A physical map of the human Y chromosome
A physical map of the human Y chromosome
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DOI：
10.1038/35057170
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发表时间：
2001-02-15
期刊：
影响因子：
64.8
通讯作者：
Page, DC
中科院分区：
文献类型：
--
作者：
Tilford, CA;Kuroda-Kawaguchi, T;Page, DC
人类Y染色体的非重组区（NRY）占染色体的95%，不经历性重组，仅存在于男性中。通过对部分Y染色体个体的DNA研究，以及对涉及性腺性逆转、特纳综合征、移植排斥和生精失败的基因的分子表征，已经开始了解其生物学功能（1，2）。但是，在基因组其他地方成功应用的作图策略在NRY中却不稳定，那里没有减数分裂重组图，染色体内重复序列丰富（3）。在这里，我们报告了NRY的常染色质、着丝粒和异染色质区域的高分辨率物理图谱，以及通过不寻常的方法构建的图谱，包括基因组克隆扣除（4）和序列家族变异的解剖（5）。在该图谱的758个DNA标记中，有136个在NRY中有多个位置，反映了其异常重复的序列组成。标记物锚1,038个细菌人工染色体克隆，其中199个形成用于测序的平铺路径。
The non-recombining region of the human Y chromosome (NRY), which comprises 95% of the chromosome, does not undergo sexual recombination and is present only in males. An understanding of its biological functions has begun to emerge from DNA studies of individuals with partial Y chromosomes, coupled with molecular characterization of genes implicated in gonadal sex reversal, Turner syndrome, graft rejection and spermatogenic failure(1,2). But mapping strategies applied successfully elsewhere in the genome have faltered in the NRY, where there is no meiotic recombination map and intrachromosomal repetitive sequences are abundant(3). Here we report a high-resolution physical map of the euchromatic, centromeric and heterochromatic regions of the NRY and its construction by unusual methods, including genomic clone subtraction(4) and dissection of sequence family variants(5). Of the map's 758 DNA markers, 136 have multiple locations in the NRY, reflecting its unusually repetitive sequence composition. The markers anchor 1,038 bacterial artificial chromosome clones, 199 of which form a tiling path for sequencing.