title: Patterns of coding variation in the complete exomes of three Neandertals.
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.
authors.affiliation: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
authors.forename: Sergi
authors.initials: S
authors.lastname: Castellano
authors.forename: Genís
authors.initials: G
authors.lastname: Parra
authors.forename: Federico A
authors.initials: FA
authors.lastname: Sánchez-Quinto
authors.forename: Fernando
authors.initials: F
authors.lastname: Racimo
authors.forename: Martin
authors.initials: M
authors.lastname: Kuhlwilm
authors.forename: Martin
authors.initials: M
authors.lastname: Kircher
authors.forename: Susanna
authors.initials: S
authors.lastname: Sawyer
authors.forename: Qiaomei
authors.initials: Q
authors.lastname: Fu
authors.forename: Anja
authors.initials: A
authors.lastname: Heinze
authors.forename: Birgit
authors.initials: B
authors.lastname: Nickel
authors.forename: Jesse
authors.initials: J
authors.lastname: Dabney
authors.forename: Michael
authors.initials: M
authors.lastname: Siebauer
authors.forename: Louise
authors.initials: L
authors.lastname: White
authors.forename: Hernán A
authors.initials: HA
authors.lastname: Burbano
authors.forename: Gabriel
authors.initials: G
authors.lastname: Renaud
authors.forename: Udo
authors.initials: U
authors.lastname: Stenzel
authors.forename: Carles
authors.initials: C
authors.lastname: Lalueza-Fox
authors.forename: Marco
authors.initials: M
authors.lastname: de la Rasilla
authors.forename: Antonio
authors.initials: A
authors.lastname: Rosas
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
authors.forename: Dejana
authors.initials: D
authors.lastname: Brajković
authors.forename: Željko
authors.initials: Ž
authors.lastname: Kucan
authors.forename: Ivan
authors.initials: I
authors.lastname: Gušic
authors.forename: Michael V
authors.initials: MV
authors.lastname: Shunkov
authors.forename: Anatoli P
authors.initials: AP
authors.lastname: Derevianko
authors.forename: Bence
authors.initials: B
authors.lastname: Viola
authors.forename: Matthias
authors.initials: M
authors.lastname: Meyer
authors.forename: Janet
authors.initials: J
authors.lastname: Kelso
authors.forename: Aida M
authors.initials: AM
authors.lastname: Andrés
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D017523:Croatia; D004247:DNA / Q000235:genetics; D059472:Exome; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D059125:Neanderthals / Q000235:genetics*; D010163:Paleontology; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D012800:Siberia; D013030:Spain
chemical_list: D004247:DNA
keywords: ancient DNA; exome capture; paleogenetics; site frequency spectra
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