Department of Thoracic Surgery, Brigham and Women's Hospital, Boston MA, 02115, USA.
Department of Biology, San Francisco State University, San Francisco, CA 94117, USA.
Science. 2021 May 7;372(6542):592-600. doi: 10.1126/science.abg7019.
The mammalian sex chromosome system (XX female/XY male) is ancient and highly conserved. The sex chromosome karyotype of the creeping vole () represents a long-standing anomaly, with an X chromosome that is unpaired in females (X0) and exclusively maternally transmitted. We produced a highly contiguous male genome assembly, together with short-read genomes and transcriptomes for both sexes. We show that has lost an independently segregating Y chromosome and that the male-specific sex chromosome is a second X chromosome that is largely homologous to the maternally transmitted X. Both maternally inherited and male-specific sex chromosomes carry fragments of the ancestral Y chromosome. Consequences of this recently transformed sex chromosome system include Y-like degeneration and gene amplification on the male-specific X, expression of ancestral Y-linked genes in females, and X inactivation of the male-specific chromosome in male somatic cells. The genome of elucidates the processes that shape the gene content and dosage of mammalian sex chromosomes and exemplifies a rare case of plasticity in an ancient sex chromosome system.
哺乳动物的性染色体系统(XX 雌性/XY 雄性)是古老而高度保守的。攀缘鼠的性染色体核型代表了一个长期存在的异常现象,其雌性个体中存在一条未配对的 X 染色体(X0),并且该 X 染色体仅通过母系遗传。我们生成了一个高度连续的雄性基因组组装,以及两性的短读长基因组和转录组。我们表明,攀缘鼠已经失去了一个独立分离的 Y 染色体,而雄性特有的性染色体是第二条与母系遗传 X 染色体高度同源的 X 染色体。母系遗传和雄性特异性 X 染色体都携带了部分祖先 Y 染色体的片段。这个最近转化的性染色体系统的后果包括雄性特异性 X 染色体上的 Y 样退化和基因扩增、雌性中表达祖先 Y 连锁基因,以及雄性体细胞中雄性特异性 X 染色体的失活。攀缘鼠的基因组阐明了塑造哺乳动物性染色体基因内容和剂量的过程,并例证了古老性染色体系统中罕见的可塑性案例。