BCM HUMAN GENOME PROGRAM CENTER

人类的X染色体约占基因组的5%或150 Mb。 截至HGM 10，有44个克隆基因，175个定位基因和疾病 基因座，和212个多态性DNA标记（最大数量的任何人类 染色体）。 对X染色体的深入研究主要涉及 半合子男性的高频率遗传疾病 及其在性发育中的作用。 使X 染色体对基因组分析的高度优先包括：1）其高度 哺乳动物物种之间的同源性（Ohno定律），2）其调节 雌性哺乳动物的失活和再活化（里昂假说），3） 它与Y染色体的部分同源性以及 远端Xp和Yp之间的重组，以及4）HPRT的存在 一种使X染色体适合于各种体细胞的基因 遗传策略的映射使用正向或反向选择在这个 基因座 选择x染色体进行完整的定位和测序是 对于一所医学院的分子遗传学项目来说， 贝勒医学院（Baylor College of Medicine），在医学领域具有显著优势 遗传学和人类疾病的分子遗传学基础。 学院拥有 对拟议中的人类基因组计划中心做出了坚定的承诺， 占地面积5000多平方米英尺为它的核心和研究提供额外的空间 项目 以补充现有的人类分子遗传学的核心 研究活动，我们正在增加我们的中心基础研究专长， 酵母遗传学用于载体开发，小鼠作图用于比较 研究，以及贝勒和赖斯的大量计算专业知识 大学解决数据汇编和分析的问题。 两 该中心前五年的主要目标是：1） 在2- 100个染色体中的整个X染色体的YAC载体重叠群图的开发 5年和2）测序技术的发展，能够高达5 每年进行数百万次的重叠群测序。

The X chromosome of man comprises approximately 5% of the genome or 150 Mb. As of HGM 10, there were 44 cloned genes, 175 mapped genes and disease loci, and 212 polymorphic DNA markers (the largest number of any human chromosome). Intense investigation of the X chromosome relates primarily to the high frequency of genetic diseases manifested by hemizygous males and its role in sex development. Additional features which make the X chromosome a high priority for genome analysis include: 1) its high degree of homology across mammalian species (Ohno's law), 2) its regulated inactivation and reactivation in mammalian females (Lyon hypothesis), 3) its partial homology with the Y chromosome and the unique features of recombination between distal Xp and Yp, and 4) the presence of the HPRT gene, which makes the X chromosome amenable to a variety of somatic cell genetic strategies for mapping using forward or back selection at this locus. Choice of the x chromosome for complete mapping and sequencing is logical one for a molecular genetics program based in a medical school (Baylor College of Medicine) where significant strengths exist in medical genetics and molecular genetic basis of human disease. The college has made a strong commitment to the proposed Human Genome Program Center by dedicating over 5000 sq. ft. of additional space to its cores and research projects. To complement the existing nucleus of human molecular genetics research activity, we are adding to our Center basic research expertise in yeast genetics for vector development, mouse mapping for comparative studies, and a substantial computational expertise from Baylor and Rice University to address problems of data assembly and analysis. The two primary goals of the Center for the first five years of funding are: 1) Development of a YAC vector contig map of the entire X-chromosome within 2- 5 years and 2) development of sequencing technology capable of up to 5 megabases of contig sequencing annually.