Klebig M L, Kwon B S, Rinchik E M
Biology Division, Oak Ridge National Laboratory, TN 37831-8077.
Mamm Genome. 1992;2(1):51-63. doi: 10.1007/BF00570440.
Complementation analyses of radiation-induced deletion mutations involving the albino (c) locus in Chromosome (Chr) 7 of the mouse have identified several loci, in addition to c, that have important roles in development. The "mesoderm-deficient" (msd) and "hepatocyte-specific developmental regulation-1" (hsdr-1) loci, which are proximal and tightly linked to c, are important in the formation of mesoderm and in the regulation of liver- and kidney-specific induction of various enzymes and proteins, respectively. Cloning deletion-breakpoint-fusion fragments caused by lethal albino deletions that genetically define the extents of the msd and hsdr-1 loci is one way of generating molecular probes for studying the gene(s) involved in these phenotypes. The distal breakpoints of five such deletions were positioned on a long-range (PFGE) map of approximately 1.7 Mb of wild-type DNA surrounding the c, D7Was12, and Emv-23 loci. In addition, the distal breakpoints of two viable albino deletions, which remove part of the tyrosinase gene and extend distally, were localized in the vicinity of the lethal deletion breakpoints. Therefore, the viable deletions can be exploited to generate additional DNA probes that should facilitate the isolation of breakpoint clones from chromosomes carrying lethal deletions defining hsdr-1 and msd.
对涉及小鼠7号染色体(Chr)上白化病(c)位点的辐射诱导缺失突变进行的互补分析,除了c位点外,还鉴定出了几个在发育中起重要作用的位点。与c位点近端紧密连锁的“中胚层缺陷”(msd)和“肝细胞特异性发育调控-1”(hsdr-1)位点,分别在中胚层形成以及肝脏和肾脏中各种酶和蛋白质的特异性诱导调控中发挥重要作用。克隆由致死性白化病缺失导致的缺失断点融合片段,这些片段从基因上定义了msd和hsdr-1位点的范围,这是生成用于研究涉及这些表型的基因的分子探针的一种方法。五个此类缺失的远端断点定位在围绕c、D7Was12和Emv-23位点的约1.7 Mb野生型DNA的长程(PFGE)图谱上。此外,两个可存活的白化病缺失的远端断点,它们去除了部分酪氨酸酶基因并向远端延伸,定位在致死性缺失断点附近。因此,可利用这些可存活的缺失来生成额外的DNA探针,这应该有助于从携带定义hsdr-1和msd的致死性缺失的染色体中分离断点克隆。