Localization of the mouse kidney disease (kd) gene to a YAC/BAC contig on Chromosome 10
Localization of the mouse kidney disease (kd) gene to a YAC/BAC contig on Chromosome 10
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DOI：
10.1007/s003350010188
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发表时间：
2000-11-01
期刊：
影响因子：
2.5
通讯作者：
Gasser, DL
中科院分区：
文献类型：
--
作者：
Dell, KM;Li, YX;Gasser, DL
10号染色体上肾病（kd）基因纯合子的小鼠会自发发展为进行性和致命性的间质性肾炎。该疾病的表型与人类疾病少年肾病相似。通过回交和杂交育种策略以及对900多个后代的分析，该遗传位点现在已经定位到D10Mit 193和D10Mit 38之间大约2兆碱基的最小共分离区域。本研究分配给kd的位置距离当前小鼠基因组数据库位置超过3cm。在酵母人工染色体（YAC）和细菌人工染色体（BAC）上克隆了整个区间。重组分析允许将13个Mit微卫星标记分配到该区域附近或区域内的位置。利用测序的BBC末端单链构象多态性（SSCP）分析鉴定出两个新的标记。几个BAC末端序列与Chr 6q21中含有NR2E1、Snx3和Ros1的人类BAC克隆一致。据报道，三个小鼠基因CD24a、fyn和ColX位于本研究定义的kd区域或附近，并已被评估。虽然没有完全排除，但他们似乎不太可能成为候选人。
Mice that are homozygous for the kidney disease (kd) gene on Chromosome (Chr) 10 spontaneously develop a progressive and fatal interstitial nephritis. The disease phenotype is similar to that of the human disease, juvenile nephronophthisis. Using a backcross and intercross breeding strategy and analysis of over 900 resultant progeny, this genetic locus has now been mapped to a minimal co-segregating region of approximately two megabases between D10Mit 193 and D10Mit 38. The location assigned to kd by this study is over 3 cM from the current Mouse Genome Database location. The entire interval has been cloned in yeast artificial chromosome (YAC) and bacterial artificial chromosome (BAC) clones. Recombinant analysis has permitted assignment of 13 Mit microsatellite markers to positions near or within the region. Two new markers have been identified by using single-strand conformation polymorphism (SSCP) analysis of sequenced BBC ends. Several BAC end sequences align with human BAC clones from Chr 6q21 that contain NR2E1, Snx3, and Ros1. Three murine genes, CD24a, fyn, and ColX reported to map in or near the kd region as defined by this study have been evaluated. Though not definitely excluded, they appear to be unlikely candidates.