Pennsylvania State University, University Park, PA 16802, USA.
Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12348-53. doi: 10.1073/pnas.1102838108. Epub 2011 Jun 27.
The Tasmanian devil (Sarcophilus harrisii) is threatened with extinction because of a contagious cancer known as Devil Facial Tumor Disease. The inability to mount an immune response and to reject these tumors might be caused by a lack of genetic diversity within a dwindling population. Here we report a whole-genome analysis of two animals originating from extreme northwest and southeast Tasmania, the maximal geographic spread, together with the genome from a tumor taken from one of them. A 3.3-Gb de novo assembly of the sequence data from two complementary next-generation sequencing platforms was used to identify 1 million polymorphic genomic positions, roughly one-quarter of the number observed between two genetically distant human genomes. Analysis of 14 complete mitochondrial genomes from current and museum specimens, as well as mitochondrial and nuclear SNP markers in 175 animals, suggests that the observed low genetic diversity in today's population preceded the Devil Facial Tumor Disease disease outbreak by at least 100 y. Using a genetically characterized breeding stock based on the genome sequence will enable preservation of the extant genetic diversity in future Tasmanian devil populations.
塔斯马尼亚恶魔（Sarcophilus harrisii）因一种名为恶魔面部肿瘤疾病的传染性癌症而面临灭绝威胁。由于种群数量减少导致遗传多样性缺乏，无法产生免疫反应并排斥这些肿瘤。在这里，我们报告了来自塔斯马尼亚州最西北和最东南的两个动物的全基因组分析，这是最大的地理分布范围，以及从其中一个动物身上采集的肿瘤的基因组。使用来自两个互补下一代测序平台的序列数据的 3.3-Gb 从头组装来识别 100 万个多态基因组位置，大致是两个遗传距离较远的人类基因组之间观察到的数量的四分之一。对来自当前和博物馆标本的 14 个完整线粒体基因组以及 175 个动物中的线粒体和核 SNP 标记的分析表明，今天种群中观察到的低遗传多样性至少在恶魔面部肿瘤疾病爆发前 100 年就已经存在。使用基于基因组序列的遗传特征化繁殖种群将能够在未来的塔斯马尼亚恶魔种群中保存现有的遗传多样性。
