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Patterns of heterozygosity and inbreeding in Neandertals across Eurasia

AutorKuhlwilm, Martin; Lalueza-Fox, Carles ; Rasilla, Marco de la; Rosas, Antonio ; Rudan, Pavao; Brajković, Dejana; Kućan, Zeljko; Gusić, Ivan; Pääbo, Svante; Castellano, Sergi
Fecha de publicaciónjun-2014
CitaciónAnnual Meeting of the Society for Molecular Biology & Evolution (2014)
ResumenThe high-coverage sequencing of a Neandertal and a Denisovan individual from the Altai Mountains in Siberia provided insights into the history and relationships of these archaic individuals to modern humans (Meyer et al. 2012; Prüfer et al. 2014). We used densely tiled oligonucleotide probes to capture 30 million bases of the human chromosome 21 from two Neandertal individuals from El Sidrón in Spain and Vindija in Croatia, and sequenced them to 12- and 34-fold, respectively. We compared the genotypes of these individuals to the same regions from the chromosomes 21 of the Altai Neandertal and a Denisovan, as well as to 25 present-day humans sampled from different populations around the world. Heterozygosities in the two Neandertals from Europe are similar to that of the Denisovan individual and about one third of the lowest heterozygosity seen in the present-day humans. Only the Altai Neandertal shows a lower heterozygosity. As described, the Altai Neandertal shows a large number of large regions of homozygosity that are the result of inbreeding on the scale of half-siblings. The two European Neandertals show fewer and smaller such regions of homozygosity that are still larger than what is seen in any of the present-day humans. These results suggest that the long-term population size of Neandertals across their geographic range was low, while only the Altai Neandertal shows an excess of long homozygous regions due to recent inbreeding.
DescripciónTrabajo presentado en la Annual Meeting of the Society for Molecular Biology & Evolution (SMBE 2014), celebrada en Puerto Rico del 8 al 12 de junio de 2014.
URIhttp://hdl.handle.net/10261/155699
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