A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice.
A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice.
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DOI：
10.1538/expanim.55.491
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发表时间：
2006-10
影响因子：
2.4
通讯作者：
S. Ohtani;Y. Shinkai;Akio Horibe;K. Katayama;T. Tsuji;Y. Matsushima;M. Tachibana;T. Kunieda
中科院分区：
文献类型：
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作者：
S. Ohtani;Y. Shinkai;Akio Horibe;K. Katayama;T. Tsuji;Y. Matsushima;M. Tachibana;T. Kunieda
WS4小鼠是人类Waardenburg综合征4型(WS4)的动物模型，表现为色素异常、耳聋和巨结肠，这些症状是由神经脊来源的细胞缺陷引起的。我们此前曾报道，导致WS4小鼠的基因是内皮素B受体基因(EDNRB)花斑状突变的等位基因。在这项研究中，我们检测了WS4小鼠的EDNRB基因的基因组序列，发现该基因有598个碱基的缺失。缺失的区域包含外显子2的整个区域和外显子3的5‘部分，侧翼是建议触发缺失的反向重复序列。我们的结论是EDNRB基因的缺失是WS4小鼠表型的致病突变。
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.