Genomic studies of sex chromosomes

这个为期3年的项目主要研究小鼠和黑猩猩的Y染色体以及鸡的Z和W染色体 NHGRI的目标是对这些动物的基因组进行测序。我们建议 (1)完成小鼠和黑猩猩Y染色体的绘图/测序（目前各占50%）。 （2）完成鸡Z染色体的定位/测序（目前已测序30%） 和（3）映射/测序50%的鸡W（目前1%测序），作为6年目标的一部分，以完成 这个染色体 在过去的15年里，基因组研究表明，人类Y染色体在生物学上更丰富， 在医学上比任何人想象的都重要这些基因组研究最近 最终完成并注释了人类Y染色体的序列。到目前为止，人类的Y是 唯一的性别特异性染色体已被测序的任何物种，脊椎动物或无脊椎动物，植物 或动物。其序列的知识使研究人员能够识别和表征复发性Y 基因缺失是男性不育的最常见原因。 我们希望NGHRI的三个高优先级测序目标-小鼠-的性别特异性染色体 (XX雌性/XY雄性），黑猩猩（XX/YY）和鸡（ZW雌性/ZZ雄性）-也将被证明是 对生物医学很感兴趣老鼠和黑猩猩的Y只代表第二个和第三个Y 染色体进行测序我们预计，这些Y染色体的序列将提供新的 深入了解人类Y在健康和疾病中的作用，并将为阐明 哺乳动物和人类生殖细胞发育和精子发生。鸡的Z和W染色体 将是第一个由雌性而不是雄性决定性别的物种的性染色体测序， 特定染色体我们预计，Z和W的序列将告知我们对 人类生物学通过提供对脊椎动物生殖细胞发育，卵子发生和性别决定的见解。

This 3-year project focuses on the mouse and chimpanzee Y chromosomes and the chicken Z and W chromosomes, in the context of NHGRI's goals to sequence the genomes of these animals. We propose to (1) complete the mapping/sequencing of the mouse and chimpanzee Y chromosomes (each currently 50% sequenced) (2) complete the mapping/sequencing of the chicken Z chromosome (currently 30% sequenced) and (3) map/sequence 50% of the chicken W (currently 1% sequenced) as part of a 6-year goal to complete this chromosome. During the last 15 years, genomic studies have revealed that the human Y chromosome is biologically richer and medically more important than anyone would have predicted. These genomic studies recently culminated in a finished and annotated sequence of the human Y chromosome. To date, the human Y is the only sex-specific chromosome to have been sequenced from any species, vertebrate or invertebrate, plant or animal. Knowledge of its sequence allowed researchers to identify and characterize recurrent Y deletions, which have emerged as the most common of the known causes of infertility in men. We expect that the sex-specific chromosomes of three of NGHRI's high-priority sequencing targets - mouse (XX female/XY male), chimpanzee (XX/YY), and chicken (ZWfemale/ZZ male) - will also prove to beof great biomedical interest. The mouse and chimpanzee Ys will represent only the second and third Y chromosomes to be sequenced. We anticipate that the sequences of these Y chromosomes will offer new insight into the human Y's roles in health and disease and will provide essential infrastructure for elucidating mammalian and human germ cell development and spermatogenesis. The chicken Z and W chromosomes will be the first sequenced sex chromosomes from a species in which females, not males, bear the sex- specific chromosome. We anticipate that the sequences of the Z and W will inform our understanding of human biology by offering insights into vertebrate germ cell development, oogenesis, and sex determination.