Homo sapiens, Homo neanderthalensis and the Denisova specimen: new insights on their evolutionary histories using whole-genome comparisons

Genetics and Molecular Biology

Vanessa Rodrigues Paixão-côrtes¹  Lucas Henrique Viscardi¹  Francisco Mauro Salzano¹  Tábita Hünemeier¹  Maria Cátira Bortolini¹ 

[1] ,Universidade Federal do Rio Grande do Sul Instituto de Biociências Departamento de GenéticaPorto Alegre RS ,Brazil

关键词: human evolution;    comparative genomics;    positive selection;    Neanderthal;    Denisova;   

DOI  :  10.1590/S1415-47572012000600003

来源: SciELO

【 摘 要 】

After a brief review of the most recent findings in the study of human evolution, an extensive comparison of the complete genomes of our nearest relative, the chimpanzee (Pan troglodytes), of extant Homo sapiens, archaic Homo neanderthalensis and the Denisova specimen were made. The focus was on non-synonymous mutations, which consequently had an impact on protein levels and these changes were classified according to degree of effect. A total of 10,447 non-synonymous substitutions were found in which the derived allele is fixed or nearly fixed in humans as compared to chimpanzee. Their most frequent location was on chromosome 21. Their presence was then searched in the two archaic genomes. Mutations in 381 genes would imply radical amino acid changes, with a fraction of these related to olfaction and other important physiological processes. Eight new alleles were identified in the Neanderthal and/or Denisova genetic pools. Four others, possibly affecting cognition, occured both in the sapiens and two other archaic genomes. The selective sweep that gave rise to Homo sapiens could, therefore, have initiated before the modern/archaic human divergence.

【 授权许可】

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