Chapter 1

DNA structure phosphate-sugar backbone connected by base pairs

(A-T; G-C)
DNAs function is replication and gene expression.
Replication depends on base pairing and preservation of the
sequence of bases.
mRNA: Contains all the invormation needed for the synthesis of a
polypeptide; RNA transcript eventually separates from its DNA
template and is altered by the addition, deletion, or modification of
nucleotides. The finished molecules are mRNA (important in gene
expression).
Gene expression: the process by which genes affect the phenotype
Converts sequence of nucleotides to sequence of amino acids in
a protein, via transcription and translation.
Transcription: process through which RNA is formed along a DNA
template (A pairs to T; G pairs to C)
Translation: protein (polypeptide) synthesis directed by a specific
messenger RNA; occurs on ribosomes.
At this stage, the genes mRNA acts as a template for the
synthesis of a polypeptide. Each of the genes codons,
now present in the sequence of the mRNA, specifies the
incorporation of a particular amino acid into the
polypeptide chain. (fig 1.7 Human beta globin gene
expression)
The amino acid sequence of a protein determines its
structure and function. Much of an organisms phenotype
results from protein function.
Mutation: changes in the DNA sequence of a gene change the
sequence of the encoded protein therefore, mutations can alter
protein structure and function (Hemoglobin sickle-cell mutation).
A change in one of the base pairs can cause a serious mutation
of a gene. Although it seems like a small change, the outcome
can be drastic.

Chapter 2
Each chromosome consists of one double-stranded DNA
molecules plus an assortment of proteins. Eukaryotic somatic
cells possess two copies of each chromosome (diploid) and the
gametes have only one copy of each chromosome (haploid)
Cell Cycle (in eukaryotes):
G1SG2M
In this progression, S is the period in which the
chromosomes are duplicated, an event that requires DNA
synthesis. The M phase is the time when the mother
actually divides. This occurs in two phases: Mitosis,
process that distributes the duplicated chromosomes
equally and exactly to the daughter cells and cytokinesis,
which is the process that physically separates the two
daughter cells from each other. The G1 and G2 phases are
gaps in between the S and M phases.
Mitosis (makes my toes): When mitosis begins, each chromosome
has already been duplicated. These sister chromatids are joined at the
chromosomes centromere. These chromatids are exact copies of the
original chromosome.
G1: 2n; 2c
G2: 2n, 4c
After cytokinesis: 2n, 4c (both daughter cells are diploid)
Stages of mitosis:
Interphase: centrosome duplicates; chromosomes begin to
condense and become visable
Prophase: condensing chromatids to become chromosome
held together at centromere; daugher cells begin to move
apart. The initiation of spindle formation and the
condensation of duplicated chromosomes from the diffuse
network of chromatin = prophase.
Metaphase: Attachment of spindle microtubules to the
kinetochores indicates the cell is entering metaphase. The
Chromosome are aligned at metaphase plate halfway
between the poles. Each sister chromatid is connected to
a different pole. This polar alignment is crucial for the
equal distribution of genetic material to the daughter cells.

Anaphase: The sister chromatids are separated from each

other and are pulled to opposite poles the cell they are
now referred to as chromosomes. There is an increase in
the separation of the spindle poles.
Telephase: The decondensation of chromosomes (without
kinetochore) and the restoration of the internal organelles
Meiosis: process that reduces the diploid state to haploid, that is, it
reduces the number of chorosomes in a cell by half and become
gametes.
Homologues pair of chromosomes that carry the same set of
genes
Chromosome duplicate meiotic division I meiotic division II
Stages of meiosis I:
Prophase: longer than that of mitotic prophase
Metaphase I: two copies of each replicated chromosome
pair at the metaphase plate (tetrad)UNLIKE mitosis.
Anaphase I: each chromosome moves to pole without
chromatid separation
At the end, the chromosome number has been reduced,
but each chromosome still has two chromatids.
Stages of meiosis II: The chromosomes condense and become
attached to a new spindle apparatus. They then move to positions in
the equatorial plane of the cell and their centromeres split to allow the
constituent sister chromatids to move to opposite poles (called
chromatid disjunction). During telephase II, the separated chromatids,
now called chromosomes, gather at the poles and daughter nuclei form
around them. Each daughter nucleus has a haploid set of
chromosomes.
Chromosomes are not replicated in the interphase between
metaphase I and II.
Metaphase II: Chromosomes line up on metaphase plate
Anaphase II: Sister chromatids separate and move to
opposite poles as separate chromosomes.
Telephase II: Chromosomes uncoil and nuclear envelope
forms around chromosomes.

The result is four haploid gametes, each with half the

number of chromosomes present in the diploid cells.
Tetrad when DNA has replicated and there are four strands of
DNA (replication occurs during S phase and chromatid number
goes from 2 to 4). Term used to identify the quadruple group of
chromatids that is formed by the association of duplicated
homologous chromosomes during meiosis.
Crossing over occurs during prophase I. Synapsis is the pairing
between homologues. The paired chromosomes may exchange
material. The broken pieces of chromatids are swapped between
chromatids and therefore leads to a recombination of genetic
material between the paired chromosomes.
Chiasma indicates where chromosomes have exchanged
genetic material DNA is broken and rejoined.
Oogenesis:
Chromosomes duplicate and make the primary oocyte (n). The
primary oocyte enters meiosis I and divides into the first polary
body (n) and the secondary oocyte (n). These enter meiosis II
and both divide creating two polar bodies (n) from the first polar
body and the secondary oocyte divides into a third polar body (n)
and an egg (n). Results are three polar bodies and one egg.
Spermatogenesis:
Each spermagonia duplicates its chromosomes and makes a
primary spermatocyte. This enters meiosis I and splits into two
secondary spermatocyt (half the number of chromosomes).
Enters meiosis II and creats spermatids where sperm are
connected to each other via cytoplasmic bridges until they are
mature. (see fig 2.17 for n and c)
Chapter 3
Haploid an organism or cell having only one complete set (n) of
chromosomes or one genome.
Diploid An organism or cell with two sets of chromosomes (2n) or
two genomes. Somatic tissues of higher plants and animals are
ordinarily diploid in chromosome constitution in contrast with the
haploid gametes.
Allele one of a pair, or series, of alternative forms of a gene that
occur at a given locus in a chromosome. Alleles are symbolized with
the same basic symbol (D and d).

Homozygous an individual in which the two copies of a gene are the

same allele.
Heterozygous An organism with unlike members of any give pair or
series of alleles that consequently produces unlike gametes.
Dominant a condition in which one member of an allele pair is
manifested to the exclusion of the other.
Recessive A term applied to one member of an allelic pair lacking
the ability to manifest itself when the other or dominant member is
present.
F1 the first filial generation; the first generation of descent from a
given mating.
F2 the second filial generation produced by self pollinating the F1
generation.
Independent assortment the random distribution of alleles to the
gametes that occurs when genes are located in different
chromosomes. The distribution of one pair of alleles is independent of
other genes located in nonhomologous chromosomes.
Test cross backcross to the recessive parental type, or a cross
between genetically unknown individuals with a fully recessive tester
to determine whether an individual in question is heterozygous or
homozygous for a certain allele. It is also used as a test for linkage.
Mendel:
Crossed pea plants and his initial observations were that the
dwarf traits were hidden in the F1 generation but reappeared
unchanged in the F2 generation. In the F2, tall and dwarf plants
appear in a ration of about 3 tall: 1 dwarf. This condtridited the
idea of blending inheritance.
Mendel concluded that each trait is controlled by an inherited
factor (gene) and that two copies of each gene are present in the
organism (alleles). The alleles are usually transmitted
unchanged through crosses.

Principles:
1. Principle of Dominance: In a heterozygote, one allele
may conceal another (dominant and recessive).
2. Principle of segregation: In a heterozygote, the alleles
segregate from each other during gamete formation.

Concluded that dwarf plants where lacking the Gibberellin (GA)

horomone, which stimulates growth, so there must be a mutation
in the production for the dwarf plants. Tall plants had at least one
functional copy of the enzyme.
Charles Darwin: created an idea that contradicted blending
inheritance. He created the Theory of Evolution that required theory of
inheritance that was more than just blending. He stated that
inheritance was carried by particles called gemmules (genes).
Mendel expanded on Darwins theory creating clear laws and a
particular theory (used alleles and genes). He explained how
recessive traits could remain hidden and reappear. His work was
lost after it was published and rediscovered forty years later.
Hugo de Vries, Carl Correns, and Erich Tschermak rediscovered
Mendels work in 1900. The discovery of chromosomes and their
movements provided explanation of Mendels laws. They gave Mendel
credit for the discovery even though his work had been so hidden for
so many years.
Boveri: all chromosomes needed for growth and function of organisms
Sutton: Observation of chromosomes in meiosis
Possible monohybrid crosses: AaxAa = 3:1 ratio
AAxAA, AAxAa, AAxaa, Aaxaa, AaxAa, aaxaa
Dihybrid cross result in 9:3:3:1 ratio
Each daughter cell gets ONE allele of each gene, so if there are
two genes, cell will get one allele from each gene. Ex.
GGWWxggww. Each will make one gamete (GW and gw) and
come together to make GgWw. When crossed with itself
GgWwxGgWw results in the 9:3:3:1 ratio. Possiblilities are GW,
Gw, gW, gw.
Results are explained by principle of independent assortment:
alleles of different genes assort differently of each other. We can
use the multiplication rule to determine genotypes and
phenotypes of results.
Multiplication rule for probabilities:
If two evens are totally independent of each other, then the
probability that both events occur together will be the produce of
their independent probabilities (look at each gene, then multiply

probabilities together). Use the forked line method to determine

probabilities of multiple genes.
Chi squared test: (observed-expected)2/expected
If chi squared value is less than critical value based on degrees
of freedom, hypothesis stands and you assume the numbers are
consistant with expected values.
Degrees of freedom: different phenotype possibiities 1
Chapter 4
Incomplete dominance: heterozygote has phenotype different from
either homozygote (Ww=pink)
Codominant: implies that there is an independence of allele function;
neither allele is dominant over the other (M and N antigen on blood
cells)
Multiple alleles: coat color in rabbits. The color-determining gene, c,
has four alleles, three of which are distinguished by a superscript : cc
(albino) ch (Himalayan), cch (chinchilla), c+ (wild-type)
Allelic series: c+>cch>ch>cc
Blood types:
IAIA or IAi A
IBIB or IBi B
IAIB AB
ii O
One blood type gene with three alleles. Six genotypes,
four phenotypes. IA and IB are codominant. IO or i are
recessive to A and B. O=universal donor. AB=universal
recipient.
Test for allelism:
The procedure involves crosses to combine the new recessive
mutation with recessive mutations of known genes. If the hybrid
progeny show a mutant phenotype, the then new mutation and
the tester mutation are alleles of the same gene. If the hybrid
progeny show a wild phenotype, then the new mutation and the
tester mutation are not alleles of the same gene. (applies only to
recessive mutations)

Complimentation test: c+ compliments a, b, and d (F1 are

wildtype)
C+ fails to compliment c (F1 are mutant); therefore c
and c+ are allelic.
Lethal mutations: Y1 is a dominant mutation therefore Y1Y1
homozygotes die as embryos (embryo lethal).
Incomplete penetrance: When individuals do not show a trait even
though they have the appropriate genotype.
Variable expressivity: All mutants have reduced eye development
but the phenotype is variable.
Both of these indicate that the pathway between a genotype and
its phenotype are subject to change.
Loss of function mutants: (usually recessive)
Amorph: no function of gene product
Hypomorph: reduced function of gene product
Gain of function mutants: (usually dominant)
Hypermorph: increased function of gene product
Neomorph: new function of a gene product
EX. Insects have enzymes that detoxify environmental
poisons. A new insecticide cannot be degraded because it
doesnt bind the active site of the enzyme. A mutation in
the gene encoding the enzyme allows the insecticide to
bind and be degraded.
Environmental effects on phenotype:
People with PKU (homozygotes) can live normal due to
environment (diet can change to conform to those affected with
PKU). Genotype is not the only factor affecting phenotype.
Gene interactions: (if both genes affect the same trait, segregation
of genes is the same but can get new phenotypic patterns)
Four phenotypes, all affecting the same structure or
process (ex. Rose, pea, walnut, and single combs
chickens)
Recessive allele of either of two genes causes phenotype
(9/16 A_B_, 3/16 A_bb, 3/16 aaB_, 1/16 aa bb) purple and

white flower example both C and P have to be present for

purple flowers
Biochemical basis: a linear pathway with steps that
cannot be distinguished (pathways)
Precursor A C precursor B P purple
pigment
(colorless)

(colorless)

One recessive allele masks phenotype of the other

(epistasis):
9/16 dominant phenotype A_B_
3/16 bb phenotype
4/16 aa phenotype (3/16 aaB_, 1/16 aabb)
EX. Cinnabar and eyeless example ey is epistatic to cn
no eye color if no eyes; linear pathway with distinguishable
pathways.
Recessive phenotype only if both recessive alleles are
homozygous
15/16 dominant phenotype (9/16 A_B_, 3/16 A_bb, 3/16
aaB_)
1/16 recessive phenotype (aabb)
Biolchemical basis: duplicate pathways; there is more
than one way to get to the desired phenotype.
One dominant allele masks phenotype of other (dominant
epistasis)
12/16 A_ phenotype (9/16 A_B_, 3/16 A_bb)
3/16 aaB_ phenotype
1/16 aabb phenotype
Traits that continuously vary are explained by multiple genes
and environmental factors (height and skin color)
Chapter 25

Quantitative trait: Inheritance of measurable traits (height,

weight, color intensity) that depend on the cumulative action of
many genes, each producing a small effect on the phenotype.
Chapter 5
T.H. Morgan
Started genetic studies with fruit flies (Drosophilia) and made
many discoveries, but the first was the discovery of sex-linkage.
Sex linkage of white-eyed mutant was important proof that
genes were on chromosomes.
Bridges explained these exceptions as examples of nondisjunction in
aberrant meiosis. Nondisjunction is the failure of disjunction or
separation of homologous chromosomes in mitosis or meiosis, resulting
in two many chromosomes in some daughter cells and too few in
others.
Sex-linked association or linkage of a hereditary trait with sex; the
gene is in a sex chromosome, usually the X and often used
synonymously with X-linkage.
Sex chromosome chromosomes that are connected with the
determination of sex
Differ in size and morphology
Terminal regions similar but few genes in common
Y has VERY FEW genes and X has MANY genes
X and Y pair and disjoin in meiosis as if they were homologous
chromosomes.
Autosome any chromosome that is not a sex chromosome
Heterogametic producing unlike gametes with regard to the sex
chromosomes. In humans, the XY male is heterogametic and the XX
female is homogametic
Hemizygous The condition in which only one allele of a pair is
present, as in sex linkage or as a result of deletion
XY males always show phenotype of recessive alleles of X
chromosome genes
Dosage compensation A phenomenon in which the activity of a
gene is increased or decreased according to the number of copies of
that gene in the cell.

Barr body A condensed mass of chromatin found in the nuclei of

placental mammals that contains one or more X chromosomes
Males get their X from the mother, and females get an X from each
parent. So if something is homozygous on the X chromosome, the male
has a 100% chance of recieveing that gene.
Human sex determination: SRY gene on Y chromosome endcodes for
TDF (testis determining factor)
Drosophilia sex determination X:A ratio
Because females have two copies of X and males only have one, in
order to equally distribute the need for the gene, males produce a
protein which increases the expressiveness of the gene and females
only express on of their X chromosome (random). When Sxl is off
(which is in males), the X chromosome genes are transcribed twice as
much. Females inactivate one of their Xs to be equal to the males.
Results in a calico cat (black and orange patches of fur) all
tortiseshell cats are female because its the only time they can be Oo.
Males only have one copy of gene therefore they cant possess the
calico markings.