Diversity of Life

EBIO 1010
Lecture 4
Variation and Evolution

Genetic Variation
Genotype differences
are partly responsible
for phenotypic
differences
Environmental
conditions can also
alter phenotypes

Mutation is responsible
for differences in
genotypes

Genetic Variation
Many mutations have negative effects
However, every genetic variation is a
product of mutation
All species are the product of accumulated
mutations

Mutation is the raw material of evolution

Genetic Variation
Variation can be measured in many ways:
At the level of the organism
E.g., eye color, hair color, skin color

At the protein level

E.g., most insects and plants are polymorphic at >50%
of their genes

At the DNA level

E.g., in humans 1 DNA bp out of 1000 will be different.
This means that there are about 6x106 differences
across the (diploid) genome!

Genetic Variation
Each person is born with at least 300 mutations
that differentiate them from their parents

At least one or two of these mutations is

potentially harmful, especially if they are
homozygous
Most mutations occur in neutral regions of the DNA
and have no phenotypic effect

Genes and Genomes

The genome of almost all organisms
consists of deoxyribonucleic acid (DNA)
Some viruses use ribonucleic acid (RNA)

DNA - a series of nucleotide base pairs

Base pairs - a purine and a pyrimidine

Purines - adenine (A) and guanine (G)
Pyrimidines - thymine (T) and cytosine (C)

Genes and Genomes

Genes and Genomes

DNA content varies greatly
among organisms
Humans have ~3.2 billion
base pairs (bp)
Drosophila has ~150 million
bp
Among different species of
salamander size can differ
more than a hundredfold
The genome of Amoeba
dubia is 200 times the size
of a humans

Genes and Genomes

One long DNA molecule
is coiled into a
chromosome
A gene refers to a
sequence of DNA that is
transcribed into RNA
A locus is a site on a
chromosome occupied
by a particular gene

Genes and Genomes

The genetic code is nearly universal
Transcription and translation are fairly
uniform across all organisms
Allows genetic engineering

This is because we all are descended from

a single common ancestor

Genes and Genomes

In eukaryotes most DNA has no
apparent function

Only 28% of the human genome may

be transcribed
Much of this contains introns
Less than 5% of the genome actually
encodes proteins

Mutation
Mutation - the process of
alteration of a gene or
chromosome and its product
DNA is damaged by chemical
and physical events
Results in changes in base pair
sequences
Many changes are repaired by
DNA polymerase and by proofreading enzymes

Mutation
A mutation only occurs in a single cell of a single
organism
If the mutation occurs in a germ line:
It can give rise to a single gamete with
that mutation
Or if it is a precursor to the germ line,
several gametes may carry the mutation

Initially the mutation is carried in a very small proportion

of the population
It can become fixed in the population due to natural
selection or genetic drift
Fixed - carried by nearly the entire population
Most mutations do not become fixed

Sources of Variation
Point mutations

Sequence changes arising from

recombination

Point Mutations
Mutations can have a phenotypic effect
if they occur in:
Genes that encode mRNA or tRNA
Regulatory DNA regions

Protein encoding regions

Point Mutations
Base pair substitution - maps to a single
locus (often restricted to a single base pair)
Transition - a substitution of a purine for a
purine (G A) or pyrimidine for a pyrimidine
(T C)
Transversion - a substitution of a purine for a
pyrimidine or vice versa

Point Mutations
Frameshift mutations:
Insertion - a single base pair is inserted
Deletion - a single base pair is deleted

Sequence Changes from

Recombination
Recombination - a normal process where
genes are exchanged between
chromosomes during meiosis

Sequence Changes from

Recombination
Unequal crossing over
When two chromosomes are not perfectly aligned

Results in tandem duplication on one chromosome

and deletion on the other
May range in size from a single base pair to a large
block of loci
Usually occurs in an area that already has tandem
repeats
Generates a large number of nonfunctional sequences
(typical of eukaryotes)
Increases the total length of DNA

Mutation Examples
Sickle-cell anemia
The result of a single
base pair substitution
(GAA to GUA in RNA),
changes valine to
glutamic acid
Creates sickle-shaped
red blood cell
Not efficient at carrying
oxygen to cells

Mutation Examples
Sickle-cell anemia
Prone to blood clots
Typically lethal if homozygous

Mutation Examples
Sickle-cell anemia
If heterozygous, then carrier
gains some protection
against malaria
Approx. 1 in 375 AfricanAmericans is a carrier

Mutation Examples
Cystic fibrosis
Different possible mutations in a gene that codes for a
sodium channel protein
The most common mutation is a 3 bp deletion (a
single amino acid)
Another mutation converts a codon for arginine to a
stop codon
Another alters the splicing so that an exon is missing
from the mRNA
Over 500 mutations have been recorded that result in
the disease

Mutations
Far more mutations are harmful than helpful
Many advantageous mutations have become
fixed and represent the normal (wild-type) gene
Mutations are responsible for all of the variation
we see in the Earths organisms
Mutation is the raw material on which natural
selection acts