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Proc Natl Acad Sci U S A ; 111(18): 6666-71, 2014 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-24753607

RESUMO

We present the DNA sequence of 17,367 protein-coding genes in two Neandertals from Spain and Croatia and analyze them together with the genome sequence recently determined from a Neandertal from southern Siberia. Comparisons with present-day humans from Africa, Europe, and Asia reveal that genetic diversity among Neandertals was remarkably low, and that they carried a higher proportion of amino acid-changing (nonsynonymous) alleles inferred to alter protein structure or function than present-day humans. Thus, Neandertals across Eurasia had a smaller long-term effective population than present-day humans. We also identify amino acid substitutions in Neandertals and present-day humans that may underlie phenotypic differences between the two groups. We find that genes involved in skeletal morphology have changed more in the lineage leading to Neandertals than in the ancestral lineage common to archaic and modern humans, whereas genes involved in behavior and pigmentation have changed more on the modern human lineage.


Assuntos
Exoma , Variação Genética , Homem de Neandertal/genética , Substituição de Aminoácidos , Animais , Croácia , DNA/genética , Frequência do Gene , Humanos , Paleontologia , Filogenia , Polimorfismo de Nucleotídeo Único , Sibéria , Espanha
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