Genomic Studies Mammalian Y Chromosomes

项目描述（由申请人提供）：本项目为期5年，目的是(1)启动并完成恒河猴、狨猴、大鼠、公牛和负鼠5个物种Y染色体的测序，(2)完成鸡W染色体的测序（目前测序量约为10%）。NHGRI已批准将这5条Y染色体和鸡W染色体作为靶点进行全面测序。新的Y染色体将被添加到我们当前的三个性染色体测序项目队列中，小鼠Y和鸡Z和W处于不同的完成阶段。我们的目标是在下一个5年资助期结束前完成所有8条染色体的序列和注释。在过去的18年里，基因组研究表明，Y染色体在生物学上比任何人预测的都更丰富，在医学上也更重要。这些基因组研究最近在完成并注释了人类和黑猩猩Y染色体序列后达到高潮，这是迄今为止唯一从任何物种，脊椎动物或无脊椎动物，植物或动物中测序的性别特异性染色体。对人类Y染色体序列的了解使研究人员能够识别和描述复发性Y染色体缺失，这是男性不育最常见的已知原因。黑猩猩的比较测序揭示了人类Y染色体上基因功能的重要性。我们怀疑NHGRI的六个优先排序目标——恒河猴、狨猴、大鼠、公牛、负鼠和鸡——的性别特异性染色体也将被证明具有巨大的生物医学价值。新Y染色体的序列将提供对人类Y染色体在健康和疾病中的作用的深入了解，并将为阐明哺乳动物和人类生殖细胞发育和精子产生提供必要的基础设施。鸡的W染色体将是第一个从任何物种中被测序的雌性特异性染色体。我们预计，W染色体的序列将通过提供对女性生育能力、卵子发生和性别决定的见解来告知我们对人类生物学的理解。

DESCRIPTION (provided by applicant): The aims of this 5-year project are to (1) initiate and complete the sequencing of the Y chromosomes of five species - rhesus macaque, marmoset, rat, bull, and opossum, and (2) complete the sequencing of the chicken W chromosome (currently ~10% sequenced). NHGRI has approved the targeting of these five Y chromosomes and the chicken W chromosome for full-scale sequencing. The new Y chromosomes will be added to our queue of three current sex chromosome sequencing projects, the mouse Y and the chicken Z and W, which are in various stages of completion. Our goal is to complete the sequence and annotation of all 8 chromosomes by the end of the next 5-year funding period. During the last 18 years, genomic studies have revealed that Y chromosomes are biologically richer and medically more important than anyone would have predicted. These genomic studies recently culminated in the finished and annotated sequences of the human and chimpanzee Y chromosomes, which are, to date, the only sex-specific chromosomes to have been sequenced from any species, vertebrate or invertebrate, plant or animal. Knowledge of the human Y chromosome sequence has allowed researchers to identify and characterize recurrent Y deletions, which have emerged as the most common of the known causes of infertility in men. Comparative sequencing in chimpanzee has shed light on the functional importance of genes on the human Y chromosome. We suspect that the sex-specific chromosomes of six of NHGRI's high-priority sequencing targets - rhesus, marmoset, rat, bull, opossum, and chicken - will also prove to be of great biomedical interest. The sequences of the new Y chromosomes will offer insight into the human Y chromosome's role in health and disease and will provide essential infrastructure for elucidating mammalian and human germ cell development and sperm production. The chicken W chromosome will be the first female-specific chromosome to be sequenced from any species. We anticipate that the sequence of the W chromosome will inform our understanding of human biology by offering insights into female fertility, oogenesis, and sex determination.