Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
Genome Res. 2012 Apr;22(4):602-10. doi: 10.1101/gr.130468.111. Epub 2011 Dec 29.
Comparative genomic studies in primates have yielded important insights into the evolutionary forces that shape genetic diversity and revealed the likely genetic basis for certain species-specific adaptations. To date, however, these studies have focused on only a small number of species. For the majority of nonhuman primates, including some of the most critically endangered, genome-level data are not yet available. In this study, we have taken the first steps toward addressing this gap by sequencing RNA from the livers of multiple individuals from each of 16 mammalian species, including humans and 11 nonhuman primates. Of the nonhuman primate species, five are lemurs and two are lorisoids, for which little or no genomic data were previously available. To analyze these data, we developed a method for de novo assembly and alignment of orthologous gene sequences across species. We assembled an average of 5721 gene sequences per species and characterized diversity and divergence of both gene sequences and gene expression levels. We identified patterns of variation that are consistent with the action of positive or directional selection, including an 18-fold enrichment of peroxisomal genes among genes whose regulation likely evolved under directional selection in the ancestral primate lineage. Importantly, we found no relationship between genetic diversity and endangered status, with the two most endangered species in our study, the black and white ruffed lemur and the Coquerel's sifaka, having the highest genetic diversity among all primates. Our observations imply that many endangered lemur populations still harbor considerable genetic variation. Timely efforts to conserve these species alongside their habitats have, therefore, strong potential to achieve long-term success.
灵长类动物的比较基因组研究为我们深入了解塑造遗传多样性的进化力量提供了重要的见解,并揭示了某些物种特有的适应性的可能遗传基础。然而,迄今为止,这些研究只集中在少数几个物种上。对于大多数非人类灵长类动物,包括一些最濒危的物种,还没有基因组水平的数据。在这项研究中,我们通过对来自 16 种哺乳动物个体的肝脏 RNA 进行测序,迈出了填补这一空白的第一步,这些物种包括人类和 11 种非人类灵长类动物。在非人类灵长类动物中,有 5 种是狐猴,2 种是懒猴,以前几乎没有或没有基因组数据。为了分析这些数据,我们开发了一种跨物种同源基因序列从头组装和比对的方法。我们为每个物种平均组装了 5721 条基因序列,并对基因序列和基因表达水平的多样性和分化进行了特征描述。我们确定了与正选择或定向选择作用一致的变异模式,包括在祖先灵长类谱系中受定向选择调控的基因中,过氧化物酶体基因的富集程度达到 18 倍。重要的是,我们没有发现遗传多样性与濒危状态之间的关系,在我们的研究中,两种最濒危的物种,黑白领狐猴和 Coquerel 的指猴,在所有灵长类动物中具有最高的遗传多样性。我们的观察结果表明,许多濒危的狐猴种群仍然具有相当大的遗传变异。因此,及时保护这些物种及其栖息地,具有实现长期成功的巨大潜力。