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  • Wetterbom, AnnaUppsala universitet,Institutionen för genetik och patologi (author)

Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution

  • Article/chapterEnglish2006

Publisher, publication year, extent ...

  • 2006-10-29
  • Springer Science and Business Media LLC,2006
  • printrdacarrier

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  • LIBRIS-ID:oai:DiVA.org:uu-10256
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-10256URI
  • https://doi.org/10.1007/s00239-006-0045-7DOI

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  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

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  • Sequence comparison of humans and chimpanzees is of interest to understand the mechanisms behind primate evolution. Here we present an independent analysis of human chromosome 21 and the high-quality BAC clone sequences of the homologous chimpanzee chromosome 22. In contrast to previous studies, we have used global alignment methods and Ensembl predictions of protein coding genes (n = 224) for the analysis. Divergence due to insertions and deletions (indels) along with substitutions was examined separately for different genomic features (coding, noncoding genic, and intergenic sequence). The major part of the genomic divergence could be attributed to indels (5.07%), while the nucleotide divergence was estimated as 1.52%. Thus the total divergence was estimated as 6.58%. When excluding repeats and low-complexity DNA the total divergence decreased to 2.37%. The chromosomal distribution of nucleotide substitutions and indel events was significantly correlated. To further examine the role of indels in primate evolution we focused on coding sequences. Indels were found within the coding sequence of 13% of the genes and approximately half of the indels have not been reported previously. In 5% of the chimpanzee genes, indels or substitutions caused premature stop codons that rendered the affected transcripts nonfunctional. Taken together, our findings demonstrate that indels comprise the majority of the genomic divergence. Furthermore, indels occur frequently in coding sequences. Our results thereby support the hypothesis that indels may have a key role in primate evolution.

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  • Sevov, MarieUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)masev498 (author)
  • Cavelier, LuciaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)lucicava (author)
  • Bergström, TomasUppsala universitet,Institutionen för genetik och patologi,Centrum för bioinformatik(Swepub:uu)tomasbs (author)
  • Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

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  • In:Journal of Molecular Evolution: Springer Science and Business Media LLC63:5, s. 682-6900022-28441432-1432

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By the author/editor
Wetterbom, Anna
Sevov, Marie
Cavelier, Lucia
Bergström, Tomas
About the subject
NATURAL SCIENCES
NATURAL SCIENCES
and Biological Scien ...
and Genetics
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Journal of Molec ...
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Uppsala University

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