Sequencing the nuclear genome of the extinct woolly mammoth.

Abstract:

:In 1994, two independent groups extracted DNA from several Pleistocene epoch mammoths and noted differences among individual specimens. Subsequently, DNA sequences have been published for a number of extinct species. However, such ancient DNA is often fragmented and damaged, and studies to date have typically focused on short mitochondrial sequences, never yielding more than a fraction of a per cent of any nuclear genome. Here we describe 4.17 billion bases (Gb) of sequence from several mammoth specimens, 3.3 billion (80%) of which are from the woolly mammoth (Mammuthus primigenius) genome and thus comprise an extensive set of genome-wide sequence from an extinct species. Our data support earlier reports that elephantid genomes exceed 4 Gb. The estimated divergence rate between mammoth and African elephant is half of that between human and chimpanzee. The observed number of nucleotide differences between two particular mammoths was approximately one-eighth of that between one of them and the African elephant, corresponding to a separation between the mammoths of 1.5-2.0 Myr. The estimated probability that orthologous elephant and mammoth amino acids differ is 0.002, corresponding to about one residue per protein. Differences were discovered between mammoth and African elephant in amino-acid positions that are otherwise invariant over several billion years of combined mammalian evolution. This study shows that nuclear genome sequencing of extinct species can reveal population differences not evident from the fossil record, and perhaps even discover genetic factors that affect extinction.

journal_name

Nature

journal_title

Nature

authors

Miller W,Drautz DI,Ratan A,Pusey B,Qi J,Lesk AM,Tomsho LP,Packard MD,Zhao F,Sher A,Tikhonov A,Raney B,Patterson N,Lindblad-Toh K,Lander ES,Knight JR,Irzyk GP,Fredrikson KM,Harkins TT,Sheridan S,Pringle T,Schuste

doi

10.1038/nature07446

subject

Has Abstract

pub_date

2008-11-20 00:00:00

pages

387-90

issue

7220

eissn

0028-0836

issn

1476-4687

pii

nature07446

journal_volume

456

pub_type

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