小鼠17号染色体近端：新的分子标记鉴定出与震颤存活相关的缺失。
The proximal end of mouse chromosome 17: new molecular markers identify a deletion associated with quakingviable.
作者信息
Ebersole T, Rho O, Artzt K
机构信息
Department of Zoology, University of Texas, Austin 78712-1064.
出版信息
Genetics. 1992 May;131(1):183-90. doi: 10.1093/genetics/131.1.183.
Abstract
Five randomly identified cosmids have been mapped proximal to the Leh66D locus on mouse chromosome 17. Two of these cosmids, Au10 and Au119, map near the neurological mutation quaking. Au119 is deleted in qkviable/qkviable DNA, whereas Au10 is not. Au76 maps to a gene-rich region near the Time locus. The Au76 locus encodes a member of a low copy gene family expressed in embryos, the adult central nervous system and testis. A second member of this family has been mapped to chromosome 15 near c-sis (PDGF-B). At the centromeric end of chromosome 17, Au116 maps near the Tu1 locus, and along with Au217rs identifies a region of unusually high recombinational activity between t-haplotypes and wild-type chromosomes. Au217I and II map to the large inverted repeats found at the proximal end of the wild-type chromosome. In addition, the Au217I and/or II loci encode testis transcripts not expressed from t-haplotypes.
摘要
五个随机鉴定的黏粒已被定位在小鼠17号染色体上Leh66D位点的近端。其中两个黏粒，Au10和Au119，定位在神经学突变颤抖（quaking）附近。在qkviable/qkviable DNA中Au119被缺失，而Au10没有。Au76定位到Time位点附近的一个基因丰富区域。Au76位点编码一个在胚胎、成年中枢神经系统和睾丸中表达的低拷贝基因家族的成员。这个家族的另一个成员已被定位到15号染色体上靠近c-sis（血小板衍生生长因子B，PDGF-B）的位置。在17号染色体的着丝粒末端，Au116定位在Tu1位点附近，并且与Au217rs一起确定了t单倍型和野生型染色体之间一个重组活性异常高的区域。Au217I和II定位到野生型染色体近端发现的大的反向重复序列处。此外，Au217I和/或II位点编码t单倍型不表达的睾丸转录本。
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