Divergence and Gene
Duplications
Gene duplication
• Gene duplication is the process by which a region of DNA
coding for a gene is copied. Gene duplication can occur as the
result of an error in recombination or through a
retrotransposition event.
• Duplicate genes are often immune to the selective pressure
under which genes normally exist.
• This can result in a large number of mutations accumulating in
the duplicate gene code. This may render the gene non-
functional or in some cases confer some benefit to the
organism. There are multiple mechanisms by which gene
duplication can occur.
a) Ectopic recombination b) Replication slipage c) Aneuploidy
Ectopic Recombination
• Duplications can arise from unequal
crossing-over that occurs during meiosis
between misaligned homologous
chromosomes.
• The product of this recombination is a
duplication at the site of the exchange and
a reciprocal deletion.
• Ectopic recombination is typically
mediated by sequence similarity at the
duplicate breakpoints, which form direct
repeats.
• Repetitive genetic elements, such as
transposable elements, offer one source of
repetitive DNA that can facilitate
recombination, and they are often found at
duplication breakpoints in plants and
mammals.
Retrotransposition
• During cellular invasion by a replicating retroelement or
retrovirus, viral proteins copy their genome by reverse
transcribing RNA to DNA. If viral proteins attach
irregularly to cellular mRNA, they can reverse-transcribe
copies of genes to create retrogenes.
• Retrogenes usually lack intronic sequence and often
contain poly A sequences that are also integrated into the
genome. Many retrogenes display changes in gene
regulation in comparison to their parental gene sequences,
which sometimes results in novel functions.
Aneuploidy
• Aneuploidy occurs when nondisjunction at a single
chromosome results in an abnormal number of
chromosomes. Aneuploidy is often harmful and in
mammals regularly leads to spontaneous abortions.
Some aneuploid individuals are viable.
• For example, trisomy 21 in humans leads to Down
syndrome, but it is not fatal. Aneuploidy often alters
gene dosage in ways that are detrimental to the
organism and therefore, will not likely spread through
populations.
Divergence
• Divergence
• Genetic divergence is the process in which two or more populations of an
ancestral species accumulate independent genetic changes through time,
often after the populations have become reproductively isolated for some
period of time.
• In some cases, subpopulations living in ecologically distinct peripheral
environments can exhibit genetic divergence from the remainder of a
population, especially where the range of a population is very large.
• The genetic differences among divergent populations can involve silent
mutations (that have no effect on the phenotype) or give rise to
significant morphological and/or physiological changes. Genetic
divergence will always accompany reproductive isolation, either due to
novel adaptations via selection and/or due to genetic drift, and is the
principal mechanism underlying speciation.
Key points
• Ectopic recombination occurs when there is an unequal crossing-over and the
product of this recombination are a duplication at the site of the exchange and a
reciprocal deletion.
• Gene duplications do not always result in detrimental mutations; they can
contribute to divergent evolution, which causes genetic differences between
groups to develop and eventually form new species.
• Replication slippage can occur when there is an error during DNA replication and
duplications of short genetic sequences are produced.
• Retrotranspositions occur when a retrovirus copies their genome by reverse
transcribing RNA to DNA and aberrantly attach to cellular mRNA and reverse
transcribe copies of genes to create retrogenes.
• Aneuploidy can occur when there is a nondisjunction even at a single chromosome
thus, the result is an abnormal number of chromosomes.
• Genetic divergence can occur by mechanisms such as genetic drift which contribute
to the accumulation of independent genetic changes of two or more populations
derived from a common ancestor.
