BCM HUMAN GENOME PROGRAM CENTER

人类的X染色体约占基因组的5%，即150Mb。 截至hGM 10，共有44个克隆基因，175个定位基因和疾病 和212个多态DNA标记(是人类中数量最多的 染色体)。对X染色体的深入研究主要与 半合子男性表现出的遗传性疾病的高发 以及它在性发育中的作用。使X 基因组分析的高度优先考虑的染色体包括：1)高度 在哺乳动物物种间的同源性(奥诺定律)，2)它受调控 雌性哺乳动物的失活和再激活(里昂假说)，3 它与Y染色体的部分同源性和它的独特特征 远端XP和YP之间的重组，以及4)HPRT的存在 基因，这使得X染色体服从于各种体细胞 使用正向选择或反向选择作图的遗传策略 轨迹。选择x染色体进行完整的作图和测序是 以医学院为基地的分子遗传学项目的逻辑一 (贝勒医学院)在医疗领域存在显著优势的地方 人类疾病的遗传学和分子遗传学基础。这所大学有 对拟议的人类基因组计划中心做出了坚定的承诺 奉献了5000多平方米。英国《金融时报》为其核心和研究提供更多空间 项目。以补充现有的人类分子遗传学核心 研究活动，我们正在为我们的中心增加基础研究专业知识 酵母遗传学用于载体开发，小鼠作图用于比较 研究，以及来自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。两个人 该中心最初五年筹资的主要目标是：1) 全X染色体YAC载体重叠群图谱的构建 5年和2)最多5年的测序技术开发 每年数以百万计的重叠群测序。

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.