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Human and Non-Human Primate Genomes Share Hotspots of Positive
Selection


Among primates, genome-wide analysis of recent positive selection is currently

limited to the human species because it requires extensive sampling of genotypic

data from many individuals. The extent to which genes positively selected in

human also present adaptive changes in other primates therefore remains unknown.

This question is important because a gene that has been positively selected

independently in the human and in other primate lineages may be less likely to

be involved in human specific phenotypic changes such as dietary habits or

cognitive abilities. To answer this question, we analysed heterozygous Single

Nucleotide Polymorphisms (SNPs) in the genomes of single human, chimpanzee,

orangutan, and macaque individuals using a new method aiming to identify

selective sweeps genome-wide. We found an unexpectedly high number of

orthologous genes exhibiting signatures of a selective sweep simultaneously in

several primate species, suggesting the presence of hotspots of positive

selection. A similar significant excess is evident when comparing genes

positively selected during recent human evolution with genes subjected to

positive selection in their coding sequence in other primate lineages and

identified using a different test. These findings are further supported by

comparing several published human genome scans for positive selection with our

findings in non-human primate genomes. We thus provide extensive evidence that

the co-occurrence of positive selection in humans and in other primates at the

same genetic loci can be measured with only four species, an indication that it

may be a widespread phenomenon. The identification of positive selection in

humans alongside other primates is a powerful tool to outline those genes that

were selected uniquely during recent human evolution.


Vyšlo v časopise: Human and Non-Human Primate Genomes Share Hotspots of Positive Selection. PLoS Genet 6(2): e32767. doi:10.1371/journal.pgen.1000840
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1000840

Souhrn

Among primates, genome-wide analysis of recent positive selection is currently

limited to the human species because it requires extensive sampling of genotypic

data from many individuals. The extent to which genes positively selected in

human also present adaptive changes in other primates therefore remains unknown.

This question is important because a gene that has been positively selected

independently in the human and in other primate lineages may be less likely to

be involved in human specific phenotypic changes such as dietary habits or

cognitive abilities. To answer this question, we analysed heterozygous Single

Nucleotide Polymorphisms (SNPs) in the genomes of single human, chimpanzee,

orangutan, and macaque individuals using a new method aiming to identify

selective sweeps genome-wide. We found an unexpectedly high number of

orthologous genes exhibiting signatures of a selective sweep simultaneously in

several primate species, suggesting the presence of hotspots of positive

selection. A similar significant excess is evident when comparing genes

positively selected during recent human evolution with genes subjected to

positive selection in their coding sequence in other primate lineages and

identified using a different test. These findings are further supported by

comparing several published human genome scans for positive selection with our

findings in non-human primate genomes. We thus provide extensive evidence that

the co-occurrence of positive selection in humans and in other primates at the

same genetic loci can be measured with only four species, an indication that it

may be a widespread phenomenon. The identification of positive selection in

humans alongside other primates is a powerful tool to outline those genes that

were selected uniquely during recent human evolution.


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Štítky
Genetika Reprodukčná medicína

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PLOS Genetics


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