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泌尿生殖系统综合征(US):小鼠2号染色体上的一种发育突变。

Urogenital syndrome (us): a developmental mutation on chromosome 2 of the mouse.

作者信息

Lane P W, Birkenmeier C S

机构信息

Jackson Laboratory, Bar Harbor, Maine 04609.

出版信息

Mamm Genome. 1993 Sep;4(9):481-4. doi: 10.1007/BF00364781.

Abstract

Urogenital syndrome (us) is a recessive mutation in mice characterized primarily by abnormalities of the axial skeleton and urogenital organs. We established linkage of us with the centromeric end of Chromosome (Chr) 2, using the Robertsonian Chr Rb(2.8)2Lub. Analysis of progeny from crosses using the Chr 2 markers Danforth's short tail (Sd) and ulnaless (Ul) positioned us near two loci that have recently been mapped by RFLPs, nonerythroid alpha-spectrin (Spna-2) and the paired-box-containing-gene-8 (Pax-8). The position of us relative to these loci was established by analysis of progeny from interspecific backcrosses between the us strains and Mus spretus. The estimated map distances and most likely gene order are centromere-Pax-8-2.1 +/- 1.2-us-0.7 +/- 0.7-Spna-2; however, the reverse order cannot be ruled out. Our data make it unlikely that us is a mutation in either Spna-2 or Pax-8. Spna-2 is close enough to us, however, to be a useful marker for positional cloning of the us gene. The human mutation Nail-patella-syndrome (NPS1) maps to the region of human Chr 9 (9q34) that is homologous to the us region of mouse Chr 2. Phenotypic similarities between the two syndromes suggest the possibility that they are caused by mutations at homologous loci.

摘要

泌尿生殖系统综合征(us)是小鼠中的一种隐性突变,主要特征为轴向骨骼和泌尿生殖器官异常。我们利用罗伯逊易位染色体Rb(2.8)2Lub,将us与2号染色体(Chr)的着丝粒端建立了连锁关系。使用2号染色体标记丹福斯短尾(Sd)和无尺骨(Ul)对杂交后代进行分析,将us定位在最近通过限制性片段长度多态性(RFLP)定位的两个基因座附近,即非红细胞α-血影蛋白(Spna-2)和含配对盒基因8(Pax-8)。通过分析us品系与斯氏小家鼠之间种间回交的后代,确定了us相对于这些基因座的位置。估计的图谱距离和最可能的基因顺序是着丝粒-Pax-8-2.1±1.2-us-0.7±0.7-Spna-2;然而,不能排除相反的顺序。我们的数据表明us不太可能是Spna-2或Pax-8中的突变。不过,Spna-2与us距离足够近,可作为us基因定位克隆的有用标记。人类突变指甲-髌骨综合征(NPS1)定位于人类9号染色体(9q34)上与小鼠2号染色体us区域同源的区域。两种综合征之间的表型相似性表明它们可能由同源基因座的突变引起。

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