基于酵母人工染色体/细菌人工染色体的围绕轴索性肌萎缩（gad）基因座的物理和转录图谱鉴定出Uchl1、Pmx2b、Atp3a2和Hip2基因。

YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes.

作者信息

Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S, Wada K

机构信息

Department of Degenerative Neurological Diseases, National Institute of Neuroscience, Kodaira, 187-8502, Japan.

出版信息

Genomics. 2000 Jun 15;66(3):333-6. doi: 10.1006/geno.2000.6221.

DOI:10.1006/geno.2000.6221

PMID:10873389

Abstract

We generated a yeast artificial chromosome (YAC)/bacterial artificial chromosome (BAC)-based physical and transcript map of a region containing the gracile axonal dystrophy (gad) locus on mouse chromosome 5. The YAC/BAC contig consists of 13 YAC and 49 BAC clones onto which 4 genes, 40 expressed sequence tags, and 7 new DNA polymorphisms were ordered. Using this physical map, we mapped Uchl1 encoding ubiquitin carboxyl-terminal hydrolase I, whose deletion has been determined to cause the gad mutation. We also mapped three other recently identified genes: Hip2, encoding Huntingtin interacting protein 2; Atp3a2, encoding a P-type ATPase; and Pmx2b, encoding PHOX2b.

摘要

我们构建了基于酵母人工染色体（YAC）/细菌人工染色体（BAC）的物理图谱和转录图谱，该区域位于小鼠5号染色体上，包含薄束轴索性营养不良（gad）基因座。YAC/BAC重叠群由13个YAC和49个BAC克隆组成，在这些克隆上排列了4个基因、40个表达序列标签和7个新的DNA多态性位点。利用这一物理图谱，我们定位了编码泛素羧基末端水解酶I的Uchl1基因，其缺失已被确定会导致gad突变。我们还定位了另外三个最近鉴定出的基因：编码亨廷顿相互作用蛋白2的Hip2；编码P型ATP酶的Atp3a2；以及编码PHOX2b的Pmx2b。