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PMID: 12727903 Published · ppublish English Comparative Study Journal Article

Selection on human genes as revealed by comparisons to chimpanzee cDNA.

Genome research ·Vol. 13 ·No. 5 ·2003-05-00 ·Pages 831-7

Hellmann I, Zollner S, Enard W, Ebersberger I, Nickel B, Paabo S

Abstract

To better understand the evolutionary forces that affect human genes, we sequenced 5055 expressed sequence tags from the chimpanzee and compared them to their human counterparts. In conjunction with intergenic chimpanzee DNA sequences and data on human single-nucleotide polymorphisms in the genes studied, this allows us to gauge the extent to which selection affects human genes at a genome-wide scale. The comparison to intergenic DNA sequences indicates that about 39% of silent sites in protein-coding regions are deleterious and subject to negative selection. Further, when the divergence between human and chimpanzee is compared with the extent of nucleotide polymorphisms among humans in the same sequences, there is significantly higher divergence in the 5' untranslated regions (UTRs) but not in other parts of the transcript. This indicates that positive selection may have had a considerable influence on 5'UTRs. The dinucleotide CG (CpG) also exhibits a different substitution pattern within 5'UTRs as compared with other parts of the genome.

MeSH Terms
Amino Acid Substitution/genetics Animals CpG Islands/genetics DNA, Complementary/genetics Evolution, Molecular Expressed Sequence Tags Genes/genetics Humans Pan troglodytes/genetics Polymorphism, Single Nucleotide/genetics Selection, Genetic Sequence Analysis, DNA/methods Untranslated Regions/genetics
Chemicals
DNA, Complementary Untranslated Regions
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Hellmann Ines
Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Zollner Sebastian
Enard Wolfgang
Ebersberger Ingo
Nickel Birgit
Paabo Svante
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.944903
Published
2003-05-00
Pages
831-7
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC430916
Subset
IM
External Links
PubMed source DOI: 10.1101/gr.944903 PMC Full Text View journal details
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