학술논문

The complete genome sequence of a Neanderthal from the Altai Mountains
Document Type
article
Source
Nature. 505(7481)
Subject
Human Genome
Genetics
Africa
Animals
Caves
DNA Copy Number Variations
Female
Fossils
Gene Flow
Gene Frequency
Genome
Heterozygote
Humans
Inbreeding
Models
Genetic
Neanderthals
Phylogeny
Population Density
Siberia
Toe Phalanges
General Science & Technology
Language
Abstract
We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.