A physical map of human chromosome 7: An integrated YAC contig map with average STS spacing of 79 kb
A physical map of human chromosome 7: An integrated YAC contig map with average STS spacing of 79 kb
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DOI：
10.1101/gr.7.7.673
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发表时间：
1997-07-01
期刊：
影响因子：
7
通讯作者：
Green, ED
中科院分区：
文献类型：
--
作者：
Bouffard, GG;Idol, JR;Green, ED
构建高度整合和注释的人类染色体物理图谱是正在进行的人类基因组计划的关键目标。我们的实验室专注于开发人类7号染色体的物理图谱，这是一个类似于170 Mb的DNA片段，相当于人类基因组的5%。使用酵母人工染色体（YAC）为基础的序列标记位点（STS）的内容映射策略，2150染色体7特异性STS已建立和映射到一个集合的YAC高度富集的染色体7 DNA。STS对应于从各种DNA来源产生的序列，特别强调YAC插入末端、遗传标记和基因。YAC包括来自人-仓鼠杂交细胞系的一组相对非嵌合的克隆以及从总基因组文库分离的克隆。对于地图整合，我们已经定位了260个STS对应于Genethon遗传标记和259个STS对应于标记排序的辐射杂交（RH）映射在我们的YAC重叠群。用程序SEGMAP分析数据，得到在Genethon遗传图谱、RH图谱和/或细胞遗传图谱上“锚定"的22个重叠群的组装。这22个重叠群相对于彼此排序，（除了3种情况之外）相对于着丝粒和端粒定向，并且包含>98%的映射STS。最大的锚定YAC重叠群，占7 p的大部分，包含634个STS和1260个YAC。另外14个重叠群，占映射的STS的1.5%，被组装，但在遗传或RH图上保持未锚定。因此，这14个“孤儿"重叠群相对于其他重叠群没有排序。在我们的重叠群图谱中，在>95%的情况下，相邻的STS由两个或更多个YAC连接。与2150映射STS，我们的地图提供了一个平均STS间距类似于79 kb。我们在这里报告的物理地图超过了100 kb的平均STS间距的目标，应该提供一个很好的框架，染色体的系统测序。
The construction of highly integrated and annotated physical maps of human chromosomes represents a critical goal of the ongoing Human Genome Project. Our laboratory has focused on developing a physical map of human chromosome 7, a similar to 170-Mb segment of DNA that corresponds to an estimated 5% of the human genome. Using a yeast artificial chromosome (YAC)-based sequence-tagged site (STS)-content mapping strategy, 2150 chromosome 7-specific STSs have been established and mapped to a collection of YACs highly enriched for chromosome 7 DNA. The STSs correspond to sequences generated from a variety of DNA sources, with particular emphasis placed on YAC insert ends, genetic markers, and genes. The YACs include a set of relatively nonchimeric clones from a human-hamster hybrid cell line as well as clones isolated from total genomic libraries. For map integration, we have localized 260 STSs corresponding to Genethon genetic markers and 259 STSs corresponding to markers ordered by radiation hybrid (RH) mapping on our YAC contigs. Analysis of the data with the program SEGMAP results in the assembly of 22 contigs that are ''anchored'' on the Genethon genetic map, the RH map, and/or the cytogenetic map. These 22 contigs are ordered relative to one another, are (in all but 3 cases) oriented relative to the centromere and telomeres, and contain >98% of the mapped STSs. The largest anchored YAC contig, accounting for most of 7p, contains 634 STSs and 1260 YACs. An additional 14 contigs, accounting for similar to 1.5% of the mapped STSs, are assembled but remain unanchored on either the genetic or RH map. Therefore, these 14 ''orphan'' contigs are not ordered relative to other contigs. In our contig maps, adjacent STSs are connected by two or more YACs in >95% of cases. With 2150 mapped STSs, our map provides an average STS spacing of similar to 79 kb. The physical map we report here exceeds the goal of 100-kb average STS spacing and should provide an excellent framework for systematic sequencing of the chromosome.