Positional cloning of jcpk/bpk locus of the mouse
Positional cloning of jcpk/bpk locus of the mouse
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DOI：
10.1007/s00335-002-2241-0
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发表时间：
2003-04-01
期刊：
影响因子：
2.5
通讯作者：
Bryda, EC
中科院分区：
文献类型：
--
作者：
Cogswell, C;Price, SJ;Bryda, EC
通过位置克隆技术，我们已经确定了在多囊肾病jcpk和bpk小鼠模型中被破坏的基因。这个基因是果蝇双尾C基因的小鼠同源物。这两个突变都被定位在很短的一段染色体(Chr)10上。通过对这些模型中的双尾状C基因Bicc1进行测序，发现jcpk突变导致转录本缩短和异常，而bpk突变导致异常3‘编码区。在果蝇中，这种基因编码一种已知影响发育过程的蛋白质。哺乳动物同源基因含有三个KH(K同源)结构域和一个SAM(不育α基序)结构域，并在发育中的胚胎中表达，表明它在胚胎发生过程中可能在RNA结合和/或蛋白质相互作用中发挥重要作用。
By positional cloning techniques, we have identified the gene that is disrupted in the jcpk and bpk mouse models for polycystic kidney disease. This gene is the mouse homolog of the Drosophila Bicaudal C gene. Both of these mutations have been mapped to a very short stretch of Chromosome (Chr) 10. By sequencing the bicaudal C gene, Bicc1, in these models, it was found that the jcpk mutation results in a shortened and abnormal transcript, whereas the bpk mutation results in an abnormal 3' coding region. In Drosophila, this gene encodes a protein known to influence developmental processes. The mammalian homolog contains three KH (K homology) domains and a SAM (sterile alpha motif) domain and is expressed in the developing embryo, indicating that it may be important in RNA-binding and/or protein interactions during embryogenesis.