Genetic Analysis: The Molecular Basis of Heredity, Variation, and Evolution

GENETIC
AN I NTE G RATE D APPR OAC H
A N A LY S I S
Chapter 1
The Molecular Basis of
Heredity, Variation, and
Evolution
Lectures by Kathleen Fitzpatrick

Simon Fraser University
Mark F. Sanders
John L. Bowman
Copyright 2012 Pearson Education Inc.
The science of genetics

Genetics is the study of inherited variation, its origin,
and transmission
2
Genetics Analysis: An Integrated Approach
1.1 Modern Genetics Has Entered Its Second

Century
Man has long puzzled over the causes of familial tendencies
in people and domesticates
It is only in the last 150 years or so, with the advent and
application of the scientific method, that significant progress
has been made towards solving these mysteries.
3
The First Century of Modern Genetics

Through a series of careful breeding experiments on garden
peas in the 1860s, Gregor Mendel showed that:
hereditary variation is caused by alternative versions of

discrete particles or factors (a.k.a. genes),
each individual possessed two factors for each trait,
each offspring received one factor for each trait at random

from each parent, and
factors were transmitted down generations without being
modified by their passage through ancestors
Mendels findings went unnoticed for decades, but were
independently rediscovered in 1900.
4
Genes two separate concepts

There are two distinct concepts of genes:
Classical concept: A gene is a fundamental unit of heredity,
i.e. Mendels factors
Modern molecular concept: A gene is a segment of DNA

that specifies the amino acid sequence of a polypeptide, and
the rate, time, and place of its production
Although narrow to the point of frequently being inaccurate, the modern
concept is useful for instructional purposes, and will be used heavily.
However, it is important to bear in mind that many important genes do not
conform to this narrow definition.
Geneticists prefer locus (pl. loci) over gene for the classical concept.
5
Basic Genetic Concepts

Alleles: alternative (variant) forms of a gene
Phenotype: the appearance or characteristics of an
individual
Genotype: the genetic constitution of an individual
Chromosomes: long molecules of double-stranded

DNA and protein that contain genes
Genome: the complete set of genes of an individual
Gametes: specialized reproductive cells that convey

genetic information from parent to offspring
6
Modern Genetics Has Three Major Branches

Transmission genetics (Mendelian genetics) is
the study of the transmission of traits in successive
generations
Evolutionary genetics studies the origins of and
genetic relationships between organisms, and
evolution of genes and genomes
Molecular genetics studies inheritance and
variation at a molecular level
7
DNA Is the [Primary] Hereditary Material

In 1944, Avery, MacLeod, and McCarty identified
deoxyribonucleic acid (DNA) as the hereditary
material
This inaugurated the molecular era of the field of
genetics, which progressed rapidly throughout the
second half of the 20th century, and continues today
8
Progress in Understanding DNA Function

During the 1950s the structure and replication of
DNA were elucidated
In the 1960s, the genetic code and mechanisms of
transcription and translation were deciphered
By the 1970s, cloning and the development of
recombinant DNA technology had begun
In the 1980s, scientists began to study and compare
entire genomes of microbes
In 2001, a consortium of scientific groups published
a first draft of the human genome
9
The Three Domains of Life
10
DNA Is the Hereditary Material

Deoxyribonucleic acid (DNA) is the primary
hereditary material for most organisms
Ribonucleic acid (RNA) is used by some viruses
DNA has a double-stranded structure, a DNA
double helix, or DNA duplex
11
Plastids: Mitochondria and Chloroplasts

Plant and animal cells contain mitochondria
Plant cells contain chloroplasts
These organelles contain their own DNA on single

circular chromosomes
12
The Central Dogma - Mechanisms Shared by

All Three Domains
DNA replication precisely duplicates the DNA
duplex prior to cell division
In transcription, one DNA strand is used to direct
RNA synthesis
In translation, messenger RNA (mRNA) is
decoded to direct protein synthesis
13
1.2 The Structure of DNA Suggests a Mechanism

for Replication
Identification of DNA as the hereditary material was
the foundation of new molecular-focused
approaches in biological research
The molecular structure of DNA was key to

understanding:
How DNA could carry genetic information
How the molecule replicated
14
The DNA Double Helix

Combining data from multiple sources, including
Rosalind Franklins X-ray diffraction data & Erwin
Chargaffs rules of nucleotide abundance, Watson
and Crick deduced the structure of DNA in 1953
The structure was described as a double helix with
sugar phosphate backbones on the outsides and
nucleotide bases arrayed in complementary pairs
toward the center
15
16
Chargaffs Rule - %A = %T & %C = %G

Watson and Crick used Chargaffs rule to deduce that nucleotides
are arranged in complementary pairs
17
The DNA Double Helix

Determining the structure of a biological macromolecule rarely constitutes
a major scientific breakthrough. The discovery of the structure of DNA
was a rare exception, because it provided immediate insights into major
biological questions, including:
1.) how complex information is encoded by
a chemically simple substance
2.) how information is copied and
transmitted
The paper is also celebrated as a superb
example of (now-extinct) clear, concise, and
broadly accessible scientific writing.
It has not escaped our notice that the specific pairing we have postulated
immediately suggests a possible copying mechanism for the genetic material.
Watson & Crick. 1953 Nature 171:737-738
see also Cricks letter to his 12-year-old son: www.thehistoryblog.com/archives/25193
18
DNA Nucleotides
DNA nucleotides are composed of a deoxyribose
(5-carbon) sugar, a phosphate group, and one of
four nitrogenous bases designated:
Adenine (A)
Guanine (G)
Thymine (T)
Cytosine (C)
Nucleotides are linked together by a

phosphodiester bond between the 5 phosphate
group of one nucleotide and the 3 hydroxyl of
another
19
Complementary Base Pairing

Complementary base pairing occurs between an A
on one strand and a T on the other, or a G on one
strand and a C on the other
Hydrogen bonds form between the complementary
base pairs
The 5 and 3 designations of the phosphate and
hydroxyl at the ends of the DNA strands establish
polarity; the two strands are antiparallel
20
21
DNA Replication
Each single strand of DNA contains the information
needed to generate its complementary strand
Meselson and Stahl demonstrated that DNA
replication was semiconservative about 5 years
after DNA structure was elucidated
Semiconservative replication creates two new
duplexes, each composed of one parental
(original) strand and one newly made daughter
strand
22
23
1.3 Transcription and Translation Express Genes

The central dogma of biology describes the flow of
hereditary information; the original was proposed by
Francis Crick
24
1.3 Transcription and Translation Express Genes

The central dogma of biology describes the flow of
hereditary information; the original was proposed by
Francis Crick
25
Transcription
RNA Polymerase uses one strand of DNA to direct
synthesis of a single-stranded RNA transcript
26
Regulation of Transcription
27
Translation
Translation converts the genetic message
carried by mRNA into a sequence of amino acids
joined together by covalent peptide bonds at
the ribosome
The resulting polypeptide, upon folding, makes

up all or part of a protein
Each amino acid is specified by a codon, three
consecutive nucleotides on the mRNA
28
Translation
Translation begins when mRNA attaches to the
ribosome in a manner that places the start codon
(AUG) in the correct position, and moves 5 to 3 until
a stop codon is reached.
29
Translation
30
The Genetic Code

mRNA encodes an amino acid sequence via the
genetic code
There are 64 possible triplet codons, read in the

5 to 3 direction; each specifies one amino acid
There are 20 common amino acids; some amino
acids are specified by one codon and others by
up to six different codons
31
32
33
1.4 Evolution Has a Molecular Basis

Life is not static or uniform; it evolves as DNA
acquires mutational changes
The biochemical processes that replicate DNA and
express genetic information are universal
34
Darwins Theory of Evolution

Evolution: the process by which populations change
over time by the accumulation of inherited variants
associated with increased survival or reproduction
The theory was independently proposed in the late

1850s by Charles Darwin and Alfred Wallace
35
Darwins Principles of Populations

Populations tend to expand beyond the limits their
environments can sustain
Variation exists among members of populations in
the ability to survive and reproduce
Some of this variation has a genetic basis
Inherited variants that confer advantages in survival
and reproduction will tend to be passed to the next
generation with higher frequency
36
Natural Selection
Natural selection operates on phenotypic variation,
which is influenced by underlying genetic variation
As one phenotype is favored over another, the
frequencies of associated alleles are altered
37
Four Processes That Lead to Changes in

Allele Frequencies in a Population Over Time
Mutation: the addition of allelic variants that serve as
raw material of evolutionary change
Selection: differential survival and/or reproductive
success of members of a population due to
phenotypic variation
Migration: the movement of individuals from one
population to another
Drift: the random change of allele frequencies due to
chance
38
Modern Synthesis of Evolution

The modern synthesis of evolution merges
evolutionary theory with population genetics and
transmission genetics
It provides a unifying view of the genetic processes
and mechanisms that produce evolutionary change
39

Genetic Analysis: The Molecular Basis of Heredity, Variation, and Evolution

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GENETIC

AN I NTE G RATE D APPR OAC H

Lectures by Kathleen Fitzpatrick

Copyright 2012 Pearson Education Inc.

The science of genetics

Copyright 2012 Pearson Education Inc.

1.1 Modern Genetics Has Entered Its Second

Copyright 2012 Pearson Education Inc.

The First Century of Modern Genetics

hereditary variation is caused by alternative versions of

each offspring received one factor for each trait at random

Copyright 2012 Pearson Education Inc.

Genes two separate concepts

Modern molecular concept: A gene is a segment of DNA

Copyright 2012 Pearson Education Inc.

Basic Genetic Concepts

Chromosomes: long molecules of double-stranded

Gametes: specialized reproductive cells that convey

Copyright 2012 Pearson Education Inc.

Modern Genetics Has Three Major Branches

Copyright 2012 Pearson Education Inc.

DNA Is the [Primary] Hereditary Material

Copyright 2012 Pearson Education Inc.

Progress in Understanding DNA Function

Copyright 2012 Pearson Education Inc.

The Three Domains of Life

Copyright 2012 Pearson Education Inc.

DNA Is the Hereditary Material

Copyright 2012 Pearson Education Inc.

Plastids: Mitochondria and Chloroplasts

These organelles contain their own DNA on single

Copyright 2012 Pearson Education Inc.

The Central Dogma - Mechanisms Shared by

Copyright 2012 Pearson Education Inc.

1.2 The Structure of DNA Suggests a Mechanism

The molecular structure of DNA was key to

How the molecule replicated

Copyright 2012 Pearson Education Inc.

The DNA Double Helix

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

Chargaffs Rule - %A = %T & %C = %G

Copyright 2012 Pearson Education Inc.

The DNA Double Helix

Copyright 2012 Pearson Education Inc.

Nucleotides are linked together by a

Copyright 2012 Pearson Education Inc.

Complementary Base Pairing

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

1.3 Transcription and Translation Express Genes

Copyright 2012 Pearson Education Inc.

1.3 Transcription and Translation Express Genes

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

The resulting polypeptide, upon folding, makes

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

Copyright 2012 Pearson Education Inc.

The Genetic Code