Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Øster Voldgade 5-7, 1350 Copenhagen K, Denmark.
Nature. 2013 Jul 4;499(7456):74-8. doi: 10.1038/nature12323. Epub 2013 Jun 26.
The rich fossil record of equids has made them a model for evolutionary processes. Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560-780 thousand years before present (kyr BP). Our data represent the oldest full genome sequence determined so far by almost an order of magnitude. For comparison, we sequenced the genome of a Late Pleistocene horse (43 kyr BP), and modern genomes of five domestic horse breeds (Equus ferus caballus), a Przewalski's horse (E. f. przewalskii) and a donkey (E. asinus). Our analyses suggest that the Equus lineage giving rise to all contemporary horses, zebras and donkeys originated 4.0-4.5 million years before present (Myr BP), twice the conventionally accepted time to the most recent common ancestor of the genus Equus. We also find that horse population size fluctuated multiple times over the past 2 Myr, particularly during periods of severe climatic changes. We estimate that the Przewalski's and domestic horse populations diverged 38-72 kyr BP, and find no evidence of recent admixture between the domestic horse breeds and the Przewalski's horse investigated. This supports the contention that Przewalski's horses represent the last surviving wild horse population. We find similar levels of genetic variation among Przewalski's and domestic populations, indicating that the former are genetically viable and worthy of conservation efforts. We also find evidence for continuous selection on the immune system and olfaction throughout horse evolution. Finally, we identify 29 genomic regions among horse breeds that deviate from neutrality and show low levels of genetic variation compared to the Przewalski's horse. Such regions could correspond to loci selected early during domestication.
马的丰富化石记录使其成为进化过程的模式。在这里,我们从保存在永冻层中的马骨中获得了一份约 56 万至 78 万年前的 1.12 倍覆盖率的基因组草图。我们的数据代表了迄今为止通过几乎一个数量级确定的最古老的全基因组序列。相比之下,我们对一匹晚更新世马(43 千年前)的基因组进行了测序,以及五个现代家马品种(Equus ferus caballus)、一匹普氏野马(E. f. przewalskii)和一头驴(E. asinus)的现代基因组。我们的分析表明,所有现代马、斑马和驴的起源于 4.0-4.5 百万年前(Myr BP),是公认的马属最近共同祖先的两倍。我们还发现,过去 200 万年中,马的种群数量多次波动,尤其是在气候剧烈变化期间。我们估计普氏野马和家马种群在 38-72 千年前分化,并且在所研究的普氏野马和家马品种之间没有发现近期混合的证据。这支持了普氏野马是现存唯一的野生马种群的观点。我们发现普氏野马和家马种群之间存在相似水平的遗传变异,表明前者具有遗传可行性,值得进行保护工作。我们还发现,在马的进化过程中,免疫系统和嗅觉一直受到持续选择。最后,我们在马的品种中发现了 29 个偏离中性的基因组区域,与普氏野马相比,这些区域的遗传变异水平较低。这些区域可能对应于在驯化早期选择的基因座。