Overlapping deletions spanning the proximal two-thirds of the mouse t complex
Overlapping deletions spanning the proximal two-thirds of the mouse t complex
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DOI：
10.1007/s00335-003-2298-4
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发表时间：
2003-12-01
期刊：
影响因子：
2.5
通讯作者：
Schimenti, JC
中科院分区：
文献类型：
--
作者：
Bergstrom, DE;Bergstrom, RA;Schimenti, JC
模式生物中的染色体缺失复合体是对复杂基因组进行功能和物理注释的有价值的遗传工具。在它们的许多作用中，缺失可以作为简单或数量性状基因座（QTL）的作图工具，区域诱变实验的遗传试剂，以及在小鼠的情况下，人类连续基因缺失综合征的模型。缺失也特别适合于鉴定含有单倍不足或印迹基因座的基因组区域。在这里，我们描述了创建新的缺失在近端的小鼠染色体（Chr）17通过使用ES细胞照射技术和广泛的分子表征这些和以前分离的缺失，总的来说，涵盖了大部分的小鼠t复合体。缺失排列在五个重叠的复合物中，这些复合物总共跨越约25 Mbp。此外，我们将每个缺失复合物与来自公共和私人小鼠基因组序列的物理数据以及我们自己的遗传数据进行了整合，以解决一些差异。这些缺失将是有用的表征与t复合体和t单倍型，包括传输比失真，男性不育，和收集的t单倍型胚胎致死突变的几种现象。缺失也将是有用的映射近端Chr 17上的其他感兴趣的基因座，包括T相关性逆转（Tas）和头倾斜（het）。迄今为止，新的缺失已被用于本地化最近确定的t haplolethal（Thl 1）基因座的约1.3-Mbp的间隔。
Chromosome deletion complexes in model organisms serve as valuable genetic tools for the functional and physical annotation of complex genomes. Among their many roles, deletions can serve as mapping tools for simple or quantitative trait loci (QTLs), genetic reagents for regional mutagenesis experiments, and, in the case of mice, models of human contiguous gene deletion syndromes. Deletions also are uniquely suited for identifying regions of the genome containing haploinsufficient or imprinted loci. Here we describe the creation of new deletions at the proximal end of mouse Chromosome (Chr) 17 by using the technique of ES cell irradiation and the extensive molecular characterization of these and previously isolated deletions that, in total, cover much of the mouse t complex. The deletions are arranged in five overlapping complexes that collectively span about 25 Mbp. Furthermore, we have integrated each of the deletion complexes with physical data from public and private mouse genome sequences, and our own genetic data, to resolve some discrepancies. These deletions will be useful for characterizing several phenomena related to the t complex and t haplotypes, including transmission ratio distortion, male infertility, and the collection of t haplotype embryonic lethal mutations. The deletions will also be useful for mapping other loci of interest on proximal Chr 17, including T-associated sex reversal (Tas) and head-tilt (het). The new deletions have thus far been used to localize the recently identified t haplolethal (Thl1) locus to an approximately 1.3-Mbp interval.