Forces shaping the fastest evolving regions in the human genome

Pollard, K. S., Salama, S. R., King, B., Kern, A. D., Dreszer, T., Katzman, S., Siepel, A., Pedersen, J. S., Bejerano, G., Baertsch, R., Rosenbloom, K. R., Kent, J., Haussler, D. (2006) Forces shaping the fastest evolving regions in the human genome. PLoS Genet, 2 (10). e168. ISSN 1553-7390

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URL: http://www.ncbi.nlm.nih.gov/pubmed/17040131
DOI: 10.1371/journal.pgen.0020168

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.

Item Type: Paper
Uncontrolled Keywords: Animals Base Pairing Base Sequence Conserved Sequence *Evolution, Molecular Genome, Human/*genetics Humans Molecular Sequence Data Recombination, Genetic Regulatory Elements, Transcriptional/genetics *Selection, Genetic Sequence Analysis, DNA Species Specificity
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > comparative genomics
evolution
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
CSHL Authors:
Communities: CSHL labs > Siepel lab
Depositing User: Matt Covey
Date Deposited: 13 Jan 2015 19:47
Last Modified: 13 Jan 2015 19:47
PMCID: PMC1599772
Related URLs:
URI: http://repository.cshl.edu/id/eprint/31090

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