MAPPING AND SEQUENCING THE HUMAN Y CHROMOSOME

描述（改编自研究者摘要）：本项目 在人类基因组的背景下关注人类Y染色体 项目 该项目的主要长期目标已经完成 人类Y染色体的遗传内容的定义。 本 四年期提案有两个组成部分： 映射. Y染色体和人类基因组的其他区域一样， 由于高浓度， 染色体特异性重复序列 调查人员的目标是 * 制定强有力的方法，在下列区域生成STS和绘制物理地图： 富含染色体特异性重复序列的基因组。 他们 将这些方法应用于构建Y染色体的30-Mb 常染色质区，一个高度综合的物理地图， 这将是一组最小重叠的、经过验证的BAC克隆 适用于高效和系统的测序。 这张综合地图将 还包括1200个STS（平均间距为25 kb），辐射混合 图，以及基于天然存在的缺失的精细缺失图， 在人类个体中发现。 测序 研究人员的目标是启动大规模测序的 与NCHGR资助的测序小组合作， Whitehead/MIT基因组研究中心 的浓度 重复序列使Y染色体，像其他一些区域一样， 人类基因组，一个固有的困难测序目标。 调查人员 旨在为序列组装开发强大的、具有成本效益的解决方案， 困扰基因组重复序列丰富区域的序列整理问题， 并与测序小组合作， Y染色体常染色质区的四分之一序列（7.5 Mb）。 由此产生的图谱和序列信息将为以下方面提供框架： 阐明Y染色体在医学相关过程中的功能 如精子发生、肿瘤发生和胚胎发育一样多样。

DESCRIPTION (Adapted from the Investigator's Abstract): This project focuses on the human Y chromosome in the context of the Human Genome Project. The principal long-term goal of this project is complete definition of the genetic content of the human Y chromosome. The present four-year proposal has two components: Mapping. The Y chromosome, like some other regions of the human genome, is inherently difficult to map (and sequence) because of a high concentration of chromosome-specific repetitive sequences. The investigators aim to develop robust methods for STS generation and physical mapping in regions of the genome that are rich in chromosome-specific repetitive sequences. They will apply these methods in constructing, for the Y chromosome's 30-Mb euchromatic region, a highly integrated physical map, the focal point of which will be a set of minimally overlapping, fidelity-verified BAC clones suitable for efficient and systematic sequencing. This integrated map will also include 1200 STSs (at an average spacing of 25 kb), a radiation hybrid map, and a refined deletion map based on naturally occurring deletions as found in human individuals. Sequencing. The investigators aim to initiate large-scale sequencing of the euchromatic region in collaboration with the NCHGR-funded Sequencing Group at the Whitehead/MIT Center for Genome Research. The concentration of repetitive sequences makes the Y chromosome, like some other regions of the human genome, an inherently difficult sequencing target. The investigators aim to develop robust, cost-effective solutions for sequence assembly and sequence finishing problems that plague repeat-rich regions of the genome, and to collaborate with the Sequencing Group in determining the nucleotide sequence of one quarter of the Y chromosome's euchromatic region (7.5 Mb). The resulting map and sequence information will provide a framework for elucidating the function of the Y chromosome in medically relevant processes as diverse as spermatogenesis, tumorigenesis, and embryonic development.