학술논문

Genome sequence of a 45,000-year-old modern human from western Siberia
Document Type
article
Source
Nature. 514(7523)
Subject
Genetics
Biotechnology
Human Genome
Alleles
Animals
Chromosomes
Human
Pair 12
Diet
Evolution
Molecular
Fossils
Genome
Human
Humans
Hybridization
Genetic
Male
Molecular Sequence Data
Mutation Rate
Neanderthals
Phylogeny
Population Density
Population Dynamics
Principal Component Analysis
Sequence Analysis
DNA
Siberia
General Science & Technology
Language
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.