Wada T, Wakabayashi Y, Takahashi S, Ushiki T, Kikkawa Y, Yonekawa H, Kominami R
First Department of Biochemistry, Department of Otorhinolaryngology, Niigata University School of Medicine, Asahimachi 1-757, Niigata, 951-8510, Japan.
Biochem Biophys Res Commun. 2001 Apr 27;283(1):113-7. doi: 10.1006/bbrc.2001.4724.
A novel mouse model for human nonsyndromic hearing loss, Waltzer niigata (v(ngt)), is found and subjected to positional cloning analysis. Genome-wide scan of 1648 backcross mice maps v(ngt) to the D10Mit258 locus near Waltzer (v). Recombination breakpoints are positioned on a physical map consisting of 13 BACs relative to the flanking markers in the vicinity of v(ngt). Allelism test done in parallel shows that v(ngt) and v are allelic. Sequence analysis reveals one-base deletion in the cDNA encoding a cadherin-related protein, Cdh23, mutation of which is recently reported in v mutants. The frame-shift change, producing a truncated protein of 51 amino acids, is ascribed to a base-substitution of G to A in the acceptor site of splicing junction which is predicted to cause one-base shift of the splicing position.
一种用于人类非综合征性听力损失的新型小鼠模型——华尔兹新潟（v(ngt)）被发现并进行了定位克隆分析。对1648只回交小鼠进行全基因组扫描，将v(ngt)定位到华尔兹（v）附近的D10Mit258位点。重组断点位于由13个细菌人工染色体（BAC）组成的物理图谱上，相对于v(ngt)附近的侧翼标记。同时进行的等位性测试表明v(ngt)和v是等位基因。序列分析揭示了编码一种钙黏蛋白相关蛋白Cdh23的cDNA中有一个碱基缺失，最近在v突变体中报道了该蛋白的突变。移码变化产生了一个51个氨基酸的截短蛋白，这归因于剪接连接接受位点中从G到A的碱基替换，预计这会导致剪接位置发生一个碱基的偏移。
