TY - JOUR
T1 - Patterns of coding variation in the complete exomes of three Neandertals
AU - Castellano, Sergi
AU - Parra, Genís
AU - Sánchez-Quinto, Federico A.
AU - Racimo, Fernando
AU - Kuhlwilm, Martin
AU - Kircher, Martin
AU - Sawyer, Susanna
AU - Fu, Qiaomei
AU - Heinze, Anja
AU - Nickel, Birgit
AU - Dabney, Jesse
AU - Siebauer, Michael
AU - White, Louise
AU - Burbano, Hernán A.
AU - Renaud, Gabriel
AU - Stenzel, Udo
AU - Lalueza-Fox, Carles
AU - De La Rasilla, Marco
AU - Rosas, Antonio
AU - Rudan, Pavao
AU - Brajkoviæ, Dejana
AU - Kucan, Željko
AU - Gušic, Ivan
AU - Shunkov, Michael V.
AU - Derevianko, Anatoli P.
AU - Viola, Bence
AU - Meyer, Matthias
AU - Kelso, Janet
AU - Andrés, Aida M.
AU - Pääbo, Svante
PY - 2014/5/6
Y1 - 2014/5/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84899881782&partnerID=8YFLogxK
U2 - 10.1073/pnas.1405138111
DO - 10.1073/pnas.1405138111
M3 - Journal articles
C2 - 24753607
AN - SCOPUS:84899881782
SN - 0027-8424
VL - 111
SP - 6666
EP - 6671
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 18
ER -