Nehls M, Pfeifer D, Schorpp M, Hedrich H, Boehm T
Department of Medicine I, University of Freiburg, Germany.
Nature. 1994 Nov 3;372(6501):103-7. doi: 10.1038/372103a0.
Mutations at the nude locus of mice and rats disrupt normal hair growth and thymus development, causing nude mice and rats to be immune-deficient. The mouse nude locus has been localized on chromosome 11 (refs 3, 4) within a region of < 1 megabase. Here we show that one of the genes from this critical region, designated whn, encodes a new member of the winged-helix domain family of transcription factors, and that it is disrupted on mouse nu and rat rnuN alleles. Mutant transcripts do not encode the characteristic DNA-binding domain, strongly suggesting that the whn gene is the nude gene. Mutations in winged-helix domain genes cause homeotic transformations in Drosophila and distort cell-fate decisions during vulval development in Caenorhabditis elegans. The whn gene is thus the first member of this class of genes to be implicated in a specific developmental defect in vertebrates.
小鼠和大鼠裸基因座的突变会破坏正常的毛发生长和胸腺发育,导致裸鼠和裸大鼠免疫缺陷。小鼠裸基因座已定位在11号染色体上(参考文献3、4),位于一个小于1兆碱基的区域内。我们在此表明,来自这个关键区域的一个基因,命名为whn,编码转录因子有翼螺旋结构域家族的一个新成员,并且它在小鼠nu和大鼠rnuN等位基因上发生了破坏。突变转录本不编码特征性的DNA结合结构域,强烈表明whn基因就是裸基因。有翼螺旋结构域基因的突变在果蝇中会导致同源异型转化,并在秀丽隐杆线虫的外阴发育过程中扭曲细胞命运决定。因此,whn基因是这类基因中第一个与脊椎动物特定发育缺陷有关的成员。