A scan for positively selected genes in the genomes of humans and chimpanzees.

Since the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At the molecular level, despite the small overall magnitude of DNA sequence divergence, we might expect such evolu...

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Main Authors: Rasmus Nielsen, Carlos Bustamante, Andrew G Clark, Stephen Glanowski, Timothy B Sackton, Melissa J Hubisz, Adi Fledel-Alon, David M Tanenbaum, Daniel Civello, Thomas J White, John J Sninsky, Mark D Adams, Michele Cargill
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2005-06-01
Series:PLoS Biology
Online Access:https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.0030170&type=printable
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author Rasmus Nielsen
Carlos Bustamante
Andrew G Clark
Stephen Glanowski
Timothy B Sackton
Melissa J Hubisz
Adi Fledel-Alon
David M Tanenbaum
Daniel Civello
Thomas J White
John J Sninsky
Mark D Adams
Michele Cargill
author_facet Rasmus Nielsen
Carlos Bustamante
Andrew G Clark
Stephen Glanowski
Timothy B Sackton
Melissa J Hubisz
Adi Fledel-Alon
David M Tanenbaum
Daniel Civello
Thomas J White
John J Sninsky
Mark D Adams
Michele Cargill
author_sort Rasmus Nielsen
collection DOAJ
description Since the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At the molecular level, despite the small overall magnitude of DNA sequence divergence, we might expect such evolutionary changes to leave a noticeable signature throughout the genome. We here compare 13,731 annotated genes from humans to their chimpanzee orthologs to identify genes that show evidence of positive selection. Many of the genes that present a signature of positive selection tend to be involved in sensory perception or immune defenses. However, the group of genes that show the strongest evidence for positive selection also includes a surprising number of genes involved in tumor suppression and apoptosis, and of genes involved in spermatogenesis. We hypothesize that positive selection in some of these genes may be driven by genomic conflict due to apoptosis during spermatogenesis. Genes with maximal expression in the brain show little or no evidence for positive selection, while genes with maximal expression in the testis tend to be enriched with positively selected genes. Genes on the X chromosome also tend to show an elevated tendency for positive selection. We also present polymorphism data from 20 Caucasian Americans and 19 African Americans for the 50 annotated genes showing the strongest evidence for positive selection. The polymorphism analysis further supports the presence of positive selection in these genes by showing an excess of high-frequency derived nonsynonymous mutations.
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spelling doaj-art-b6ed3d9df35442e59f62defb4e4f85be2025-08-20T02:17:21ZengPublic Library of Science (PLoS)PLoS Biology1544-91731545-78852005-06-0136e17010.1371/journal.pbio.0030170A scan for positively selected genes in the genomes of humans and chimpanzees.Rasmus NielsenCarlos BustamanteAndrew G ClarkStephen GlanowskiTimothy B SacktonMelissa J HubiszAdi Fledel-AlonDavid M TanenbaumDaniel CivelloThomas J WhiteJohn J SninskyMark D AdamsMichele CargillSince the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At the molecular level, despite the small overall magnitude of DNA sequence divergence, we might expect such evolutionary changes to leave a noticeable signature throughout the genome. We here compare 13,731 annotated genes from humans to their chimpanzee orthologs to identify genes that show evidence of positive selection. Many of the genes that present a signature of positive selection tend to be involved in sensory perception or immune defenses. However, the group of genes that show the strongest evidence for positive selection also includes a surprising number of genes involved in tumor suppression and apoptosis, and of genes involved in spermatogenesis. We hypothesize that positive selection in some of these genes may be driven by genomic conflict due to apoptosis during spermatogenesis. Genes with maximal expression in the brain show little or no evidence for positive selection, while genes with maximal expression in the testis tend to be enriched with positively selected genes. Genes on the X chromosome also tend to show an elevated tendency for positive selection. We also present polymorphism data from 20 Caucasian Americans and 19 African Americans for the 50 annotated genes showing the strongest evidence for positive selection. The polymorphism analysis further supports the presence of positive selection in these genes by showing an excess of high-frequency derived nonsynonymous mutations.https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.0030170&type=printable
spellingShingle Rasmus Nielsen
Carlos Bustamante
Andrew G Clark
Stephen Glanowski
Timothy B Sackton
Melissa J Hubisz
Adi Fledel-Alon
David M Tanenbaum
Daniel Civello
Thomas J White
John J Sninsky
Mark D Adams
Michele Cargill
A scan for positively selected genes in the genomes of humans and chimpanzees.
PLoS Biology
title A scan for positively selected genes in the genomes of humans and chimpanzees.
title_full A scan for positively selected genes in the genomes of humans and chimpanzees.
title_fullStr A scan for positively selected genes in the genomes of humans and chimpanzees.
title_full_unstemmed A scan for positively selected genes in the genomes of humans and chimpanzees.
title_short A scan for positively selected genes in the genomes of humans and chimpanzees.
title_sort scan for positively selected genes in the genomes of humans and chimpanzees
url https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.0030170&type=printable
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