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Nature ; 514(7523): 445-9, 2014 Oct 23.
Article in English | MEDLINE | ID: mdl-25341783

ABSTRACT

We present the high-quality genome sequence of a ∼45,000-year-old modern human male from Siberia. This individual derives from a population that lived before-or simultaneously with-the separation of the populations in western and eastern Eurasia and carries a similar amount of Neanderthal ancestry as present-day Eurasians. However, the genomic segments of Neanderthal ancestry are substantially longer than those observed in present-day individuals, indicating that Neanderthal gene flow into the ancestors of this individual occurred 7,000-13,000 years before he lived. We estimate an autosomal mutation rate of 0.4 × 10(-9) to 0.6 × 10(-9) per site per year, a Y chromosomal mutation rate of 0.7 × 10(-9) to 0.9 × 10(-9) per site per year based on the additional substitutions that have occurred in present-day non-Africans compared to this genome, and a mitochondrial mutation rate of 1.8 × 10(-8) to 3.2 × 10(-8) per site per year based on the age of the bone.


Subject(s)
Fossils , Genome, Human/genetics , Alleles , Animals , Chromosomes, Human, Pair 12/genetics , Diet , Evolution, Molecular , Humans , Hybridization, Genetic/genetics , Male , Molecular Sequence Data , Mutation Rate , Neanderthals/genetics , Phylogeny , Population Density , Population Dynamics , Principal Component Analysis , Sequence Analysis, DNA , Siberia
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