Naslov
Patterns of coding variation in the complete exomes of three Neandertals

Autori
Castellano, Sergi ; Parra, Genís ; Sánchez-Quinto, Federico A. ; Racimo, Fernando ; Kuhlwilm, Martin ; Kircher, Martin ; Sawyer, Susanna ; Fu, Qiaomei ; Heinze, Anja ; Nickel, Birgit ; Dabney, Jesse ; Siebauer, Michael ; White, Louise ; Burbano, Hernán A. ; Renaud, Gabriel ; Stenze, Udo ; Lalueza-Fox, Carles ; De la Rasilla, Marco Antonio ; Rudan, Pavao ; Brajković, Dejana ; Kućan, Željko ; Gušić, Ivan ; Shunkov, Rosas Michael V. ; Derevianko, Anatoli P. ; Viola, Bence ; Meyer, Matthias ; Kelso, Janet ; Andres, Aida M. ; Pääbo, Svante

Izvornik
Proceedings of the National Academy of Sciences of the United States of America (0027-8424) 111 (2014), 18; 6666-6671

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
coding; Neandertals; DNA; variation; Spain; Croatia; Siberia; modern humans

Sažetak
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 to 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 (non-synonymous) alleles inferred to alter protein structure or function than present-day humans. Thus, Neandertals across Eurasia had a smaller long-term effective population size 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 on the lineage leading to Neandertals than in the ancestral lineage common to archaic and modern humans, while genes involved in behavior and pigmentation have changed more on the modern human lineage.

Izvorni jezik
Engleski

Znanstvena područja
Geologija

POVEZANOST RADA