Ohtani Shin, Shinkai Yusuke, Horibe Akio, Katayama Kentaro, Tsuji Takehito, Matsushima Yoshibumi, Tachibana Masayoshi, Kunieda Tetsuo
Graduate School of Natural Science and Technology, Okayama University, Okayama, Japan.
Exp Anim. 2006 Oct;55(5):491-5. doi: 10.1538/expanim.55.491.
The WS4 mouse is an animal model for human Waardenburg syndrome type 4 (WS4), showing pigmentation anomalies, deafness and megacolon, which are caused by defects of neural crest-derived cells. We have previously reported that the gene responsible for the WS4 mouse is an allele of the piebald mutations of the endothelin B receptor gene (Ednrb). In this study, we examined the genomic sequence of the Ednrb gene in WS4 mice and found a 598-bp deletion in the gene. The deleted region contains the entire region of exon 2 and the 5' part of exon 3 and is flanked by inverted repeat sequences which are suggested to trigger the deletion. We concluded that the deletion in the Ednrb gene is the causative mutation for the phenotype of WS4 mice.
WS4小鼠是人类4型瓦登伯革氏综合征（WS4）的动物模型，表现出色素沉着异常、耳聋和巨结肠，这些是由神经嵴衍生细胞的缺陷引起的。我们之前报道过，导致WS4小鼠发病的基因是内皮素B受体基因（Ednrb）花斑突变的一个等位基因。在本研究中，我们检测了WS4小鼠中Ednrb基因的基因组序列，发现该基因存在一个598 bp的缺失。缺失区域包含外显子2的整个区域和外显子3的5'部分，两侧是反向重复序列，推测这些序列引发了缺失。我们得出结论，Ednrb基因的缺失是WS4小鼠表型的致病突变。
