LECTURE 3

CHROMOSOMAL BASIS
OF
INHERITANCE
Transmission of genes and chromosomes
 Key Questions
• How do we know that genes are
parts of chromosomes?
• How is chromosome number
maintained through
generations?
• What is the chromosomal basis
for Mendel’s law of equal
segregation and independent
assortment?
Rediscovery of Mendel’s work

1900
• Hugo De Vries (Holland)
• Carl Correns (Germany)
• Erick von Tschermak (Austria)
Where are the hereditary
determinants (genes) located in
a cell?

What is the precise way in

which segregation and
independent assortment are
achieved at the cellular level?
Genetics
• took a major step forward
with the notion that
genes are parts of
chromosomes-
Chromosome Theory of
Heredity
The nature of chromosomes

• Each chromosome
contains a single, long,
folded DNA molecule
 How did the
Chromosome
Theory of Heredity
develop?
Constancy of the numbers of chromosomes

- cell to cell within an organism

- organism to organism within
any species
- generation to generation within
species.
 How was
chromosome
number
maintained?
Mitosis
Nuclear division associated
with the division of somatic
cells (cells of the eukaryotic
body that are not destined to
become sex cells).
Interphase= (G1, S, G2)
Stages of mitosis

• Prophase
• Metaphse
• Anaphase
• Telophase
Mitosis

• produces two genetically

identical cells from a single
progenitor cell.

• The two fundamental processes

of mitosis are replication
followed by segregation.
 Meiosis
• Two successive nuclear divisions (Meiosis
I & II) – four cells called the products of
meiosis (haploid gametes); spermatozoa
and ova in humans; meiospores (gametes)
in plants
• S phase before meiosis
• Meiosis I & II divided into prophase,
metaphase, anaphase and telophase
• Prophase I is complex with sub-divisions
(Thin thread) (paired)

(thick) (double)

(moving apart)
 Message
• In mitosis, each chromosome
replicates to form sister chromatids,
which segregate into the daughter
cells.

• In meiosis each chromosome

replicates to sister chromatids.
Homologous chromosomes
physically pair and segregate at the
first division. Sister chromatids
segregate at the second division
What are the main
differences between
mitosis and meiosis?
 The Chromosome Theory
of Heredity
1902 - Walter Sutton (American grad student)
Theodor Boveri (German Biologist)

 genes are in pairs (so are chromosomes)

 the alleles of a gene segregate equally into
gametes (so do members of a pair of
homologous chromosomes)
 different genes act independently (so do
different chromosome pairs)
The parallel behaviour of
genes and chromosomes

Genes are parts

of chromosomes
Break - 5 minutes
The Discovery
of Sex Linkage
1906 - L. Doncaster and G.H. Rayor, Magpie moth (Abraxas)
William Bateson - Inheritance of feather pattern in chickens
The common fruitfly (Drosophila melanogaster)

Thomas Hunt Morgan (Columbia University, USA)

Life cycle of Drosophila melanogaster
Comparison of results

In moths and chickens, the

progeny are like the parent of
the opposite sex when the
parental males carry the
recessive allele
In Drosophila, the outcome is
seen when the female parents
carry the recessive alleles
Morgan’s explanation
 X and Y chromosomes determine sex of
the fly
 Meiosis in the female produces eggs that
bear one X chromosome
 Meiosis in the male produces two types of
sperm, one type bearing an X chromosome
and another type bearing a Y chromosome
 Approximately equal numbers of male and
females are expected owing to equal
segregation of X and Y
The eye colour problem
 Alleles for red and white located on
the X chromosome; no counterpart
on the Y chromosome

 Females, two alleles; males, one

The experiment strongly
supports the notion that
genes are located on
chromosomes but does not
provide a definite proof of
the Sutton-Boveri theory
Moths and chickens
 Males are homogametic (ZZ)
 Females are heterogametic (ZW)

In summary, the inheritance

pattern of some genes indicate
that they are borne on the sex
chromosomes
Genetic symbols
Drosophila - standard laboratory stock, wild
type
all other alleles, non-wild type
Symbol for a gene - first non-wild type found e.g.
white eyes in drosophila (normal eyes is red eyes,
symbol = w+). Lower case letters are used when
the wild type is dominant

Wing shape in Drosophila. Wild-type, straight and

flat wings. Non-wild allele causes the wing to be
curled (Cy = curly wing; wild type, Cy+)

Question: Which is the dominant phenotype? Note

that a gene symbol may consist of more than one
letter.
 A critical test for the chromosome theory
Calvin Bridges
Cross: White eye female x Red eye male
Progeny: red eye female and white eye males

Large scale: 1 in 2000 F1 either white eye

female or a red eye male (primary
exceptional progeny)
Cross: primary exceptional white-eyed
females x normal red-eyed male
Progeny: red-eyed females and white-eyed
males + 4% of white eyed females and
sterile red-eyed males (secondary
exceptional progeny)
Bridges’ reasoning
 Exceptional females have two X
chromosomes both from their
mothers (homozygous for w)
 Exceptional males must get their X
chromosomes from their fathers
because they carry w+
Bridges hypothesized rare mishaps
in meiosis in the female whereby,
the paired X chromosome failed to
separate in either the first or second
division (Nondisjunction)
Proposed explanation of primary exceptional progeny through
nondisjunction of the X chromosomes in the maternal parent
Summary

Bridges explained the

primary progeny by
postulating rare abnormal
meiosis that gave rise to
viable XXY females and
XO males
Test of model
1. Microscopic examination of primary
exceptional progeny (XXY, XO)
2. He predicted the possible
chromosome pairings during
meiosis in the XXY females and
form these the nature of the
secondary exceptional progeny
that arose from them. Microscopy
confirmed his predictions.
Conclusion

When Bridges used the

chromosome theory to
predict successfully the
nature of certain genetic
oddities the chromosome
location of genes was
established beyond
reasonable doubt
Assignment for the day: Visible
chromosomal landmarks
• Chromosome number
• Chromosome size
• Heterochromatin
• Centromeres
• Nucleolar organizers
• Telomeres
• Banding patterns