Genetics & Sex

Genetic Variation

Darwin’s understanding of inheritance

Gregor Mendel (experiments in 1850s & 1860s)

Linking Mendel’s & Darwin’s insights through the “Modern Synthesis”

Dominant/Recessive
 Mendel’s Laws

1. The law of segregation

Each individual has (two) gene copies at each locus;

these copies segregate during gamete formation.
(likewise for polyploids)
2. The law of independent assortment

An allele at one locus that is passed from one generation to

the next is independent from an allele at a different locus.
(unlinked loci)
Blending vs. Particulate inheritance
Blending inheritance would swamp rare favorable mutations
 Proteins are chains of amino acids

• Most proteins function in four ways:

– Enzymes
– Cell-cell signaling
– Receptors
– Structural elements
DNA codes for protein

Mutation: any change

to the genomic
sequence
Eukaryotic DNA is organized into chromosomes
Chromosomes come in homologous pairs

Genes & Alleles

 Ploidy can vary

Ploidy: Number of copies of unique chromosomes in a cell

In diploids (+), mutations may be masked by a functional allele
Allelic interactions can influence phenotype

Diploid organisms make haploid gametes

Genotype vs. Phenotype

Allelic interactions can influence phenotype
 Production of protein from DNA
requires transcription and translation

Central Dogma

Gene expression: process by which information from a gene is

transformed into product
Ribosomes translate mRNA into protein
Gene expression is regulated in a number of ways
RNA splicing can create multiple
proteins from a single gene
 Variation in genome size and complexity

Most variation in size due to differences in mobile genetic elements

Non-coding regions make up most of the genome

• Non-coding regions include:

– RNA genes
– Pseudogenes
– Mobile genetic elements
 Sources of genetic variation

Genetic variation enters a population from 1 of 4 sources:

Mutation

Migration

Lateral gene transfer

Recombination
Types of mutation
Point mutations
Point mutations
Frameshift mutations
Chromosomal mutations
 Sources of genetic variation
Mutations can change:
Individual nucleotides
Series of nucleotides (genes)
Regions of chromosomes (many genes)
Entire chromosomes (& chromosome numbers)

• Somatic mutations: affect cells in the body of an organism; not heritable

• Germ-line mutations: affect gametes; heritable and relevant to evolution

 The effects of mutations on fitness

Three types: 1. Deleterious

2. Beneficial
3. Neutral

Mutations appear at random; they are not directed

Experimentally testing two hypothesis:

1. Random mutations
2. Acquired hereditary resistance
The Luria-Delbrück experiment

Predictions? 1. Random mutations

2. Acquired hereditary resistance
The Luria-Delbrück experiment
Variation in mutation rates
How often are mutations neutral?

Beneficial? Deleterious?
Effects of mutations in Bacteriophage
Experimentally produced mutations

Colors represent function;

Rings represent effect
(in->out: nonsense, missense, silent)

2/3 of mutations changed amino acid sequence

Recombination generates variation
Independent assortment ensures novel
combinations of alleles
 Importance of Sex
• Meiosis generates considerable genetic variation
– Recombination
– Independent assortment
• Fertilization combines gametes from different individuals
 The Phenotype = Genotype + Environment

Evolution
Genotype of Populations

Environment

Phenotype
Development
of Individuals
Simple polymorphisms can produce
differences in phenotype
Sometimes a single genotype can
produce multiple phenotypes

Polyphenic trait: single

genotype produces multiple
phenotypes depending on
environment

Phenotypic plasticity:
different phenotypes
produced by a single
genotype in different
environments
 Quantitative traits influenced by
genes and the environment

Quantitative traits influenced by multiple

Francis Galton (1822-1911) genes; generate a normal distribution
Human height has genetic component
QTL analysis can help discover genes
influencing quantitative traits