Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci.
Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci.
复制标题
辐射诱导的小鼠 2 号染色体结构重排导致肢体畸形和刺鼠基因座突变的分子和遗传特征。
DOI：
10.1073/pnas.87.7.2588
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发表时间：
1990
影响因子：
11.1
通讯作者：
Rutledge,JC
中科院分区：
文献类型：
--
作者：
Woychik,RP;Generoso,WM;Russell,LB;Cain,KT;Cacheiro,NL;Bultman,SJ;Selby,PB;Dickinson,ME;Hogan,BL;Rutledge,JC
小鼠突变的分子表征，特别是那些涉及药物诱导的主要结构改变，被证明是有用的相关的结构和表达的个别基因与它们在整个生物体中的功能。在这里，我们提出了辐射诱导的突变，同时产生不同的等位基因的肢体畸形（ld）和agglutinin（a）基因座，两个发育重要的区域2号染色体通常由20厘摩分开的特点。细胞遗传学分析显示，17号染色体（17 B-17 C;或可能，17 A2 - 17 B）的间质片段已易位到2号染色体的远端，导致比正常染色体小的17号染色体（命名为17 del）和较大形式的2号染色体（命名为2（17）。此外，2（17）号染色体的一个大的间隙片段，紧邻和接近插入位点，与正常2号染色体上相应位置的条带2 E4 - 2 H1不匹配。分子分析检测到DNA重排，其中ld基因座的一部分连接到通常与a基因座紧密相连的序列。这一结果沿着遗传学和细胞遗传学数据表明，在这一辐射诱发突变中的ld和a等位基因（命名为ldIn 2和ajIn 2）与2（17）号染色体中一个间质片段倒位引起的DNA断裂有关。
Molecular characterization of mutations in the mouse, particularly those involving agent-induced major structural alterations, is proving to be useful for correlating the structure and expression of individual genes with their function in the whole organism. Here we present the characterization of a radiation-induced mutation that simultaneously generated distinct alleles of both the limb deformity (ld) and agouti (a) loci, two developmentally important regions of chromosome 2 normally separated by 20 centimorgans. Cytogenetic analysis revealed that an interstitial segment of chromosome 17 (17B- 17C; or, possibly, 17A2-17B) had been translocated into the distal end of chromosome 2, resulting in a smaller-than-normal chromosome 17 (designated 17del) and a larger form of chromosome 2 (designated 2(17). Additionally, a large interstitial segment of the 2(17) chromosome, immediately adjacent and proximal to the insertion site, did not match bands 2E4-2H1 at corresponding positions on a normal chromosome 2. Molecular analysis detected a DNA rearrangement in which a portion of the ld locus was joined to sequences normally tightly linked to the a locus. This result, along with the genetic and cytogenetic data, suggests that the alleles of ld and a in this radiation-induced mutation, designated ldIn2 and ajIn2, were associated with DNA breaks caused by an inversion of an interstitial segment in the 2(17) chromosome.