Genetic Mapping Of Mouse Chromosomal Genes

小鼠已被用作基因组分析的模式哺乳动物系统。我们一直致力于通过分析来自种间或亚种间交配的几个多位点杂交来开发小鼠的高密度遗传图谱。这些小鼠的DNA已经被分型了1200多个基因座，其中大约一半是新的，其中大多数是表达的基因，而不是匿名的DNA片段。这种对表达基因的重视允许与其他物种的图谱进行比较分析，并有助于识别与遗传性发育障碍有关的基因。最近，这些研究导致了编码新的同源异型盒基因、连接蛋白和甲基转移酶的基因图谱。我们与D.Farber合作，使用正常和无光感受器突变体，通过消减杂交分离出一系列cDNA。其中一个cDNA被定位在视网膜退化-7基因附近。对正常小鼠和RD7小鼠的基因分析发现，突变小鼠的基因缺失导致蛋白质被截断，并建立了这种发育异常的遗传基础。

The mouse has been used as the model mammalian system for genome analysis. We have been engaged in the development of a high density genetic map of the mouse by analysis of several multilocus crosses derived from interspecies or intersubspecies matings. DNAs from these mice have been typed for over 1200 loci, about half of which are novel and most of which are expressed genes rather than anonymous DNA fragments. This emphasis on expressed genes permits comparative analysis with the maps of other species and contributes to efforts to identify genes involved in inherited developmental disorders. These studies have, most recently, resulted in the genetic mapping of genes encoding new homeobox genes, connexins, and a methyltransferase. We collaborated with D. FArber to map a series of cDNAs isolated by subtractive hybridization using normal and photoreceptorless mutants. One of these cDNAs was mapped near the gene, retinal degeneration-7. Analysis of the gene in normal and rd7 mice identified a deletion in the mutant mice resulting in a truncated protein and established the genetic basis for this developmental abnormality.