Perou C M, Moore K J, Nagle D L, Misumi D J, Woolf E A, McGrail S H, Holmgren L, Brody T H, Dussault B J, Monroe C A, Duyk G M, Pryor R J, Li L, Justice M J, Kaplan J
Department of Pathology, University of Utah School of Medicine, Salt Lake City 84132, USA.
Nat Genet. 1996 Jul;13(3):303-8. doi: 10.1038/ng0796-303.
The beige mutation is a murine autosomal recessive disorder, resulting in hypopigmentation, bleeding and immune cell dysfunction. The gene defective in beige is thought to be a homologue of the gene for the human disorder Chediak-Higashi syndrome. We have identified the murine beige gene by in vitro complementation and positional cloning, and confirmed its identification by defining mutations in two independent mutant alleles. The sequence of the beige gene message shows strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the Chediak-Higashi syndrome gene. The amino acid sequence of the Beige protein revealed a novel protein with significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae, Caenorhabditis elegans and humans.
米色突变是一种小鼠常染色体隐性疾病，会导致色素沉着不足、出血和免疫细胞功能障碍。米色基因缺陷被认为是人类切-东综合征相关基因的同源物。我们通过体外互补和定位克隆鉴定了小鼠米色基因，并通过确定两个独立突变等位基因中的突变来确认其身份。米色基因信息的序列与多个人类EST显示出很强的核苷酸同源性，其中一个或多个可能与切-东综合征基因相关。米色蛋白的氨基酸序列揭示了一种新型蛋白，与在酿酒酵母、秀丽隐杆线虫和人类中鉴定出的孤儿蛋白具有显著的氨基酸同源性。
