● Genes and Multigene Families
○ Many eukaryotic genes are present in one copy per
haploid set of chromosomes ● Introduction
○ The rest of genes occur in multigene families ○ Three Scenarios Contributing to Genome Evolution
■ Collections of two or more identical or very ■ Duplication
similar genes ■ Rearrangement
■ Some multigene families consist of identical ■ Mutation
DNA sequences, usually clustered tandemly ○ Mutation
● Ex: genes that code for rRNA products ■ Basis of change at the genomic level
● S - svedberg unit - rate of sedimentation ■ Underlies much of genome evolution
■ Classic examples of multigene families of ○ Earliest forms of life likely had only genes necessary
nonidentical genes are two related families of for survival and reproduction
genes that encode globins ■ Size of genome increased over evolutionary
● α-globins and β-globins are time
polypeptides of hemoglobin coded by ■ Extra genetic material provided raw material
genes on different human chromosomes for gene diversification
and are expressed at different times in ○ Prokaryotic genomes have dense genomes
development ● Duplications of Entire Chromosome Sets
○ Genes With Novel Functions Can Evolve
■ Accidents in meiosis can lead to one or more
extra sets of chromosomes - polyploidy
■ Genes in one or more of the extra sets may
diverge by accumulating mutations
■ Variations may persist is organism carrying
them survives and reproduces
● Alterations of Chromosome Structure ■ This indicates that the genes in each block
○ Humans and Chimpanzees stayed together in both human and mouse
lineages
○ Duplications and inversions result from mistakes
during meiotic recombination
○ Comparative analysis between chromosomes of
humans and seven mammalian species paints a
hypothetical chromosomal evolutionary history
■ Rate of duplication and inversion seems to have
accelerated about 100 M years ago
■ Humans have 23 pairs of chromosomes, while ■ Coincides with the time large dinosaurs went
chimpanzees have 24 pairs extinct and mammals diversified (late
■ Following the divergence of humans and Cretaceous)
chimpanzees, 2 ancestral chromosomes fused ■ Chromosomal rearrangements are thought to
in the human line contribute to the generation of new species
● C2 in humans, C12 + C13 in chimpanzees ● Duplications and Divergence of Gene-Sized Regions of
○ Humans and Mice DNA
○ Unequal crossing over during prophase I of meiosis
can result in:
■ One chromosome with a deletion
■ Another chromosome with a duplication
■ Large blocks of genes on human chromosome
16 are found on 4 mouse chromosomes (7, 8,
16, 17)
○ After the duplication events, differences between the
genes in the globin family arose from the
accumulation of allowable mutations
○ Subsequent duplications and random mutations gave
rise to the present globin genes which code for
oxygen-binding proteins
○ The similarity in the amino acid sequences of the
various globin proteins supports this model of gene
duplication and mutation
○ Transposable elements can provide sites for
● Evolution of Genes with Novel Functions: Lysozymes
crossover between nonsister chromatids
● Evolution of Genes with Related Functions: The Human
Globin Genes
○ Copies of some duplicated genes have diverged so
much in evolution that the functions of their encoded
proteins are now different
○ Lysozyme gene was duplicated and evolved into the
gene that encodes α-lactalbumin in mammals
■ Lysozyme - enzyme that helps protect animals
○ Genes encoding the various globin proteins evolved against bacterial infection
from one common ancestral globin gene which ■ α-lactalbumin - non enzymatic protein that
duplicated and diverged about 450 to 500 M years plays a role in milk production in mammals
ago (Cambrian explosion)
● Rearrangements of Parts of Genes: Exon Duplication and ○ In protein-coding sequence
Exon Shuffling ■ Insertion of transposable elements within a
○ Errors in meiosis can result in an exon being duplicated protein-coding sequence may block protein
on one chromosome and deleted from the homologous production
chromosome ○ In regulatory sequence
○ In exon shuffling, ■ Insertion of transposable elements within a
errors in meiotic regulatory sequence may increase or decrease
recombination lead to protein production
some mixing and ○ In genes
matching of exons, ■ Transposable elements may carry a gene or
either within a gene groups of genes to a new position
or between two nonallelic genes ○ In RNA transcript
○ The current version of the gene for Tissue ■ Transposable elements may also create new
Plasminogen Activator (TPA) is thought to have sites for alternative splicing in an RNA
arisen by several instances of exon shuffling and transcript
subsequent duplication ○ In all cases
■ TPA prevents clots ■ Changes are usually detrimental
● How Transposable Elements Contribute to Genome ■ On occasion, may prove advantageous to an
Evolution organism
○ In chromosomes
■ Multiple copies of similar transposable elements
facilitate recombination or crossing over
between different chromosomes