Forces shaping the fastest evolving regions in the human genome.

Katherine S Pollard; Sofie R Salama; Bryan King; Andrew D Kern; Tim Dreszer; Sol Katzman; Adam Siepel; Jakob Skou Pedersen; Gill Bejerano; Robert Baertsch; Kate R Rosenbloom; Jim Kent; David Haussler

doi:10.1371/journal.pgen.0020168

Forces shaping the fastest evolving regions in the human genome.

Katherine S Pollard, Sofie R Salama, Bryan King, Andrew D Kern, Tim Dreszer, Sol Katzman, Adam Siepel, Jakob Skou Pedersen, Gill Bejerano, Robert Baertsch, Kate R Rosenbloom, Jim Kent, David Haussler

Functional genomics

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

382 Citationer (Scopus)

Abstract

Udgivelsesdato: 2006-Oct-13

Originalsprog	Engelsk
Tidsskrift	PLoS Genetics
Vol/bind	2
Udgave nummer	10
Sider (fra-til)	e168
ISSN	1553-7390
DOI	https://doi.org/10.1371/journal.pgen.0020168
Status	Udgivet - 2006

Bibliografisk note

Keywords: Animals; Base Pairing; Base Sequence; Conserved Sequence; Evolution, Molecular; Genome, Human; Humans; Molecular Sequence Data; Recombination, Genetic; Regulatory Elements, Transcriptional; Selection (Genetics); Sequence Analysis, DNA; Species Specificity

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title = "Forces shaping the fastest evolving regions in the human genome.",

abstract = "Comparative genomics allow us to search the human genome for segments that were extensively changed in the last approximately 5 million years since divergence from our common ancestor with chimpanzee, but are highly conserved in other species and thus are likely to be functional. We found 202 genomic elements that are highly conserved in vertebrates but show evidence of significantly accelerated substitution rates in human. These are mostly in non-coding DNA, often near genes associated with transcription and DNA binding. Resequencing confirmed that the five most accelerated elements are dramatically changed in human but not in other primates, with seven times more substitutions in human than in chimp. The accelerated elements, and in particular the top five, show a strong bias for adenine and thymine to guanine and cytosine nucleotide changes and are disproportionately located in high recombination and high guanine and cytosine content environments near telomeres, suggesting either biased gene conversion or isochore selection. In addition, there is some evidence of directional selection in the regions containing the two most accelerated regions. A combination of evolutionary forces has contributed to accelerated evolution of the fastest evolving elements in the human genome.",

author = "Pollard, {Katherine S} and Salama, {Sofie R} and Bryan King and Kern, {Andrew D} and Tim Dreszer and Sol Katzman and Adam Siepel and Pedersen, {Jakob Skou} and Gill Bejerano and Robert Baertsch and Rosenbloom, {Kate R} and Jim Kent and David Haussler",

note = "Keywords: Animals; Base Pairing; Base Sequence; Conserved Sequence; Evolution, Molecular; Genome, Human; Humans; Molecular Sequence Data; Recombination, Genetic; Regulatory Elements, Transcriptional; Selection (Genetics); Sequence Analysis, DNA; Species Specificity",

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doi = "10.1371/journal.pgen.0020168",

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T1 - Forces shaping the fastest evolving regions in the human genome.

AU - Pollard, Katherine S

AU - Salama, Sofie R

AU - King, Bryan

AU - Kern, Andrew D

AU - Dreszer, Tim

AU - Katzman, Sol

AU - Siepel, Adam

AU - Pedersen, Jakob Skou

AU - Bejerano, Gill

AU - Baertsch, Robert

AU - Rosenbloom, Kate R

AU - Kent, Jim

AU - Haussler, David

N1 - Keywords: Animals; Base Pairing; Base Sequence; Conserved Sequence; Evolution, Molecular; Genome, Human; Humans; Molecular Sequence Data; Recombination, Genetic; Regulatory Elements, Transcriptional; Selection (Genetics); Sequence Analysis, DNA; Species Specificity

PY - 2006

Y1 - 2006

N2 - Comparative genomics allow us to search the human genome for segments that were extensively changed in the last approximately 5 million years since divergence from our common ancestor with chimpanzee, but are highly conserved in other species and thus are likely to be functional. We found 202 genomic elements that are highly conserved in vertebrates but show evidence of significantly accelerated substitution rates in human. These are mostly in non-coding DNA, often near genes associated with transcription and DNA binding. Resequencing confirmed that the five most accelerated elements are dramatically changed in human but not in other primates, with seven times more substitutions in human than in chimp. The accelerated elements, and in particular the top five, show a strong bias for adenine and thymine to guanine and cytosine nucleotide changes and are disproportionately located in high recombination and high guanine and cytosine content environments near telomeres, suggesting either biased gene conversion or isochore selection. In addition, there is some evidence of directional selection in the regions containing the two most accelerated regions. A combination of evolutionary forces has contributed to accelerated evolution of the fastest evolving elements in the human genome.

AB - Comparative genomics allow us to search the human genome for segments that were extensively changed in the last approximately 5 million years since divergence from our common ancestor with chimpanzee, but are highly conserved in other species and thus are likely to be functional. We found 202 genomic elements that are highly conserved in vertebrates but show evidence of significantly accelerated substitution rates in human. These are mostly in non-coding DNA, often near genes associated with transcription and DNA binding. Resequencing confirmed that the five most accelerated elements are dramatically changed in human but not in other primates, with seven times more substitutions in human than in chimp. The accelerated elements, and in particular the top five, show a strong bias for adenine and thymine to guanine and cytosine nucleotide changes and are disproportionately located in high recombination and high guanine and cytosine content environments near telomeres, suggesting either biased gene conversion or isochore selection. In addition, there is some evidence of directional selection in the regions containing the two most accelerated regions. A combination of evolutionary forces has contributed to accelerated evolution of the fastest evolving elements in the human genome.

U2 - 10.1371/journal.pgen.0020168

DO - 10.1371/journal.pgen.0020168

M3 - Journal article

C2 - 17040131

SN - 1553-7390

VL - 2

SP - e168

JO - PLoS Genetics

JF - PLoS Genetics

IS - 10

ER -