Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, UK.
Cell. 2012 Feb 17;148(4):780-91. doi: 10.1016/j.cell.2011.11.065.
The Tasmanian devil (Sarcophilus harrisii), the largest marsupial carnivore, is endangered due to a transmissible facial cancer spread by direct transfer of living cancer cells through biting. Here we describe the sequencing, assembly, and annotation of the Tasmanian devil genome and whole-genome sequences for two geographically distant subclones of the cancer. Genomic analysis suggests that the cancer first arose from a female Tasmanian devil and that the clone has subsequently genetically diverged during its spread across Tasmania. The devil cancer genome contains more than 17,000 somatic base substitution mutations and bears the imprint of a distinct mutational process. Genotyping of somatic mutations in 104 geographically and temporally distributed Tasmanian devil tumors reveals the pattern of evolution and spread of this parasitic clonal lineage, with evidence of a selective sweep in one geographical area and persistence of parallel lineages in other populations.
袋獾（Sarcophilus harrisii）是最大的有袋类食肉动物，由于一种可通过直接接触传播的传染性面部癌症而濒临灭绝，这种癌症通过咬噬在动物间传播。在这里，我们描述了袋獾基因组的测序、组装和注释，以及两种地理上相距较远的癌症亚克隆的全基因组序列。基因组分析表明，这种癌症最初起源于一只雌性袋獾，而且在其传播到塔斯马尼亚的过程中，该克隆已经发生了遗传分化。恶魔癌症基因组包含超过 17000 个体细胞碱基替换突变，并带有独特突变过程的印记。对 104 个地理位置和时间分布的袋獾肿瘤的体细胞突变进行基因分型，揭示了这种寄生克隆谱系的进化和传播模式，在一个地理区域存在选择清除的证据，而在其他种群中则存在平行谱系的持续存在。
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