxtrarreous to soine Greek philcsopbers, tut e !,i

rust come to the lBtb and the beginning of the 19th centuries to see
it propounded in clear terms. An alternative hypothesis is that the
species nolr existing l,ere created as such; tbis 17as standarcl dogma,
".)
ruost1y on religious grounds, stenuing from an interpretatiol of
Genesis and rerair;s torlay only among some strictly orthodcx
t)
bel i evers
il It is uostly to J- B. lamarck {1S01} that ne oue the idea tbat
evoluticn takes place throlgh arìaptation of life to the environrent.
()
Lamarck believed that ailaptations acguired during life can be

(ì directly transmitteil to the

1rroEeny a concept that modern
elperi-ments have rejected- ft was only after tbe middle of the 19th
{i
century that Charles Darrin and A. B- fla11ace independently ailvanced
() a theory that could explain hox arlaptation to the environment takes
place- This is the theory of natural selection, that is,
of preferential survival and multiplication of individuals that are
fitter for the environ*ent in uhich they 1ile. The theory
presupposes that there exists a variation that is inberited. Àt ttrit
(_
time the theory of inheritance and of the origin of ner variation
\.'

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(-,
 Iv o1 u tion -3-

)rere not de.,,e1oped. lhe generally acceptcri tbeory of irrheritance r.las

first put forxard by G. I{enrlel in 1865, Lut !{as not knoun and

accepted unti-1 the year 19C0. (Sce Cenetics, tiistory-) Sirilarly,

the understanding of hor neu variation is generated Has to begin in
the present centurl- ft is, perhaps, iron-ica1 that among the
cpponents of the tlieory of evolution ;-as one of the uell-knoxn
paleont-ologists of the f irst part of the 19th century, Cuvier. It is
fron the accirate sturly of fcssils tlrat lle h.rve the best prccfs of
the contiruous transfornation of living beings, and of the existence
in earlier ages of plants and animals quite different frosì those
livj ng today {see PAtECTiTCICGY) .
-"i It !/as mostly Charles Darrin, helpeil by several foflosers anil
sympathizer:s, vho fought and uon the battle for the theory
i :t
evolution. This century has.-itnessed consideratle developnents cf
this theory. The idea of ruutation as a random heritable change was

first put for,,rard by UeYries(i{oo-D3). The development of t}e

chromoso me theory of inheritanc€ by t. H. t{o rgan and his associ-a tes,
experinenting with t_tggh1}a melanogaster, threu great light on tbe
rechanisms of inheritance anil its physical basis. The studies by E-

J- lluller put on firm Eround the concept of mutation uhich was

initi-a11y based oD unsatisfactory experiments. Einally, in the

seconil part of this century, the prcof that lliÀ carries the genetic
information of living inrlividuals, the discovery of its structure,
:l and the Hay in rhich it can change ancl hor it affects protein
synthesis ancl the development of the xhole organi-sro (see Genetic
Code) strongly confirn the viev of the unity of living beings and
i

)
 E..rol ution -q-

their developirent by evolution from comaon ancestors-

The study of evoluticn at the molecular level was made

possible by the structural knorledEe cf pr.oteins aecÌ nucleic acids,

and vas initiated by Zuckerkandl and Pauling. The study of natural
populations, pioneereti by Cetverikov in the tr-enties, 1ed to the
discovery of the encrnrous amount of variation existing in natural
popr-rlations. Eecent tecliniques such as p:ctein ejectrophcresis ha"Je

sho*-n t-hat i;roLaLly errìry Eene is present in nlore tban cre form in a

population sufficiently large of one given sI,ecies. DoLzhansky and

(t his associates have accuaulaterl an impressive Lody of knouledge

:o
the genetics of natural populations, supplemented by a great nunber
[-: of experiments of evolution in laboratory conditions, nostly in the
genus !_f_q:eLli]". fnevitato1y, in latoratory €xperinents on evoluticn
one r*itnesses only relatively sra-11 changes, ccnsiiiering the
\" -l sÌouness of biological evolution and the short time that experiments
can last uhen compare,3 ritb the time avaj-lab1e f or evoluticn du ring
rl
the developeent of tife on the earth. These studies are sometimes
:l callecl 'rmicroevoluticnarTrt as contrasted riith the study of
,raacroevoluticnr.
rJ
This century has also xitnessed the development of tbe
uJ mathematical theory of evolution, uhich has taken place eostly in

I
tbe r20rs and t30rs due to the efforts of R- A. Fisher, J. B- 5.
Haldane, antl S. liright- Sone of the mathematical problems poseil in
-) the mathernatical t-heory of evolution have helped in stimulating the
grovth of a nes bra-trch of mathematics, the theory of stochastic
_j
processe s-

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 EvLrlution -5-

C RIGT }I OI I,IFE

The praperties of living teings derive mostllt frcn tuo types

of macrololecular substances uhich play a inajor role in biological
processes, nucleic acifls and proteins. liucleic acids (particularly
tNA) have the f unct-icn of f orming pr,cteins (see GE IiETIC CCD[] and
also of being copicri iirto r)cH I i,A e hich traitsitits the inf orrat j-cn
for making the same proteins to the next gerierations. Nucleic acirls
are therefore recognized as the physical carriers of inheritance-
They form about half of the total ccmpositicn of chromcsones, the
re$ainder being proteins, some of rhich are probably of importarce
in vhat can Le ca11ed the program of development of an orga
,. l

The problem of ttre origi-n of life is thus in part the problem

.) of the origin of nucleic acids and proteins on earth- Laboratory
experiments have sho";a that aninoacids ( the elerents of x hich
\ì
proteins are formed) anil also nucleotide bases (from vbich nucleic
lt acids are formed) can originate under suitable conditions fron
sinpler substances rhich rere present in the earth's atuosphere,
[]
such as uethane, ann,onia, and rater. other exp€riments have shoun
L; hou these substances can pollr,erize forming resPectively
polypeptides (tbe sain constitueats of proteins) anil
(l
polynucleotj-des. Hou nucleic acids and proteins got together to foru
() a first organisrn is sti11 difficult to understand- There is, at the
monentr no evidence for the existence of 1j-fe of the earthly type or
U
other planets, although the possitility of its existence is not
(-'

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 iv ol ut ion -6-

deni ed.

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 Ev o1 u tion -1-

LETERJYIIìAI'ITS OP EVCIUTICN

The major tietersinants of evolution ui11 be reduced for

simplicity to three: trutation, selection, ran dom genetic ilr if t.
Cther factors, such, as miEration, Hill be treated along uith drift.

l',ij1ÀIICli. Tiic ;.ri'pcrrrance of ner,J genct.ic variants is kncun to

be a rare, fdndcin, .1 rtd sudden event. There are several different
categories of mutaticn shich deserve to be treated saparately. À
{'i
gene ilutation, sometimes cal1ed Itpoi.nt mutatj.onrr is a change tco
(") smal1 to Le detected by optical microscopy- Electron microscopy has

not been developed to the stage '-here it can recognize gene

r.:
mutatiotìs. Changes that can be tletectecl by optical micrcscopy cf
ij chromosomes are usually referred to as trchroncsome mutaticnsI cr
rrchromosotte aberraticns'l-
L.l
Gene nutations are often the result of the substitution of ore
("1 nucleotide base ,,cith another on€. This rrill 1eail, about ll3 of tbe
time, to the change of one ari-noacid rith another (according to the
o
genetic code) in the prctein synthesized uniler information contairred
o in the gene in which the nucleotide sutstitution has occurred. Thus,
Hhen examined at the protein 1eve1, nany mutations are single anino
o
acid substitutions. f n r.e11 stuòietl proteins, al most every aminoacid
C,i has been shoun to be able to be substituted by another, titb fec
,. except j-ons rihich are explained ty the f ac t t hat substitu tion at
LI
those aminoacicls uoultl probably lead to tbe complete loss of
(i
(_)

(.,
 Evolution -B-

funr.-tjon t,y the protein, and hence to a non-viatle individual- The

delr:ticn or addition of one or tco nucleotides in the DNÀ chain {or

any number not a multiple of 3) viLl r-esuIt in corrìp1ete cbange cf
the aminoacid sequence in the protein synthesized after the deleticn
or addition has occurr:ed, and of ten premature terrnination of the
to Le
chain uhen a ftnonsense.r tL'ip1et kufPens/formeA. This is known as a
',frameshift nrutationrr and is tell explai.neil on the basis cf l-he
Iiro[)ert-i.:s of the genctic cor]e. Cn tire othero.V hand, a deletion cr
fq
(., addition of three nucleotide bases in a ro;)11ead6 to the loss cr
addition of an aminoacid. Srrch nutations have teen knoun tc cccur ty
(t
comparison of proteins xhich have a similar crigin (see later)-
The frequency'*ith uhich mutations appeaE varies greatly fron
gene to gene, ancl €ven uithin the same gene with the individual
aminoacids ancl nucleotide sites. fiutation ra tes a re usu a1 l1

estimated counting the number of gauetes mutated at a given gene-

e'c1,
Gametes.pà the ce11s {such as sperm and egg) rlhich produce
individuals of the r;ext generation by fusion of a nale anil female
gamete, anil therefore this estiraticn of mutation rate refers to a

time unit of one generation. Hutaticns can occur not only in gametes
or gaurete-forming ce11s, but also in sonatic ones, but are then cf
no consequence for the frogeny. llutation rates have been estimated
in several organisrrs for several genes. fn genera1, there is a
tendency to overestimate average mutation rates because Eore

frequent mutants are aore often selected for analysis- Trying to

eliminate this bias, L'ìutation rates in nan are of the ord€r of 1

every 1,000,C00 gametes per gene per generaticn- Similar estimates

 Evolution -9-

are obtainerl for or!ani:-;ns uith a sh<;rter averaqe life length, such
as mice and tlrosopbila- Bacteria proLably have a loHer average
putation rate- I{utatj-on rates ar€ prcbably under the ccntrol of
natural sel.ectj on. Cf ten nutations are deleteri-ous f or the organism

and an excess of nut.ations yould Le tlisatlvantageous. It is tlerefore

likely ttrat natural.selection vi11 tend to 1ouer, cn averag€r the
rutation rate-
Thr:se rìre rr:,il,citi-efleous ri,utaticn r.ìtesrr, that is ftutdtions
uhich occur spcrrt.fneously $1th no known cause. Part of this
spontaneous muLation rate is due to the effect of the radioactive
background around us- The exact fraction is not knoun, but it mat

I only be a rnatter of a feu percent, and in species of animals' e-9-

insects, uhich have a slorter life sFan than mamrals it may be 1ess.
._t
factors other than the rar.iioactive Lackground, tlereforer contrituie
.) to the spontaneous urutation rate- A great number cf chemical
rutagens are knc!rn toilay, but it is d if f icult to say uhich
particular ones aay be important in the determination of spontanecus
I
mutation rates. An evaluation cf the total nutation rate oveE all
genes, and also of the average sutation rate per gene is difficult;
)

the number of genes in an organisrn is not exactly knovn. lf all the

fNA nade proteins, and a gene sere considered as a unit making a
protein or part of it, then an organisn such as man night have
J
several million gen€s, jurlging on the tasis of the DNÀ ccntent of
J his cells. Thus, even though the mutation rate per gene per
generation may be very 1oH, every gamete may have undergcne mutaticn
of one of the many g€nes it contains-
I

")

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 Evclution - 10-

Ctler types cf ru tations are deterrnined by b:-eaks in the

chromcsol es, usually f o11c-*ed by a re joining of the segments in a

positicn different criginal position.

from tleir Several t;rpes cf
chrorrr osorne mutations can cccur. À rrdeletion'r or
t'deficiencyt' is the
Loss of a chronosome scgrient; a ttduplicationtr is the duplication of
a segment; an ,tinvcfsionrt is the colrsequence of two hreaks of one
cÌ:rr-rmcsome, fo11o,*:cd by the insertion of the interrediate segnent

.rft.r:r a Iot.rlion of il{t de;rces; and, final}y, arrtranslccaticnrr is

tire attachment of a piece of chromosome to another one- This is
cften reciprocal, that is, tuo chromosofles participate j-n the
exchange. Chronosore hreaks are easily induced by radiation and Ly
!
some cheniicals, but they also seem to cccur spontaneously- Thel
often have effects at the pbenctypic 1eve1, and sollie of the ncrst
,j
genetic diseases observeil in rr<in rìr€ the conseguences of chromoso'II,e
ì
aberrations-
A1so, the nunher of chroncsoiles can change- Xost animals and
\,
plants are diploj.rl. that is, they have a duplicate chromosome set cf
I
vhich one set cotnes from the father, dDd the other fror tbe motber.

:ì Simpler organisms ale aore often haploid, that is, they have a
sinqle chromosome set- Some chrcmosomes nral occasionally be found in
(r organism, leading to the
\_r a single or triple dose in a diploid
condition knoun as monosony oI trisony, respectivell- À typical
o
example in nan is tl:e Doxnrs syndrotre, formerll ca11ed rrilcngolist0rr,
ti lead.ing to serious physical abncrmal itl, The nhole chrou,csoGe set can
be duplicated, leading to rpolyploidlr'- This is also called
0
rfaut.opolyploidy,, to distinguish it from rraflopolyploidy't. uhich
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 Evolution - 1',I-

results r+li€rì the ganr:tes of tvo different species fuse ard the
resulting individual undergoes autodiploidization. In such

allopolyplcirìs, aLso caì1ed ttamphi-oiploids", both chioiirosore sets cf

the two di ferent parental species are rey^resented tvice. this
phenomenon is of irl,ortrrnce in the origin <.:f ne!{ species and xi11 te
considered 1ater.

tiA rI U .ì rìL SIIEt'iiC:i- i/,ilt-;ttion prorluce-s the ralJ tiaterial tcr

ge riet ic var iation on utri-ch natural s election acts. the chanEe that
has o CCU TI C d in DNA is ra:rdon in the sense that it is not directed
k j o..,r,r
in an \fwaY by the organisu. The phe rotype of the argarism ray te
,, alter ed Ly the mutation, and three 1; ossibilities emerge: the change
may be adva ntageous, have no effect, or be,lj-sadvantageous. Changes
affec ting i n a t1 etrirnental ,,lay impo rtant functions are inevitablY
delet e rious and of te n co irpletelY 1 ethal to the bearer. DiploidI,
hoHev €f, PI otects the orjanism from the effects of at least some of
._)
these mutat i-ons those that are r€ cessive (see Gene). It is 1ike1Y
'l
that di p1o idy may Lave developed Ly natural selection, as it
const itu tes a protectj-on against r€c essive mutations that take place
)
in ge rmi-na1 and scmatic ce11s. The u nì-on of a gamete containing .a
-l
recessive mutant @ *ith another gamete which does nct
"] carry the nutant';i11 give rise to a norral individual- Thus

recessive mutations can hide anil to sofie extent accunulate in

-, populations before natural selection can t.leed then out- Selecticn
riil1 occur only r,lben individuals both carrling the recessive
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mutation in one of thei-r chromosomes rnate r and thea the r€cessive

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 Lvoluticn - 12-

tyI,e vi11 be observe<l in 7/q of tlre progeny accolding to the

ller:rlelian 1au,s. It is at that staqe that natural selection can

cpcrate for cr against a recessive r,utaticn, deirenCing cn !.hetlrer it

is advantageor,:s or disa,lr,'antao€cus-
Some of the recent stuients of lrolecular evolution have

sperculated that rarr? u:utaticns r,ay be selectively neutral. that is,

determine no selective advantag€ cr disad.vant.rge f.at their carriers.
Tìie prcportion of rrcuLr*rl r.ruLatj-cus is still d:.fficu1t to cvaluate,
hut the inrportance of natural selection in urolding the species is so
great that it is difficult to lelieve that rost urutati-cns are
neutral. Horeover, verl snaLl selective effects are difficult to
I
evaluate, but may sti11 be important. Cn the other hand, it is nct a
priori 1ikely that a frcquently arising type of mutant nould be
advantageous, because if it !{ere,.ird had cccurred hefore, it xculd
easily have been atsorbed by ttre papulaticn Ly the process cf
natural selection- Crga:risas all have a long evolutionarl history
)

behind them and therefore shov a ccnsiderable adaptation to their

environment, unless this bas changed recent 1y. ilost frequent
advantaEeous mutatj-ons nust, therefore, already have been adopted t1
the organism, and ne,.rly appearing rutations are not 1ike1y to te
arlvantageous. In addition, ccnsideration of the physiological
complexity of a living organi.sm indicates that nanlr nutaticns can be

disadvantageous. An organisn, to be a1ive, must Le functional i-n all

its essential parts, .rnd any deleterious nutation affecting only oDe

of them Hill result in a ron-viable or less vi-able organisn-

Those organisms rhich for oile reason or another leave
 Evol ul i on -13-

descenCants (o:: Cescentlants ttran ihe oihr:r:s, on average) are autoratically

f er^,rer
eljminated from contributing to the successive generations. If the reason they
have a smaller nunber of or no descendants is genetic, and therefore transinissible,
the ger,.etic co:.rditicr-r '.,hich is ::esponsible f or the hanCi cap will be aulcr:ratically
eli:-ninated. Conversely, if an individual has more proteny than the average the
c,:irdition r"ihj-ch deternines its leaving more progeny is inher:ited, i.e., is trans-
;l r:-.rible to the progeny, it L,i1l tend to increase autcmatically in future gener:ations.
Thus, natural selection is an autonatic process r^'hich tends to f z:vor the f itter
t),pes , (f itter being thcse'i",,ho leave more than the average nunber of descenCants),
:rnd disfavors the less fit t1,pes, defined as thcse -!iho leave fer.,er descendants.
Ì{atura1ly, this }ltnd of selection can opeLate at tl.re cvol utionary level only on
an inheriied characteristic. If the variatlon is non-genetic (that is, the trait
is not inherited), natural sel.ection for or against the trait will have no conse-
quences at the evolutionary leve1. The trait in question will not- undergo truly
evolutionary changes.
The above is the concept of Darwinian or intragroup selection. Tne question
has been::aised, "Can different gr-oups of cne species show natural selection of
an tintergroupt type?" This type of selection can be observed by comparing the
demographic developinent of dj-fferent groups of one species in their different
environments. The group occupying an environmental niche which is particul-arly
favorable will develop greater numbers, and if it differs geneiically from other
groups, the average genetic composition of the species will change accordingly.
This is especially visible in mrn as a consequenee of technological change,
which has deepii altered the ratios of the various ethnic groups.

RTNDOM GENETIC DRIFT. Adaptation to the environnent is a dete::ministic

phenomenon, but random phenomena play a role in evolution through the effects

d:<!,-.,.:-fi . --n
l:
"-_ ìr"q:,_--::,,.-."
 +
Evol ution -L4-

of chance in ìlendeliarr segregations, the random appearance of new nutants,

and finally the phencne-non r,rre specifically called "ranrlom genetic drift." .

This is ihe ef f ect of statistical sa:p1ilr3 f l.ic tiiaticns of gene f ::.:quencies,

u'hich is the consequence of the infite pcpulatlon size of any living c::ganism.
Tne concept of gene frequency rav require sone explanatlon. If a
gene exists in one population in several alLern.:tive ti'pes (the alternative
types being ca11ed "al1e1es"), the relative f::equerrcy of any particula
a11ele of that gene is ca11ed the freq,.re;1cv of that a11ele. A gene frequencv
., ca.n be ineasur:ed at any stage during the 1lfe cy,c1e. C.g can siudy gene fre-
. quencies arnong gaircl(ls; anong z,vgotes j ust produced, or anong zygotes at
various stages during their development. The statistlcal fluctuaricns of
gene frequencies is a function of the nurnber of corlparable indj"r,,iduals forrning
populition, increasi ng r+i th .tlecreese. of tìre nunber of iirdiv j dua1s. The
. real statistical bottleneck ls ther:efore'the number of se>luall1' mature and
reproducing lndividuals in a population. Thesè are usually a sna11 fraction
': '' -of 'a1l 'tiie ganetes. or 'zl",gotes 'produced,-"and'it is'th'ese indrviCuàls'that will "' '

form the next generation. In fact, r,7e can conceive of the genes present in
'' 'the'e.,,r^ily irature adults as'a sarnple obtajned fron rhe gametes 'producàd ilr'
the earlier generation. If there is no natural selection cperating on the
. gene 6eing ccnsidered, the fiequency of its a11e1es vrill le a ràridorn sample
of the alleles present in the earlfer gcneration.

q.-_.+

-*.i*ffi§

{}.!r' i --§
 Evclut-ion - 15-

Af. the gene is subject to r:at-ura1 sr:1cction, the gene frequency ri11
Ì:e modified Ly the nat.ural selection, but the random sampling effect
vill aiso be pre-.ent. Simple pi.cLability La',,is, and in particular the
tinornial distribution, alloy the prediction of the probatility uith
;-hich any ge:,e frequency can change in the rrext generation Lecause
of this random sampling effect, given
the gene frequency in the
parental generaticn- Tf the pcpulaticn is 'sra11, the variation
in ,jilne fre'ji,ic:ncies will Le largcr, and if it is 1arEe, tle
variation '.lill be su,a11er ..: t to the bincnial distriLution. In
g:nera1 the ragnitude of the sar,plirrg fluctuatiorrs per gen€ration as
rneàsured by the staridard error are proportional to l over the square
root of N r+hen I is tire number of reproducing adults (or Fore
exactly, the 'tef f ective population size'r) - Thus, rith very ssa1l
fopulations, it is pcssible iand even 1ike1y) that an a11e1e may te
conpletely unrepresented in the n€r, generaticn and therefcre te
1ost, or it ilay represent the only one in existence
in tle next
generation, in Hhich ca:ìer §€ say that a11e1e has been rtfixedtr. The
chance of fixaticn cr extinction is a function cf population size.
Such statistical fluctr:ations take place at everl generation and
have cumufative properties. fn fact, it is the E€ne freguencl, at
everlr generation that determines that of the next generationr iDd if
it has been 1ol.ered. b? a random saopling accident, it is from the
ts-orer gene f requency that tle future generation ni11 be forned- If
I
t

I I
I it has been increased, tbe gen€ frequency of the next generati.on
L--gif f be obta ined as a saraple f rr:m a higher gene f requency. Figure 1

shovs the fluctuations ohserved in some simulated populatioas

 L-,ro1ut ion - l6-

undergoing ranrlom gerrctic drift- Icr,: ,,ri11 be said atout this

phenomenon when He di-scuss the rrai':rem.rtical theory of evolution.
-r,ilien changes in the -;ho1e species are considered, tle
po1:ulation size that counts is that of the uhole species which is
usually large- fn st.udies of rricrogeograplric differentiation,
licrever, the si-ze of the i-oca1 grcups are to be used for estinating
the posslble effect cf drj-ft and these flay be snal1- lihen suLgrcups
r:f a species are cr-.rltl;iueterì, po:;sib1e excl:,-IIr.Je of individuals
betreen the subgrcups {migration} has to be taken into
corrsideration. This is usually reasured as tlre fraction cf
indivirluals entering the sr:bEroup from other suLgroups per
generation (m = nigration coefficient). C1ear1y, the higher
/5
nigratlonf, the less the subgroups vi11 be alloved to drift.
I,ligration can thus counter-balance the ef fects of drif t, and it
I
sufficiently high, can practically uipe out its effects at the
microgeographic 1eve1. It is, therefore, not surFrising that smaller
I
po[,ulations that are highly isolated (i-e- have very litt1e
.) imu,igration) shor+ greater ileviations fron the rest of the species-
Part of this deviation is 1ikeIy to be due to drift, but tbe
I

possible influence of adaptation to special environmental conditions

I
is also to be rememtereil ancl is not €asy to eliminate in individual
-''t
cases.

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 Evolution - 17-

iiIlilE}:ATICAL'1I]I]CFY CF EVOIUlICN

fn spite of its complexity, the process of evolution bas Leen

suhjected to analysis ty mathematical methcds. This afprcach has

been success f u1 be-c;ruse of the recog nition o f th e ma jor dete rninan ts

previously listed ;rnd knorledqe of the naqnitui.les cf the
coefficients -tire ;iiathet.at'ca1 treatrient of
ilivolvr:a- nutaticn
sel-ection and mi-gration pr oc€sses can be of deterministic t ype,

i-e-, ignore sampling f1uctuations, rhen populations of large {in

theory, infini-te) size àre ccnsidered. If it is necessary to take
I
account of tire finite size of real populations, then the treatrent
nrust be stochastic anti is rnore difficult nathenatically-
DiploiCy intrcdur:es ccmplications uhich are easily overcome
I yhen conditicns of racilom mating occur- It rias shcr,rn at the
beginning of this century independently by G- H. Hardy and §.
I

lieinberg that, uhen pating raith respect to a given gene is randou,

I
and the gene frequency of a11e1e A is P, that of a11e1e a is 9, uith
g = 1-p, then i-n one gerreration an eguilibrium is reacheil in irhictr
-)
the three gerotypes, Aà, Ao, ad, have the frequencies pV, 2pq, qY
"L respectively- A gene frequency p {of À) is obtained from the sum cf
4'+
the relative frequ":.y of the homozygote/n1us half the freguency
t,I /b-
of the heter ozygotef ?his equilihriura i-s easily extendeil to Ean,
*J a1le1es, and conditions for its vaì.idity are infini,te populaticn
size, equal fitness of all genotypes, true random mating- Under
._]
these conditions and in the absence of mutation, gene and genotype

i
 Evolution - 1B-

c
L re,lìiencies uill rernain indefinitely stable- This is the prop€rty of
i nvariance of Hendelian systens, lrhich tlistinguishes the tlendelian
!
hecry from earlier theories cf inheritance. Utider the model cf
i
I nheritr:rrce suggested hy Galton in the last centurY, uhich ditl nct
r ecognize t-he particulate natur€ of the deterninarts of inheritance
a nd their relative,invariance, the genetic variarìce Has halved at
e .rery ger;cration and trad to be ccilp€nsated for by an enorinous amcunt

of neu variar-ion, tot-a11y incorpatii:1e with uhat is kno';n at present

(
on the 1ov levels of nutation rates.
The deterininistic treatment of urutation and selection under
(-r
C onditions cf rariCor urating i-s casy. Poth gene and consequently
() I enotype frequencies *i11 clìange under the influence of rutation and
q
election. The rate of change and the equilibria reached.can
{t
d etermined by a -i1,ptre forrnula- for the study of selection,
fr ll fitnessl values have to be given to each genotype. The fitness of a

s enotype is, to a first apprcxination, the relative nucber of

II
q exua111r mature descendants expected for that genotype. ff se denote
A
," ,A
/\ thu f itrress of AA, L;y y{ tfr. f itness of Ad, and y{ tf.r. f itness
!r.,0'
'\i\
('
o f aa; the genotype frcquencies before and after on€ generation of
q
election 'ri11 be:

Genotype Aà §a aa
I n4)
È-f
n -t)- -
Cr
Freg- before selection 2pq M
(i Fi t ness
f A
C; Freq. after selection 'Av z'f*a ArV .a& o-o-
t, -,F ,,, FI
2/
i_J
1
 Evolution - 19-
vVr P
z
+ 2d*Pt + w-5t <l
-7-

The quantity fr is also ca11ed the irean fitness. for t.he purposes of
siudying changes in gene frequencies, it is igmaterial rhether one
uses relative or atsolute fitness values. To comp rlte relative
fitnesses, one of t-ire x quantities is put equaì. to 1 and the others
standartl izr:d ,with resl ect t-o it. For a nore aCcurate assessrent- cf
fitness values as f isher has shoren, qualltities analcgous to net
intrinsic grouth rates {r in denographic wcrk as defined fcr tbe
fundamental equation of population increase and age distri ution
given by lotka) shoulil be ccrputeil, taking into account both a9e

specific anil ilori-aLi+-ies ci each genotype. The sì-mp1er

fertil-ities
fitness xreasure given by the Pean number of children rho reaqh
raturity is an approxi:ration of e\ 'r,lhere T is the generation time.
The change of gene frequency in one gcneratj.on is given by
aP= P,.-P (')

Pr --(w, F,t"(-fq) /a
and p1 is the gene freguency after one generation of selection and p
is the gene frequency of the earlier generation- By setting ÉP.qua1
to zeto and solving for values of p anil g, ore can obtain values of
gene frequencies at equilibriuu, narely, Bhen the gene frequencies
do not change any f urther. llhen !,4 = ,ùA = nA a here is nc cha nge.
xhen *,4. A. nplo' fl S À. 4". 'pts 'r§.r,. esuilibriun
values are p = 0, q = l, uhich corresponcl to imination of À
^. el- and

LÉ, U--[
 Evol ution - 20-
fixation of a- i,rhcn Vtr';t"i{, or "fpÉÌ"4, oruA.y{<-A, the r ev erse
is true. rf lA is st'al1er (or greater) than the fitnesses cf ei th er
hcno zyclote, y\ and {1, then equilit-ria 'jif fererrt frcm 0 and 1 ex is t.
Further analysis shovs, trosever, ttrat xhen tbe h elerozyqcLe, a, is À

at a disadvantage uith respect to both hoirozYga tes Ofi<r/1,"fi1 + l"a

, rle

equilil:rium is unstable and any n iltor perturb at ion ui11 1e acl to

fixation, t-cwards 0 or 1 in acc<;rd with the directio naf
pertrtrbation. i{hen the het-erozygote is at rlrl advant;:ge, na re ly

lP"/L *p. tl,en a staLle intermediate equiliLriu $ exi-sts uhic h can

be obtained by solving eguation {1) after sett ing AP= 0- N otable

cases of such equililria due to Leterozygote advantaqe have been
found in manY anin,al specles, esLecially t1 rosophila and tran-

Classical exaiiiples in :rìan are';ickle-ce11 an€n i: rnÀ *ha'i aq- comi: !\- an} v

'

and j-n both cases tbe a'3ent cf selection is ma1 aria uhich is le ss
1ethal to heterozygctes than to the normal ho $ozygote, rihil e tbe
Jenrl to
hoinozygotes for sickle cel1 anemia or thalasse rnia I
/ die tecau se of
anenria, zrlso in the alsence of ralaria-
For a study of tbe kinetics of selection, the direct so lution
of the f inite dif ferelice equation of type (1) is r not possible except
in a few sinple cases. For the sturly of the moreI complex case s, it
is customary to go over from the discontinuous t reature nt g iv en 1n
'equation {1) to a continuous treatarent substitut ing AP by dp/d t anil
solving as a differential eguation. Alternat ive1y, a numrerical
solution of the finite difference equation is easily availabr1e by
using a computer wj,th equations of type { 1). fig iure 2 inilicaterS SOme
selection curves co$putecl by the latter method-
 eS
; - *r{-l f fvolution
o$ git.v' 1"t'- -21-
t"#t*t#"^"t3j+!flcjerr ts/ rs) are usually t-he ccrrlement
to 1 cf
fitness,.rtre=/.t::i;rii."a uittr respect to one of th" PÒss,ul.
usual ly ÀA t/tuYin tl'e CrlSe cf he ter:ozyqote /nenctIFes,
terp.iìally advantage) . cle arly the
rate of the sele,cticn pLocess is a function
of the selecticn
coefficient' Figure 2 sLoxs some ex,,ìmples af different
rates of
selection as a function of different selection
ccefficients-
Fisher has shoNn b1 an important tlìeorem
(the fr:ndarrental
theorem of natural :.eler:t,i-oi:) i hat trrc rate
of increase in f itne ss
n'rtural seLecticn is proportional to the
".^"tn,Ltr
variation iif titn"==- TLese trea, rrents
of selection depend on the
assumption that selection coefficients are
constant. rf they vary in
tiner as is rore like1y the caser or if they are dependent on the
gene frequencies' inet'i+'-ai;1y ilor€ compìicated situations
arise.
HoHever' these eguations supplr at least
orders cf magnitude for the
action of natural selection'*hicb is the fastest
and most in:portant
agent of change in gene freguencies
ffutation rates a10ne can influence gene
frequencies and the
€quation of change is generally

1- p_ -:--<A3 -: blPl AP = ,1 .- t,p

vhere ilu is the mutation rate fron À to a an,cr nu

is the inver_.e
nutation rate fron a to A. Eguilibria intermediate
betveen 0 and 1
exist and are easily co&puted fron equation
{3) , but the order of
magni t ud e of mutation rates is usually
so much smaller than that of
selec tion rates that it is unlikely tLat
equilibria due to mutation
 r,vol ution _')')-

aloIe play an inrportarit ro1e. ft is casily shoF-n that to reach tlie

rutation equilibririn, e.9. st.rrting from p = 0, the aPproximate tire
required is of the order of the inverse of the irutation rates, and
tSerefore easily 1,0C0,000 geiì€rations, a very long evolutionary
time- Fast selective changes n:ilY acccmplish the saile result in a
ratter of on111 1C0 or 1.000 generations
The conbination of the effects of ruta tion pressur€s and

sel.qction rrì-e3srlrcs cn t,|e sarìe ECne is easily oLtained Ly corbining

their action in a single equation- The rnost irrLeresting equiliiria
that are thus studied are those of selection against deleterious
rnutation. s WiÉfi, recessive and rloninant deletericus mutaticns, the
gene j-es at equilitr ium var y conside raLl y in the two ca ses '
-1:_gsrrenc
4o the tr+o cases, vhere s is the selection coefficient cf
beilq!ana/in
't
the disadvantaged J.henotype (s = I * ,r for standard j zed relativ,e
I
fi-tnesses w) ana/tne rrrutation rate to the deleterious al1ele- fn the
case of recessive mutations, much lrigher gene frequencies are tirus
reached uith selection of the sare strength, than for dominant
putations. In lìtf. cases, hofl€ver, the nuinter of individuals
affected by the tleleterious trait in the population is essentially
of the order of the mutation rate if the trait is high1l deleterious
{s = 1). There are tvice as rany af fected in t}ie case of dcminant as
in the case of recessive mutations at equilibriuut, assuming the
mutation rate is the sane- 8€cause rutation rates are so lon, the
freguencies of defects deterrineil by deleterious mutation at a given
gene are therefore 1cB. But as genes are numerousr ore can expect a
uultitude of genetic di**eases, each being different from the other
 Ev o1 ution - 23-
(at Least at the tiocL*::rica1 leve-l) if it affects a different ;en€.
Cne does, tlerefore expect to find a gr-eat multitude of genetic
disease, each of tht:m rare. Ihis is t: ue in the cl:ganism uost
stuclied in t his res[.ect, ran, Hhere tLe nunber of genetic diseases
knoun is of t.Ìre order of thousands. Each of them is rare, apart from
a fer,r exc'rptlons (.Sìr.al{y Cue,to .i.{v^,,t-a1e
"f tI.e- ":

hets:razygote r às is t-he case of thalassemia and and sickle

cc11 anciria
r;rting in:ìorie cases is not respected- Ihis is true for
Randorn

a fe'* genetic tliseases in $an and for aany traits of social

importance. 'r,lhen the llating is non-random, it is called
ttas§;ortativerr or ttr-l isa:;sortativerr, or also positi-ve or negatì ve,
depenrling on rlhether like rates xith like or unlike nembers- A

matSernatical treatment is sti11 available, but is made rore complex

by the fact that each of t-he possible inatings must te treated

separ.rtely. Hith two a1le1es and three genotypes, ds before, there
are ni-ne possible matings. Some simplified cases have teen studiecl
exterrsivelv -:-d tleir results are in the literature. These studies
rnostly refer to a single g€ne. [hen tuo or more different genes

interact, the trcatinent tecomes more complicated. Eoreover, genes

that are on the same chrorloscnes are inherited as blocks, barring

r€combination. Eventually eguilibria ui11 be'reached, but in some
cases linkage ,,diseq,_rililrium.t nìay be otserved eithef because

equilj-brium has not been reached, or because selective conditions

exist in the systen irhich make the combinations of the sarious genes
in the genotypes not equally fit. The study of many gene slstems has
 Ivol ution - 2U-
cnly started antl it is revealing itself to be of great interest.
'o
ffA,,other lnorlc1 in whictr Eìany gerìes are assu ned to af f ect a single
character in a ufat.ive fashicn tras been in use for a long time,
cur;

sjnce the oriEinal fa[)er on the ttcorrelation betueen relatiYu=tt was

published by Iisher in l9 18. In this case, tlre trait may be expecteil
to show, dt least un,Jer som€ conditions, a normal continuous
dist.ribution. This type of analysis is referred to as 'Ibioretrical
!cpLlticstr or the str-irl y of ttpc11'gerric inheritancerr. The characte r
=auar"U ree,f not be.or,arnuous in nature, but may
be discontinuous
if there exists a distribution of genetic liability and a liability
threshold al-.ove uhich the character can manif est itself - This mcdel
has been used to explain soue diseases and also sone norlnal traits-
The study of polygenic systens is ccmplicated by the fact that
these characters are usr:a11y strongll affected also hy environmental
conditiolrs. !ìhen these carr be irailrtained constant as in laboratory
€xperiments, the anallrsis can be carried to some degree of
precision. In some exceptionally'eel1-studied cases, one can furtber
identify the indiviilual genes that rnake up the polYgenic systelr-
This is possible houever only in experimental organisurs in which a
great nunber of mutants are readily available as in Lfg:lgEls. I'lhen

organisms are sturiied directly in nature and the trai.t under

investigation is knolln to be affected by environmental diff€rences,
the distinction bet,;een environmental and genetic effect is of
greater dif f iculty anii ,ray be irpossible unl ess the orga nism caD be

groun in stanilard lahoratory conditions- Biometrical genetics has

been especially fruitful in applications to plant and aninal

 i:v o1u t ion - 25-
i.reed ing.
Another deviation from r;rn«lonr r.rting, sj-milar Lut iiifferent in
principle from the assortative rnati.ng described bef{lre, is that
resulting f; om the rating betreen close relatives (inbreeding). This
has been largely pract,iced by plant and animal breeders in order to
obtain so-ca11ed pu-re 1ines, that is l-ines conrpcsed of individuals
al1 poteltially i<lentical to one another for their genotype- Iuch
thcr-,retica1 uork Ìias teen done to ccr:pute the probatility that
individuals have Lecone hoa,rozygous for a given gene after a given
number of generations xhen this particular systen of mi', ting is
practiced over màny rlifferent generations. The closer the
relationship, the HOre effective is the
irbreeding syster.
Self-fe:-tilizat-icn is the c1os,:st systen of j.nLreeding avajlatle,
but it exists practic.rl ly only in some plants. Broth€r-siste r inatiqg
and parcnt-offspring *atings are also Corxìon1y practiced ty
breeders. Ttre coefficient of inbreedirg (f) has been introduced ty
Seua11 !triqht to measure the prolaLility of horczygcsì-s fcr a gelre

present in one (or rnore) anc€stors of an indivirlual resulting frcm a

given perligree of inbrecding. These results are of special interest
to breeders and have been extensivelY used by them-
Hhen one considers the finite size of a population, the
)
outcome of an evolutionafY process is given in terms of
) probabilities. Thus, if a population of finite size is subject to
drift a1one, the final outcone xilI be either fixation or extinction
I
of an a11e1e present initially uith a frequencl p- The protability
'!
of fixation j-s p and that of extincticn is its complement, 1 - F-
. trvclution -26-
Ttre probirbility distribution at;ìny tirc after the beginning has

been givcn in dctail. tlhen other evolutionary forces are added to

ran,lom drift arise, es[;eciaJ,1y if selection
a1t>ne, corplicaticns in
fÀen
a Ciploirl or:ganism is introduced. nesults l,u.te/to be cbtained by
reans of approxitrratjon rethods- In particular the diffusicn
approxj-nration has Leer shoun to be very useful. l'iany ci the resù1ts
obtained by approximation rrethods have becn cortfj.rmed by siniulation'
a :;tarrrlard Procedure in
r,athenatics r,rhen exact analytical treatment is di f f icult cr
irnpossible and appr-oxirrate procedules have to be used. A fe-rr results
cf more general int-erest ri11 be u:enticned
TLe probability that a mutant type present initia111 at

fre(luencl ii\^ at ',-ire t :0 in ,ì i,apulaticn ;il-1 everrtua).1y be fixed

in a population of finite size has been ccmputed tcth in the
presence and absence of selecticn. In particular it is of interest
to consider the fate of a ner mutant alle1e introduced by fresh
putation into the tcpulation and ruhich wilt not recur in successive
generations- If the r1,.ilt-ation is selectively -neutra1, the final
probability of fixation is 172t1 where § is the population size-
{Ihis should be conl:uteil on the tasis of the lrurber of sexua1ll
rature and active adults and is not the total census of a
population- It is often referred to for greater clarity as EIfECTM
population size. ) À niutation which is even mi1d1y deletericus has no
probability of ever being fixed except in verlr sma11 poPulations-
fven if it has a selective advantage, a mutation has a fairly large
probabilì-ty of becoming extinct, esp€cia111 in tbe first generations
 Ev .,1ut ion -27-
uhen tlie actual nuinhers of mutarrt individuals are sra11. It ha:: Leen
shoun that if the selection coefficient of a neu nu tant is
sufficiently snrall to he of the crcler of inagnitude of 172N, a;rrutant
Ciiì be corrsidered as qu.rsi-neutra1, in the sense that it undergoes
the fate, more or 1ess, of a perfectly neutral al1e1e. Even
adv;rnt-ageouS nutaticns, uhich do not have a 1ar'ie sel.ective
advantage, Eay be accidenLally lost scon after introduction- Thus a

nutatioe, ,rri..sin,g cr:1.y oIlce in a I'opuJ-atiort, haS a large chance cf

being lost by sarpling accidents; nevertbeless a fracticn of these
rrutants ui11 everrtually be fixeil even if they are neutral cr
guasi-neutral. For these, houever, the average tine required before
they are fixed is larEe -- of the order of l+ Èl generations. This tire
uor:1d be considerably shcrtened if sel-ectj-an in favor of the n€11
nutant Nere present, and xi11 be shorter the larger this se-Lective
advantage. Thus, in a sfecies ccnposed of one million individuals,
it malr require four rnillion generaticns for fixation of a neutral
gene, but a nutant riitb a sefective advantage as high as i0* cv€r
the noraal type {one of the highest values otser ved for an
advantageous mutation) saI be fixed in a fen hundred generations. A

uodel of mutation nhich bears an especially close resemtlance to

natural contlitions is ore in which every ner mutation that arises in
a population is considereil as a neu al1ele- If the nutation rate for
this gene at each generation is ilu, it has been -shown that if these
neu mutations are neutral, the average rate of substitution is egual
to the reciprocal of the mutation rate.
Another result of general interest is the computation of the
 ivolutjon - 28-
nurriber of al le les expect ed to be fotlnd in a Ijopulation at a given
Eerìe at equilibriu.m l.ctuecn rutaticn and other forces. If the force
eLip,inating neu mutatioss is i -e. saiiìp1ing accidents,
crily tirif t,
tlcn one can compute the exp'e-cted proportion of individuals
horrrozyqous f or a given gelle as a[.!]-oxinately 1/ {1 + 4timu). The
irrverse of this quarìtity, (1 + 4Nnu), exliresses an average cf the
nunber of a11e1es e:.pecte<ì at that gene. Unbi355i:d estinates of the
nunh.,r of a1 present !er gene cn averaqe are nct Iet
1e1es actually
availal:1e, but roughly correspcld to the values that would cttain if
that for the organisns investigated {from Drosophila to ran} , lÌ
{considered for the xiiole species) is approximately of the sa§e
o-S
orrler of maglitud "f1,7*r- The number of a1le1es present at a given
!cne'*i11 increiìse, hoaever, if selecrion fcr the heterù7.ygcte {a1so
ca11ed staÌ:ilizing of heterotic selection) is present. In soffe cases
there is direct evidence stirbilizing selecti-cn. ID solre others
evidence is indirect, and rnany geneticists think that heterotic
selection is widespread in nature- llhis phenoltienon is soretimes
referred to as genetic lroneostasis.
tiuch theoretical r+ork has been tlone to obtain the distriLution
of gene frequencies exp-ecteil under conditions of randcm drift'
especially in asscciation Nith other evoluticnary forces. If random

drift alone operates, àL infinite time fixation of one al1e1e and

extinction of all others is exp€cted. ff, houever' mutaticn keeFs

introducing neH a11e1es, possibly helped by stabilizing selection or

by migration betueen <lifferent subgrcups of a species, then a state
of equilibrium may result and a steady state distribution of gene

,)
 fT olution - 29-

may be coìnput.ed- Exan:p:1es of such steady :; ta te

frr:qucncies
distr-ibutjons are given in Figrrre 3. They indicate that the gene
freqilerrcy e:xpected in a papul-aticn ui11 be found to oscillate arcuncl
an expected va1ue,;bich uttCer scfire ccn<1 itions fiìay be Clos€ to zeLa
cr one and riniier ot-|eIs it may Le iiiternrediate . The ineaD and the
spread of l€rr)e freqrrencies expected in the steady state depentl cD
the lropulat-icn size arrfl the balancil:J evoluticnary forces, :rutation,
:tai:i 1izinq selccticn, ()r nrigration. '[hese, if properly rieasured may
have sinilar effect to one arrotl,rer and may be inserted in tbe
pararreters U and V irrricated in Figure 3- Thusr migration Iay act
like nut-ation or like sLabil;_zing selection of equivalent intensity-
Further thcoretic.rl lork has teen done to measure the effeCt
I

of mi-gratìon or cttier balancing forces (tt'utation, siabiiizing

selection) in copnteracting the effect of tlrift -,rhen ttre poirulatipn
is spread over a v.rst 3{rographical rìrca {and locaI differentiaticn
.i
is observed). These xiodels are often cal1ed inodels of isolaticn b1

.: tlistance- They have been studi.ed theoretica 111 both in continuous

1
and rliscontinuous sface- In most situations, the similarity betueen

two populations is found to dccrease exponentially rith tlie distance

.J betryeen ttrem, but iiine nsionality of the geog raphic distributicn
seems to play a rcle- Individuals distriLutert on11 alcng cne
t..-.,

dirnension (e.9., those living oo a Coast-1ine) shoB a greater

i) variation xith dj-stance than do those distributed over a space in
tyo climensio ns. These norlels lnesitably intrcduce a numLer of
il
simplifying assumptions and the analysis of real data may souetimes
(.J require more refined aethods vhich t i11 not be discussed here-

(.:

(,;
 lvo1ut,ion -30-
. Appliciìtions of these nathilr.atica1 r;ode1s to real data has

l--cen possible in a variety of insta irc es a nd ha s Prov ided

consiclerab1e insight into the dynanics of ev c1 utior)arY PLocesses -

)
 i',/clution -31-

DIi;F'i.IHEIJ'IIATlC11 O TilE ALCiITATICIi CF E,TTCES At'D SPiCIES

'.i

Spe,:ir:s of plants and anir::.r1s, colsjdered two centuries ago as

fir:ed and ir,rrrutable, unCergo a coniiiucìls prccess of transf«:rmaticn
and what se observe at any gi.Jen tire is a pLase in a pl:ccess which
is horrnrl to contirrue ir:definitely. 1o the scientist uho laid tbe
fr:undatirtris of rJ,li:Lrì t.ixorìoi:y, Lilti.jtjus, :;pccies *-cfe a unit
iir and

minor virriat-ions betyeen individr:a1s belorging to a species cauld be

disregarded.
All the history of taxonciny inrlicates that it is difficult, i;
practice, to state unacrLiyuou-.;1y if tr,ro dif f €ren t grcups cf living
orEanisuis, otviously closely related but also sbolli-ng sofie clear-cut
differences, belcng to oae or tro different species- This, hoxever,
is not due i-o a lack of a clear-cut tlefini-tion of species. It is in
part- due to the f act that t.he process is a dyna mic on€ ' and everfr
phase in the fornration of neH species may be encountered; but also
to the fact that j.t is frequently difficult in practice to applY the
operational rules vhich could be used to define rhether different
gro'rps rlo or rlo not helong to a given sFecies.
The modern bioloEical concept of a species, ,rhich Daruin Yas

unable to de f he gave to his f undamental

ine in *-pite of the title
uork, The Origin of ,;,. Species, oHes much to the ,rork of tobzhansky
and l{ayr. By definition, a species is a set of individuals uho .are
potentially interfertile indefinitely. The importance of indefinite
fertility cannot be underestimated. ft rreans in practice that genes
 Evolution -1)-

can be exchanged without Liuitation uithin the group- The capacity

t.o r:xch,1 nge genes def-erriires the calacity to forn ne$ cornbinations
of ge ncs. The nurber of potenti-a1 neu com Linations is enorrnously

high, and will thus a11or a ccnsi-rleraLie pl.rsticity of the species.

that i.s, the r,eet ,iìeH environr,tntal cor: diticns
capacity to and

thrive in t-hem. Evcn, if tuo grouRS dLe isolated e.g. by gecgraphic

tarr-iers and do rrot exchiìnge indivirluals and therefor-e gell€s, as
ì.on,3as tÌiey keep tlie 1,<;ti:nLiaI ce1:.icity to ,l<.1 it, t-hcy tlf€ stil1
biologically one specie^s, even though they may differentiate from

one another quite extensively tecattse of drift ancl adaptation to

d i f fe ren t env i r o n n,ert ts.
For t-tils biologicrrl def inition of species to be va1id, it is
tìec3ssary that sexual reproduction be pr€sent in the organism
concerned. Asexual re1;aq;{uction is for:nd in soi{ìe plants and anirp.als,
but it usually is ccnsidered to be secondary to a sexual- stage and
to lead to an evolutionary cu1-de-sac. Even the louest organisttts,
including vj-ruses, tend to shol, modes of reproduction xhich af 1or

gene exchan{€, though a true sexual dimorphis& or a regular sexual

tlifferentiation carnot alHays be deutonstrate,cl. À1so, in several
plants that are phy-sio1oEica11y her:naphrorlitic and uould rcrnally be
subject to self-fertilization, t1:us decreasing the benefit of sexual
propagat ion and increasing houozygositl, mechanisns cf
rself-incompatibility.t hase developed which make cross-fertilizaticn
the ru1e.
The advantage of sexual r€production in evoluti"on can easily
be visualized by the following simple model. Suppose an organisn
 Ev o1 ution -33-

belr-;nging to a species tras ,lcvelci;cd by nt tl ta tion a f avoral:1e genetic

trait rehich He shal-t ca,L1 A, rcservitrg the term a fcr the !ore
Colltrìon, ori.ginal, do<1less advaltta:ecus type- .r,ircther individual cf
ttre saflre speci-*:s ]ias developed allother atlvant-a'geous characteristic,
B, t-o istinguish it f rr:ra t-lre co,:11 Cn, less advan tacr:ous f crm b. ]f
<1 iT|

it is arivantageous to have both geletic traits A and B in the sare

in<1ivi,1ua1, as j-s u..ual-1Y the case for uìÌrel'ateal traj"ts, then a
syst.err perrrritting tlre casy forli.,rticI) uf AB rniividuals ui11 have
advantages over orì,: yhich does not easily have this possibility. In
an asexual orqanism, tLe;iB individual can cnly arise hy uutaticn
from b to B in t-he A c,rganism cr fr<;m a to A in the E organism.
Eutations are rare and therefore the rlevelopment of the $or€
advantageous dorrble r.iut-ant type, AB wi-11 be rare. 'dith sexual
reprodr:ction as the ru1e, tbe for;nation of the Iecombinant type Ali
is,rsually *uch aore frequent. fiore rigorous niathematical analysis
has showed that the fornation of the AB type is at least tvice as
fast in sexuaì-1y as in asexually reproducing populations- Thus, the
capacity to exchaDge genes increases the chances of adaptaticn. It
has also been shoxn, h.oxayer, ttrat in sore cotditions a ixture nr cf
sexual and asexual rei)roducticn miqht be arfvantageous for the

species. The formation of nelr species mdy take place abruptly,

niostly through polyploiily-This is certai-n1y an 5.rnportant mechanism
in plants, but probably rauch rarer in animals- A neH species arisen
by polyploidy does not usually give rise to fertile progeny uhen
mated to the original type- For instance, a tetraploid' rhen nated
to a diploicl, gives rise to triploid progeny vhich is sterile as
 ['roluticn -31{*

'I
§'J"s
no:;tfgarietes Ìrave r_lr,b<l 1;.:, nC,Jd chfOIr)oljolrie set,s, ti,ade at randcln of one
or t,wo ili€ribers cf e;tch i;air. This may in part r-:xplain Hhy palyplcidy
is rarer ;lmorì g anirals uhich do not lave a...exual reproducticn, as an
inCividual arj-sen by i.olyploidy r:-.;ua11y carriìct lrapagate if sexual
rep::oduc ion is the oi;1y n'eans of reproduct,ion. Tlere are other
reasons i, ostl-y ccnrtr:ct-ed i.'ith chroinosome balance I'hich nay

contribute in nakinq polyploidy rar€r in anirals.

Àutopolyplcidy, ti,e forr:atiun of a i,olyplcid Ly doubling cf
the chronosore set cf one ce1l, is kiioun to occur spontaDeously
fairly frequently in plants and is easily intluced experimenta).1y.
The posr;iLility of initial asexttal propagation of such clones nìaI

account for the forratinn of new polyploid species. Cn ttre other

hand, dtrothcr node of for{:.:tion of falyploids, a11opolyp1oidy, has
been sho.*n to be i-nport-ant. this aay f ol1ou f ron irterspecif ic
fertilization, h,trich in plants is easier than in animals- !n
a11opo1yp1oid organisra betlreen tuo distant species uay reproduce
only asexually, anrl ray shou physiological irnbalance. If, horever,
it has undergone at so$e stage spontaneous diplcidj-zaticn
(amphidiploid) it may sho? norrnal capacities both in terms of
physiology and sexual reprorluction- Such arnphidiploids have been

produced experimentally and have been observed to occur in nature-

À rare chromoso!ìe mutation is that resulting frou the division
of the centromere, that is, a division aclossr rdther than

1or:gitudinal1y, wi th respect to the chrofiìosoae axis- Èost

chromosomes have ar$s usually of unequal length oD the t*o sides cf

the centromere. llisdivision of the centromere causes a chtomosome to
 i,volution - 35-

separate into its tl*o iÌrlts which t!,d'l continue independent

reprorluction, thus increasing tire total chror,osotrtal hai-1oicl nurber

by 1. This is tlie rr,echanism beli<:vccl to Le resPonsille fcr the
increase of the nur:Ler of clìromosores. Ctirer .rberrations a-Lso help
to expì.ain ho'* chrc;rlrosoilles can change in nuni:er and shape'

Translocation ilay r, ake them longer or shorter. Jilver:sicn may alter

the pos itio n of the then the in ve r,sion i ncludes lhe
c;:n troffere
ccrrt-rcr,ere, thits ch:it,iinE tIe relative 1en;th cI tire ti*o alns Of a
chromosome. Chromosonles,nutatictrs nay get fixeC in a species thrcugh
drift or nat-ura1 selectic;n, sin:i1ar1y to gerre rnut-ations and ttrus
nake possjb1e the evolution of chroilosome nu:rbers and shape'
If polyptoi,ly perrits the aLrupt forruaticn of ne!, species' in
practically all the for:;ration of neu species is a
cthr.r cases,
gradual process. It is lririely rilcognized today that this process
usually takes place through geolraphic :-solaticn. This is ca11ed
allopatric speciation in contrast to simpatric speciaticn ahi-ch is
the orig j-n of dif f erent species in the saae gerre ra1 geographic area'
through other urechanisars , e.9., ecological isolatj-on, etC' Sosre

authors, especially Èia1rr, deny that simpatric speciation has re;:11f

played a role- fnevit"rbly geoglaphic isolation is accompanied hy the
adaptation to souterihat different environments and in addition it
favors the establishment of clifferences through randon genetic
drift- It may take a long tine, hol,ever, tefore an interspecific
barrier is created, that is before intersterilitlr occùrs. thus, it
is possible tlat phenotypically clearly differentiated organisms are
still interfertile as shorrn by laboratory experiment, or ia areas of
 Ivoluiion - 36-

6verlap betxeen Ìre,'ir <ìistribut-i,:ns. Lifferctrces under isolaticn

dÉrvelop -s1ou1y, as all biolorlical e'.'olut-icn is s1cu, and the
fornation of specific rliffercnces rna.y require on the order cf one
rillion years- The process of oifierelll-iation going an in
papulations r.:hich are isolated from one ariother can be detected at
any stage by dn ob.se{ver. ThLìs a1} rlr:gr€es o f di f f erentiation can Le
:;Élen belcr tlre s;t-rictly inteltsi,etif ic le'.'e1. Pci-;ulations that are
exa11 ineij ',;iri1e I'r:1t"', i'otcr'tia11-y ':t lcast' to ttre 'saIe
t-lii.r y :tilL
species, but shou sorne degree of variation {practicaJ'1y everY
papulation is slightly rliiferent frorn any otlrer), ilray te calleil in
different rlays: deEles, ecotyFes, races, geoglaphical raCes,
sub*species. ì,lone of tliese terms j-s very precise or useful, since
the thresholrl that;iiatters from an evolutionary point of vier,l is
onl-y the one uarkin,; a specific differencer oo one side of uhicb i;
r
interfertility and on the other is intersterility. Even this
threshold, houever, ciìn be reached grarlually andr/or in stepS.
Sibling species are an interesting example. These are species
urorphologlcally very similar, but exhititing som€ degree of speiific
differenti-ation, frcn an inccinplete fertility to a complete
sterility, and inhabitir:g a similar area of at least sharing a part
of it. For instance, Drosophila pscurlooLscura and persimilis forn
hlbrids, but hybrid u,ales are sterile, Hhile females are ferti.le
uhen i:ack-crossed tc eitl-rer parental species.
ilechanj-sms of int-erspecific sterility are of various nature.
some of them are precoprflatory, that is, copulation cannot or does

not occur- others afe post-copulatory, and hlbrids can be forurecl

 Evolut-iort - 37-

uhich are steril-e or tio not rlt:'Jelcp. : ccording to so$e authorS,

iratural sr:lection puts a prcnittm on j nterlpecific sterility
Ì:arrier.s, il}i€jre the rJif ferentiat ion tlrat Ìias 1ed Lo the foruation of
different populatioris in iiifferent ar.ras has developed enough that
hyhrids, even t-Ìrolrgh they are forrr,ed and are fcrtile are rrct
suf f iciently adapt-eil i,o eit-trer €nvironire nt- According to others, the
,

devolopnent of si-erilitI is largely accidental. It shculd be

reii;eiirbered th.rt in ,l 1l tlai:ura1 poi-ulaticns exaliined, even Lf
belonging to a Iestricted ar€a, the amount of genetic variation in
existence is aluays extrcn,ely large. Even a single individual
{-arr:ies hete Lo:.yg.):iitY at a great fraction of g€nes' This llas rt"i
knoun or clear a sliort xhi1e aga before ar:alysis by electrophoresis
of proteils ade it iitlssible to strldy a rarrtlom sample of genes, oI
a:

:I]or3e>rct1.ytheir5'rotciIpro1]Itctsfor!encticvariation.AtcuLLl'3
ì ^, .uiò 'o*y
of all proteins stu.lied/slrou. . the existence of more than cne a11e1e
as put in evidence by arino acid substitutj-ons ìeading to

electrcphr:re tic differe::ces. As electrophoresis can pick up an11 a

fracti-on of a1I changes that can take p1ace, àld probably nc ilore
than l/3 {perhaps even less on average), the rule is that altr'ost
every gene contai-ns variants, some of uhich exist in substantial
prcportions in a poPulation.
Several hundreds of thousands of dif{erent species exist'
abcut five tirnes ilole of them being aninal than plant species. Nev
species must continuortsly be forsred, and sPeCies iaust also becone
extinct Nhen they reach too lox numters of nlen they neet uith
environmental changes *hich turn out to be catastrophic for them. A
 -EvoluLion - 38-

1;roi,r1em still incor: 1; 1r:tc1y unCerstocrl is that a fer,, species seem to

h:ve r:trrlergone a fe-- ch,;n,Jes cver lcrg geclogi-ca1 periCds, giving
rise to t-tre phenomenon of "1i-vi-ng fcs-si1s'r - It Lr.ls belj eved that
this might he du.e to tlie destruction of genetic variation in
species, but probai:1y ttie revetse is true. an d a hi gh degree cf
genetic homeostasis h:rs l;een reached in t hese sPecies, pcssibly
through rnechanisrs .rf/6"t-rtryq.t" "c rt-::11:ilizing s:f9:§C
t,.r rxore conplex n; echar:isms).
 Evclution -19-

i,!i }:LCGL:i f TIC A }i A L Y SIS

i{ith t}re advent of cor.Luters, it has becclt;e possiLle to h; irtltre

a great nurrber of olscrval-i.ons on a great nu irLer of individuals cr .a
great number of species, and liius t-o atterrrpt the ailplication cf
oblect-ive rnethods of cla:;slficat-ion to biological nat-eria1. Ttus,
so*calicd,rl:uiÌìefical t.rzoL:-: irìYrt 1..ì:i coi-e into existence arld attraCt€d
a certain nuiirber of investigators. Even thouqh the nethcds
la
thus
-:Act t,
develilfed can be consirlered as nor€ "cbjectiv€'r, the ain's\/reached
/\ by
-
sgch classificatory uethurls have not aluays been made conpletely
cl_ear. In particul.rr, it is not clear if such iiiethods can serve the
pllrpose of ilelineating "pl,ylogenytr of species. for
the this
particular purpose, it :;eeliis 1-ri-cferaLle to resort to nethcds that
clearly specify an evolrltionary norlcl and analyses on this basis the
available evidence''rhis is ca11ed phylogeletic analy-sis ard should'
in principle te distlnqriished from numerical taxonolny, ev€n thcugh
the results of the tuo types of methods ilìay in so{ne instances be

very c1ose. Different- Bethcds of phylogenetic analysis have teen

suggested, some of .chich cepend on assurlrptions of constant rates cf
evolution, others only on the assumption of independent evolution in
isolated populations, anil others sti11 have enployeil the criterion
of tminimum evoluti-onu to reconstruct phylogenetic trees- The last
criterion is the least qenetically satisfactory, but gives results
siinilar to tho:, e ottained 'rith other nethods. An exanple of
application to some huran eLhnic gloups is given in Figure lt.
 Ev,;lution -r.1u-

Clearly a corplete phylr:gerietic ;rrr;"l1ysis rletrrands tle integraticn of

da'i a fr:orii al1 sourccs, Valc:ont,ological (i f available), genetic,
rrror.pholoEic;r1. physiolcgical, etc.'*hen tested seÌìarate1y, gertetic
traits h.rve p::oved n()le powr:rfu1 in reconstructing uhat is presumed

to be i|e ccrrect l.hyloEenetic t-ree than strictly mcrphological

tra,its. Unfortunatel,y, t.lie forr,cr are nore difficult to obtain than
the latter. 1t is cl,-ar in .;circral that purely ncrphclogical
arlairtation, or suFerficia-l pirysiolcr;ica1 adaptation, may mofe easiLy
reflect the similarity of environnents than true phylogenesis- flost
r,r:rphological anrl pliysiological traits have a polYgenic basis.
para11e1 or ccrrvergent evolution has been observed in ranY

groups of aninals and plant^s: thus Irarsupials developed forms that

closely res€mb1e those develcped by mamnials in other ar€as.
Superficial tnorplrolog-icaI analysis may indicate a cuch cLcser
similarity than wotil d obtain if genetic analysis eere avaifable, as

in fact, sinilar results rray be reached because of natural selecticn

in related environnents by entirely different gene ccmplexes- Thus,
if para11e1 evolution ohtains in grcups developing in separate but
si-ri1ar environnents, the genetic basis of their evoluticn nay te
quite different and shoy clearly cnly uhen the difference is
examined at the ger€ 1eve1; Fure inorphological similarity vi11
reveal, instead, that the environments Liere sinilar. Unfortunately,
for the great najority of species, olly morphological ald souretimes

physiological data are available. Especially for extinct foluts,

morphological data are the only cnes in existertce- In addition, the
paleontological record. has a nunber of gaps, and therefore it is not
 Ev ol ut i,on -q1-

suri)risirg that the lhylogenesis <tf living oI-ganisms is sti11

inccilp1ete, al.i lrough :;o[re r:f the ir ajor branches and in some ca-ses
the evolrrticn of :;utgr.Ìiips over )ong i:eriods has been r€ucnstructed
in consirJeraLle detail.

I
 ivcl ution -u2-

JIUIECiJIIì R TVCtIjTT CN

For a coii:plete underst;rlr<ìinE cf evolution

at the molecular
leveJ' oire xould like to be aLle t-o
' knou the seijuence of nucf eotide
pai rs in the DNA of the organisin.
This, Ì oi{e ìrerr is a verr arduous
t-askr ds the avcraEe ccr1 of a narrral
cr:ntains between l and -l 0
rlillion nucleoticje lairs per rrucleus- Even Lacteria have a
large
nilmber of nucleotirle p airs Hhich is
cnly three crders of magnitude
ro'-er than tlie aliov€- Tc,ìay, it is
posslble to sequence cnly
relatively slral1 p.c1]riLrcl€otide*c, of the
order of hundreds, and the
isolation of irdivjrjual genes is a procedure r.rhich still
has
cons j derai:1e linitat j-on:__- f t is
possible, hc$ever, to study the
average si;rilarity Let;,:een the Nt{A of related ofganisns
b1 the
techniques kno',n as r'rià-tl{A cr DI'rA-tìNÀ
hybrirlizatio,s. By these
rreans it is possible to estin:ate
at least approximately the a

percentage of nucleotide pairs that i

are identical in different r
Iu
orgdnisms- The tecrinique can be applied
ilore easily if the
È

differences are not too sma11 anil i

is therefore limited to the I
t'
I
analysis of or'Jani*'ns that have been t

separa ied for considerabr.e I

I

time' rt might be possible in tlr€ future

I
I

to increase its resoluticn 1

down to shouing differences tetueen

related species or intraspecific
differences' These ex1'eriments ha ve shoxn unifornly
l.
that the
d,ssirnilarity between organisms at the fevel of DNA
is fairly closely
proportional to the timr: of separation
betH€en the organisos, as
estimated from geol0qical and paleontcfogical
data.
 IvoL ut ion -rr3-

Fr-irthcr ir:si,gLt has cofl: e frcm tlre analysis of proteins r+Ìiich

are direct g€oe prc<ìur:is and ttrerefcre give ciirect inforuation cn
tNA- The cn,,1 y knoun linitati crrs to this :;tateirent core f rom the
tlegereracY of the qerci-ic code {see GINETTC CCtE) and frcm the fact
that a fraction of t§A does l:ot n:ake proteins- Several prr:teins
,
tr-:day have heen puril ì erl f rcn r any d j stinct arrimal and plant specie s
ald have .ber:n sliL;c;-1,r i1 to t-lre r:;,jur.r:r-ii,,J of ttreir arincacids. lri it€n

a given protein is studier-t in different organisrs, the rule aqain

tho aa-v'*€
cLtains that the anincacid differeiìces Lct;cen/p,rotein in different
si:ecì.es is i-,roi:i)rticral to their sefaration in tiue. l{ore €xact1y,
it folloxs a simple €rlronential 1aw which can ea.i1y he derived from
the ass-ilr,.pticn tìrat the prot.ability of substitution of one aiiinoaciil
uith another is ccrìstant in time. The rate of substitution
=..n=
sufficiently regular, that some authors have suggested that the
nuinber of aminoacid <lifferences for a given protein betueen
different ^species nright constitute an evolutionary clcck useful fcr
neasuri-ng their ev<;fr:tionary separation. This procedure has,
hcuever, sev€raI linitat-ions. StuCies of a single protein rare11
give enough informaticn, especially if the analysis is carried out
betaeen closely relateit o.rganisms. ft is rerarkable, houev€r, that
in the case of cytochtome C, a protein xidely distriLuted in tbe
pì-ant and aninal kir:gdom {missir:g only in some bacteri a) , that an
almost complete reconstruction of the phylogenesis of living
orEanisms is possible sì:ich comes v€rlr close to the expectation from
paleontological and ftorphological evidence- The tree pictured in
Figure 5 has been obtained by subjecting to phylogenetic analysis
 .[v ol ution -lrll-

the distance t+:iueen orgartj-:;rlis ex!rre^ql.'ed as the riunber of an:inoacjd

dif fer(rnces betre+rn t 1,em f or r,Ìris o-r'r e protei-n. cytcchrore C.

Son,e diffjcultjes of this apirrc.;ch are Cue to tlre fact that

the rates of evolutjon coxiljuted for rlifiercnt proteins are c1e.:rly
<lifferent. It is also c1ear, as alreiidy rr,ent-i-oned that sore
amincacids (probably, tlrose riost intin.:te1y related 1o the node cf
action of the protcin) do not cir.ìrìge ,luring :he cour:ìe of e voLuticn.
"!ìor,e proteins, such as iristoncs, uLich enter in the chroliro-soite
structure, and inportant hormores such as insulin, are extrenrel]
stable during evolution. Cytochroilre changes at a rate 1or*er than
iieiioglobirs, and the §;ost varj.rble nolecules found so far are
fil.rinopeptides, shr;rt i:oiypcptides'ririch are cut off the irclecule
of fibrirrogen at the Liare of coaqulation- The origin of tbese
differences ijrÉjciseLy krrovn, but it :ì€eiils reasoJìab1e to
is nct
assuile that the rrìore es:,ierit-ia1 a protein is to an organism, tbe more
it r+i11 ì:e subjected to st,abil.izing s€lection- From the av€raEe rate
of substitution ccn,{.uted on half ,:r dozen proteins, one ar.i:tcacirl
takes ahout 1bi11icn !rra.rs to l;e sutstituted i:y anottrer- This may

see$ a very long time considering that it is {"=;+{ 113 or 114 of t he

tirre that life has had to develcp on earth, Lut for a prctein of 150

aminoacids, one expects and finds' about a dozen aninoacid

differences Letween tbe louer ald the higher primates rhich have
Leen separated 70 - B0 niì1icn years-
Sone a uthors trave suqgested that amirroac id substitutions in
proteins take place es-sentially through random genetic drift and

they are not sui:ject to natural selection- for soae arinoacid

 i:vclution -q5-

srtÌjstit-rrtion-s, it is pr.ict.i<-al1y ct:rtain tbat this is rrot true- Fcr

ctler-s, tle oi)esiicn may Le rir:b;rf-al.le and an estjmation of the

f.rac:tion i;f rtolecul.rr evolution uhich rray be due to genetic Cr-ift
ard thart due to sr:lecticn is stil1 a rlifficult probfem'

r
 E'rc1u licn

.1TIE IIICRE}SE I§ CCIP],iJ}:1TY

stuIics have ]ieiped in givirrg I'uch nìore detail

11o1c,c--rrlar into
another lrportant a:;1,ect of the sti.:dy of evolutj-cn: ttre problem cf
hov corìpiexity of aL{jrrnisrls increases. It uas alreauy klcr*n from
classical stuilj.es on cl{o;:ro-sciÌ'es of the salivary 9lands of larvae cf
lrc:;ophila 5li:ci-es, 'nl,i.,-:ir pr:t.;rit a very Cetailed anal]'Sis of tle
l:arr11 ing patterns, that soifle gcnes or solne chromosome segnentS aIe
riuplicated in the genor,e. The effects of gene duplicaticn are

clt:.rr1y rccognizabfe at the mol-ccular 1.:ve1. Several proteins hav.

Leen found in differerrt fotrrs in t-he same orgatiisrn. uhich &ust have
derived from one;rncthcr ty duplication of a iene cr a ciiromoson:e
s€{l1ent. Ttitts, to gi.vr: a fe,* exainples, hemoglobin pclypeptitle chains
exists i n at least f ive dif f eterrt f orr"s ;,' {see Ilf fiCGfCBIttS};

other proteils a1so, for star:ce.:JannablobuLins, exist in a nutrr L€r

irr

of molecular forms, i-],e origin of wbich also can be traced tack to

comnon ancestors. Iìenoglc;.;in is fcund in red ce11s and serves to
trairsport oxygen fror lungs to the tissues. the protein serYing a

sonewhat siu.ilar !uLpose of axygen storirge in ntuscle tissue

nìyoglobin, also shcrs a common origin vitb hefiìoglobin' tut has
differentiated from leno.glotin €arlier than the splitting of the
hemoglobin pclypeptide chains into the five types knoun toda1. This
shous very clearly the purpose that gel)e rluplicat.ion has served in
evol-ution, as had Leen suspected for a long time from studies at the
(
cyl-o1ogica1 Level in marilr organ.isrns. The avaj-labi1ity in an or-ganism
(

(i

\ ..,
 ÉvoIut.ir:ti 11-

of two 'geret i c i-; -ltcs r;;illirrg a 1:lo1r:i n gives the L)o'ssiti ì itY to one

of them (or the oflrcr-) to e'icfitl in diffr:lent di.r',rcticns and to\

sCfve Sol|tluh'tt ti r t fe re;rt fu rtcLicirs. TLu-s, incrÉtase in corr PlexitY is

n arle pos.'.i-h 1e. ìlew tt ,:c1:'1 Irisltr s c;rn evo1.ve, Ir€w futlcticns can Le

fu,lIi11ed.
&notlier Iiechattjsn h7 uhich irr:r€a:;ed co;rplerity h"S prohably
tr..(:n achir:ved at 1i:ri:;t- in the carly :-.t-a.Jt:s of e-voluticn is the
iìCliì]j*.it-ion cf u l."Iil5t,{rnt, l;1rl'Lio:;i:: i,ci'ueen different (JI9{ìttisrs. ìio
cr-np1e te proof is yct .rvailable of this phenomenon, Lut it is
very

1ike1y that cytcpf rr= ìic cfgdnelfes such as nitcchcndria,

ch,loroplasts, ancl ct,hi:rs rìray have origi-na11y Leen irdependent
*icroorga;tisrs which cstahlished a l.erriìnent slnLiosis uith a larg€r
ce11. Their ori.; j na1 inrìepeiirlence is irlilicated by the f act that they
ha;e tliA of tliej-r ùyn, tIat tIey have a protein synthesizing
ner;hanism of the ir (J'*,Er a nd the con:p,-'si ti r:n of tÌ:eir DNA is

co:npletely differcrrt the orlJiìnlsm in xhose cytoplasm

fr:c;n tirat of
they riilell- Às far d:i'r,;e can te11, ciiloroplasts and nitcchcndria
have lost a numl:e:: of essent-ia1 functions so that they c?n ltc longer
live indepe:rdently, l-".1 -tL.ycan iaultiply to some extent i-ndependently
ìns)d< i.t. /
of the h<;st cel7f. 'IÌr€:r€ dfe iIìanI hin i s that the syilbiosis is very
anr;ient, consi-tlerittg tLat mitc'chonrlria are present in Cells cf
practically all higber otganisns and chlorcpla sts j-n all hì'qbe r
p1;rnts antl in a1gae. Sone other €x;lrpl-es of sy:rb|osis of this kittd

uhich ar€ less ancient Lut stil1 nct recent are founcl in softe

farrili-es of insects-,lor instance, in t-erilites and in cock-roaches

bacteria uhich 1i-ve intt1r1ce11uìar1y in the adipose tissue have been

(.i
 Iv ol ut iorr -trB-

fourrd. 'fh(ìSl€ ì;ac.t.eri.r do rrot :i(:en calr.il-1e of independent life

out-si.de tÌ,e ce11s, lut t-h.:Y can be el:;rjlated Ly the adrin:'st::at-i-cn
of ant j-1-iot-ics to tl,cir losts- 'l i,e furctic NC f tbese sy:rbictic
l:acteria is trot 6: f tl;tr, and tirey ar€ rict as n e C€5 S.àry to the life cf
tlie hos:t as Iiit,ocl;crr: ilri-a cr to a les:'-er exterl t ch lcropla,sts. Crre can
also tìestrolr at f ra:;t t eil'f orartl'1 , s cne t i mes p€rIranen t1Y,

chl.oroplasts by an'L-iliot,ics such as ^streptcny cin, ard the plants cr

aJ-t; ar: thus trcatcd ,lre :;ti11 c,:p,:L1e o f 1 ife i n suitab 1e
en',.,iroÌlnents, ds ttre y h.rve lost photosynthet-i c at ilities.
It nay be r+critr adrling a feu ucrd 5C n the prchl eu of
ccrrplcxity of pI e:i{rntly }iving or2anisns. 1 hrr.e is a sutstantial
hit:ra;chy of comple>:it-y arong cL!;ìtti::til s livitl g tc,day. rticroorganisms
which are unicelluler 4rs sitiitrler tlan trigher OI ,qanisiris, uhich are
rì a(1e of ;rlnI ce-l. ls. tIulticellrrlar or3;niz atio n rcquires higher
ainounts of genet-ic irrf of Ixaticn' and t-h€ ref o re of tNÀ- Eut

nicroorgani:,;ns ilct he considered as "sinpl

carl ert- Those living tcdaY

provide no i nf or:raticn on xhat truly prirliti ve organisrs Eay tove

been. Àmong the sir:1:1<:st organisms capable of au t onorous life tcdaY
^^
rr)
are sorie bacteria and .-i1qae, which can live us 1nU/nutrients very

siurple cc*pountls.'Ihey have a very conplica ted neta bo lism , as is

nade necessary by their capacity to rep rod u ce their ccm plex
st::ucture startinq from simple sutstalìces- They therefore shox a

fairly complex orgdnization and have relati vely large amounts of

( genetic inforination to reproduce it, even thou gh they have less
genetic inforinaticn tlran higher organisms- Th e on 1y organisms u hich
{.
have verl sma11 anounts of DNA are sorùe virus .oq that can reproduce
(

(
 i-u ol" ution -tr9-

erc-l rr-.-:ive1y .tt ttre Érìpq;;1ss cf n jr:rc.ir!;rnisms or. higlrer crganisins.

Tti r:y alc) plr:r ]:t-'rc'lusrì tlrr-y Jrdvc lrrl-t ftilrct-ions' e-g' 1ut €nergy
si;rr
proC,vLil 6t4
g! i-:-:.=.r:;c,{r for ^-hich thr:y r-;t jlize t}re c;rl,acities of the hcst-
Thus, viru:;os f oulld toCay hdve 1,rr:L.-l1-ly orig j,nutt.d f r out a r€gressive
ol
evolution of parLs f ;t'r>te co::, plcx ci)ìni-sn: s dnd cirlrnot le cclil'-ared
uith the eitrlier orgclri:;ns t-hat. iiust irave livetl on earth- Th€se a'ust
have Leen, ilt evi't-;lhly, tÌ,,-;ch si;i:1cr, Lut v€ry 1,roÌ-'rL1y t.,ouLd nct
sur.vive today witli [.L(]:.ir.riit ci-ir;:ictiLion t.etueen 1ivin9 argalr-isLis cf
great variety and }igh ariartation, and '*ith practically every

envirorrrìtnta1 rriche occupied by higirll organized and hi'ih1y fit

of rJanisnS, wì ,:tireI tr,rnl: or rulti-ce11u1ar- i'le have seen at the

bi:ginning cf t; is article Ìro* polynucleotides a nd polytj€ptides ilraI

hd'/e aris{ln i n tire e.rr1y envircrìx, €nt of ihe e.rrth. Hou the y cculcl
hal'e fcrred a first 1;ritri itive olg,.rnism is sti11 a n' atter of
speCulation. Such sli<:crtl;:.t-ions Ìiave been <;ffered and they usually
lead to the i,lea tbat the f ornation of a f j-rst orEa nism is a f airly
ipprobable event. T!e fact that all aminoacids produced ty ;igher
ol:ganisn;s aIe of the n1+ìvorr forU has been taken aS evidetCe that
life arose on this planet only cnce- àn 'tartificial generr has teen

produceil. todayr copJirg the seqil€nce cf nucleotides in a knc'dn short

(
gelre of natural ori'qin- It Iet l:een proved to *ork as a
has not
r,lould not te
(
'tgenet, in laLoratory exl,eri:rents, but in any case it
capable of autonomoìts reproduction except j"n a tri-gh11 artifici-al
( enyirolment and is tot capable of prcrlucing a coilplete organism- It
is not tco difficult to believe, hoHCver, that future research ui11
(
prove or at least inprove consirierably on present guesses as to hor
(

(
 i.v ol ut ion - 5C-

the fir.st living orj<rr:i:;i''s on €iir{-h }'i-rr€ forirred'

 Evolution -51-

FiCL{jeICrlL AND Clll'iljilÀL 11'r'tlI-UlICN

lverl-thing is subji, t to evol.ution, ilrcl lding tire ators cf

chemlstry ;rnd sul:at-cr:i.c Ijar.t-ic1es, Lr-tt we h.rve only Lr:en ccrlcerrred
hei-e eith Ìtiological {.s*Lr:,,-'lirres also ca11ed r,rrganic) evolution.
living orgailisms, Ì:C*{:':'{:f, arltl :!cr€ espeCial}y Vertetrat-es have
,lev,:lcped another iirod€ t;f r:vrllrrl-ii;n ;i,ich is para11e1 Lut i-nteracts
l,eavily uith biological evcluti-cn. this might be ca11ed I'cultutalrl
e vol uticn.It- .seers tiiat this is rnostly developed in Ian and sofle
peol> 1e p refe r to co rlsj-r-iq r it a uni,gue feature of ran. Becent
cL:;ervations of ethcloSisls J;av€ shcun that rany other anin'a1s are
ca1.al-. 1-e of r:r:1trrra1 erciitt,icn. ltrtts, birds have learned hor to open

rr,ilk bottles and this ri.i{ feature iras s[-r€r]d. wiilely by cultural
diffusion t-o a -JLeilt rrr-::rher of Lirils. It has been shoun toth in the
laloratory and in nature that rcdents are caFable of learning ty
oLservat-ion and imitation- Cultural evclution is thus not unique to
;ran, though sore sci::ntist-s prefer to reserve this tern fcr ilan

alcne- Apart from this purely senantic difficultl, cultural

evolution has certainlY p1a1'ed a aiajor role in man -- ror€ than in
any otler organisns-
There are soae siililarities and dissinilarities tetxeen
biological a nd cul-Lural evolution --h ich it is important to keep in
rirrd. The su bstrate of i;iological evol-utir:n is a :rucleic acid; its
changes are rurttations. Tliese changes are spread to ctber nucleic
acids only by the pro{-4ss of copying and transnrission of t}e copY to
 Evoluticn - 52-

otirer irr dividr;;r1sr;tr:d in hìgher itllii:a1s, tt,aii:;n:ission takes p-,ice

c;1.y Ly:,;rtxrral r.r[]rrtr-Jrict-j-cn. The :r'rt{,;.ie11 ar(j,ltiisms are subject to
the ef fects r.;f natr:ra1 selectir:n Ly 1;i*:firret l j-a1 survival and/or
reprofluction of fitter ildivjduals. 'Ilrey ai.€ also suÌ iect to the
ef{ect of chelce as de liir';,: s€fen.'1 he paralltrI of ':j.r)es in evcluticn
are irleas, and th;rt, of nutation, j;;iicv.1tion. ihe uccharlism of
spl .arlinrs af :ìc!.l jCeas is elt-i.rr:1y ,i,iifcLr:nt frcm t}r at cf 9€nes. 1t
is ir()re siiril.rr- to nr) r.-i;,iiienic tiran to tÌ:e iir,irrit-liu.n ilrl,r:ritance cf
higlrer or,..;anisms. fn Liological inh+:ritairce, g€n€s are paqsed frcm
pai'ents to ctf sp'r ir,g, fo-l"lo'", ing v€t-y strict rules- In cultural
iir ].eritaIice, i',1 eas {:,ln i:,e sirL'ead Irofe rapid}I, t-he faster the il€aI]S

cf 1tnir:ation, pcrsuasion.ìnd lc,arning. tst.tt also here, prccess€s

coili irì

r.rhich ale at 1.:-ast suielf i-cia11y sini-1ar to tiatural selecticn ar:d

dri-ft could te descriLcd. The nain Cifferelice huuever is that in'

cultural evoLution spreail and clange rates can be irr.:ch faster than

in biologica 1 evolr:tion.
It is also clear that j-n tle history of mar), technclogical
inrrovations }ave had a vdjry deep ilrfluence. The donestication of
plants and ani-maLs }as permitteil the irrcrease in the carrling
ca. acity of tire land and thcrcfcre t-he nrultiplication of the numters
of man by a factor cf ùrie thcu''ant1 , and perhaps more-
It is clearly reco.Jnized to<1a1 that all tìucan papulations
belong to one species. {See Euman Faces.) The racial differentiation
that He ol:serve todal ìn.ìy have ìrat1 a relatively recent criqin. The

process of hoir:inizat ion hi.rs, houever , a long one

-
and it is largely a

matter of definition to decide.-hen a primaLe evolving into Eomo car

 I,;olution tl

Lc cor) sitle;:ed as Ì-elol:r1 irr.q t o tlre gcli tls, t:d7or to the species uhich
!,r {l have ,lefj-ned fcr oilr::;c)i't:s, as t1911-o sgliens' the uost

chsi,actr:::istjc featur{ls of ìrdn y '.c;o1-naking and the

rr.I-€ rtitLlcubi-r:d-1

devr:l.c!r; cItt, cf languò')e, ;t11]1 6,r:9h rr e:ither is :;lricLly unique to IIan.

Tt is no!' t.ncr:n tliat irri::i ,11:,es ctì;er tl:an i'.rn -'-'uch ds cliirFanz€es use
very primit.ive tcoll;.fcr spccial Lìu]:tr ()se s. Cotiì iìi !-!tlication by sound is
i;irlespread ar,ong ar: il:,;1 1s, Lut i,o cll,er anitrl a1 has de veloped aS

art. iculate a lanEua.jc f or {ìofi !ri;rric;t ti<-ln as He have. Frirates i[i ay

<ie1,+3nflFOre on siEn than on sound language, although they also

citti airly u:ìe -sounds- Bec.-iuse of liuitations due to t-he structure of
tl,eir phonatioD Cìgarr s, {j}: i.i€riu'entS 'cere carried cut I€Cently in
..rlr ich i1 l,ericrìn sign lan,ji,l .rge.rnri other ty1:eS ,sf 1;:nguages !I€fe
iatrlht 1,,.; chi;,i!)iìiiz{:i}S, uith vcly r{.ru;llr.ìi-ng ri:sultS. TheSe

€xirerj-netits L,iv€ sholrr tlt.rt ciiiltp.ìnze €s ciin fcrn r€H. sentences ln

t1r: I angua.Jes they xere t.ìugirtl r.lccnbiriing the syntols ilhich they
hao learned-
Tle evoluticn of ,lan seers to have been largely dependent cn
the Ceveloprrent of tire:;e tuo fttlrctiotts: tcol-rnaking, which has
probably favcre,l erect 1:osture so !ìs to free hands for making too1s,
;:nd 1anElàge,,-rhich F+irlr,ìirs ccCìlried Later antj proLabl} determined
f urther developnent of the L;-a in ard organs of phonatj-on to make

ari:iculatelanguage lossib1e. 'Ilese tro f u ndaiuental f eatur€s IIUST

have given a strang selective advartage to man and urade further
relatively f ast evolrrtion po-qsib1e. At the moment the earliest date
for horninitìs presuned to be capatle of tool-making is about tro
nillicn ye,rrs- Ihese homiaids ha11, houever, much smaller brains than
 .. lt
Evolution - JA -

!-e h,Ì,Je todal an<1 ttr e ei,olutlon of l: rairr size and conPJ,exitY in ran

lra:; br.-en a later an,l rclatively f,ìst is Possible' though,

cI)c. ft
that r-e'rnCerthals (1:rob-rblY a sut-.=i ccj.es of uan who is exti-nct, on '

p,rt, tial1y rcai:sorbetl throuJh hyi.ririi zatj<;rr into lg-ry-g sap-ie ns) had a

har,ger brairr -size t-Ìr an kc Ìra-ve tcriay

Thrls, Ian is ttiriquc only in t]' € scn-se that it conbines several
,: l;j 1 i t it::: th ich are irrtch irore c ve 1c I:,:d in our s;ecies
r-l than in the
i1 1ivir,-J e vclutiolìaL y l:lli!1 hbcr s. i:ut l-irei€ is ilo furl''jaiil et;ta1
C.rj-{,r.5t-

biological difference br:t',;e€rn mitn arl d other aninals.

 I-i L,i i'iE ilAirTlr'ìiS

I
Stati sti c:ri i1r- cl ::,::.iic:rs of 3,.,te f i'ci-rr;.,llci es obse.l.vec1 in

s{ìlile s-.1-;;.u];i r'd 1.,-.1;:.i1at 1{,irs rj jlrlr:t ;,cir:ig , ;.l,,dcm genetic dr j f t.

'lttLs ,': g;.'rte f : (riir.-1ciìc)' of 5AZ-
llitja11-;' i..t(-ì.h ;(rìrìr,rr,ijr'il
N is ti,e n.:::t, ,:r of i-ndirri clual s f ,-,r-lri-r,g rl;rch pc|i;l r,ti on.

Fi gur:e* 2 E:r:rr;rrrl.es of selection cr.trt,es r^ri 1,1-r rlif ierent rates of selec-

t j on. b1e genoti/iles are

:
Fifness val ries of tlie three poss.

gi...,..n far e.::ch cu:-ve (fi-i:m L. Crl'a1li*Sj'orza ailtl E,;'.i:r,er,

lfrL).
Figi:re 3. Str-;:,iy sLat,e ii si,::i l,-rit:'-ons of gai-re f ri:,-'.ii,:lc i s ' l

b::sjs of tlrr:;::oilels for:aed by S. ir'rright,.:.i-rl" r'r: i-ì'e

j oi nt ef f ect of drif t and evolutionary f ,:,ic l.ors r-tiich as

lrul..ation, nli.gration, siabj.lizjng seler:tion. il-r aJ I cases,
rut: l ior-i ralr.ì-s f rcn A to a (u) :ind a to A (") :ìre- ssutl,ed

to 1re equal, dei.r-'r-::ining an avPLi-ìge geire frr,'lrreilcy of 5OZ.

lligration is also assumed to take place from an extelnal

Lropulat jon *hich also has a gene f re-t1uenc1" of 507. Siabi-lrzing

selection is as-"uned io give equal dlsadvalrtage to the twc

hc:,-roz,vgot.es. Drvj ai j on from the above hypotheses will inake

the expectr:d ziverage cli{ferent from 502. The spre'ad of

gene frequencjes in inr-l jvi'lua1 popularions given by the above

djstributions dep,-:Dds on the values Nu and Nv r '.:liere p and v

al:e the f reqr:enci es of ,'rutat j on (or of migrati on, and/or

functi-ons of selection rates) and N is the popularion size
( ri.d ì ,-: e':i f i-i.,r-r S. Iirighc, 195f ) .
 Figure 1

)
t rO
) r)
\
\C) l
N
lr

I
,
I
i(l(ft
!. NC
I
o
+-
\ a o
t.
I
è)
't 9c
L\J
I §
I (»
,
I
I
t.

-t.
,

iN
lfl-. .T
-l
til
l'
yZ- t
.\ \ì
'l ,
a
, a
't I
I )
I
\
1.
t
,
t (
\
I

O COOO O
? O.O\tN
V "uob jo hcuonbatT
 Tigure 2

- tl-,l .,Iool t -',", t

-T
_
-L
"/'+ I s-oos;"
,:'or,!^.4/
' I -: ',/'-l --
=
o
o
c

i-l-,i

0.00001
i-riiiliii
f iiii
80 100 120 140 160 200 120
Number ol generations
 l-.gure 4

EJ
o L
E
o
o
l-
'-
6f C
E l .q o
o
f C o -c. - E
C
-Y P ,-' '( -C
6) c
(r
c) O/ o o- f
E
o/ () o
L o È
CI o -co
--.9 §
--.- 3 _o
L,or- c)
.)

Figure 5 is missing. It will be sent later.

r t1
I :.,,i
i'.,-
I
ja
 Figure 3

I
!
q
m]*,,,
q
i

I
q
q I
U=V:20 I

U:V: I U:V=10
I

very small I
\ L]:V:I I
I
 \+'
Fi.gure 4. An example of application of phylogenetic analysis to some

hu:aan ethnic Sroups. Sin:eku are frcm Bougainville and

repre-sent a ìlelanesian population; Malag are Australian
aboriglnes froiu Northern Austr:a1ia; Yanomama and Makiritare

ard South Arner|can Jndian populations; Cakc.hiquel are Tndians

of Central Àmerica; Koya Dora and Konda RedOi ,ìIe llìdian
tribals from Southern India; the Towara and Jebeliya are
Beduins from the sinai; the Bushman and Pygmy are popula-

tions from dentral Africa- (from K. Kidd, Genetic Approaches

to Human Evolution, 1972).
Figure 5. Tree obtained .by subjecting -uo phylogenetic ana.lysis the
distance between organisms expressed as tile number of
amlnoacid di-fererices in cytochr:orne C (redrar"m fron
Margoliash-, 1971)