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Título

Patterns of coding variation in the complete exomes of three Neandertals

AutorCastellano, Sergi; Sánchez-Quinto, Federico ; Lalueza-Fox, Carles ; Rosas, Antonio; Pääbo, Svante
Palabras claveAncient DNA
Exome capture
Site frequency spectra
Paleogenetics
Fecha de publicación21-mar-2014
EditorNational Academy of Sciences (U.S.)
CitaciónProceedings of the National Academy of Sciences 111(18): 6666-6671 (2014)
ResumenWe 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.
Versión del editorhttp://dx.doi.org/10.1073/pnas.1405138111
URIhttp://hdl.handle.net/10261/115403
DOI10.1073/pnas.1405138111
Identificadoresdoi: 10.1073/pnas.1405138111
issn: 1091-6490
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