| Literature DB >> 24753607 |
Sergi Castellano1, Genís Parra, Federico A Sánchez-Quinto, Fernando Racimo, Martin Kuhlwilm, Martin Kircher, Susanna Sawyer, Qiaomei Fu, Anja Heinze, Birgit Nickel, Jesse Dabney, Michael Siebauer, Louise White, Hernán A Burbano, Gabriel Renaud, Udo Stenzel, Carles Lalueza-Fox, Marco de la Rasilla, Antonio Rosas, Pavao Rudan, Dejana Brajković, Željko Kucan, Ivan Gušic, Michael V Shunkov, Anatoli P Derevianko, Bence Viola, Matthias Meyer, Janet Kelso, Aida M Andrés, Svante Pääbo.
Abstract
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.Entities:
Keywords: ancient DNA; exome capture; paleogenetics; site frequency spectra
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Year: 2014 PMID： 24753607 PMCID： PMC4020111 DOI： 10.1073/pnas.1405138111
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205