Feder J N, Li L, Jan L Y, Jan Y N
Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.
Genomics. 1994 Mar 1;20(1):56-61. doi: 10.1006/geno.1994.1126.
The Drosophila hairy gene encodes a basic helix-loop-helix protein that functions in at least two steps during Drosophila development: (1) during embryogenesis, when it partakes in the establishment of segments, and (2) during the larval stage, when it functions negatively in determining the pattern of sensory bristles on the adult fly. In the rat, a structurally homologous gene (RHL) behaves as an immediate-early gene in its response to growth factors and can, like that in Drosophila, suppress neuronal differentiation events. Here, we report the genomic cloning of the human hairy gene homolog (HRY). The coding region of the gene is contained within four exons. The predicted amino acid sequence reveals only four amino acid differences between the human and rat genes. Analysis of the DNA sequence 5' to the coding region reveals a putative untranslated exon. To increase the value of the HRY gene as a genetic marker and to assess its potential involvement in genetic disorders, we sublocalized the locus to chromosome 3q28-q29 by fluorescence in situ hybridization.
果蝇的hairy基因编码一种碱性螺旋-环-螺旋蛋白,该蛋白在果蝇发育过程中至少发挥两个作用:(1)在胚胎发生期间,参与体节的形成;(2)在幼虫阶段,对成年果蝇感觉刚毛模式的确定起负调控作用。在大鼠中,一个结构同源基因(RHL)在对生长因子的反应中表现为即刻早期基因,并且与果蝇中的基因一样,能够抑制神经元分化事件。在此,我们报道了人类hairy基因同源物(HRY)的基因组克隆。该基因的编码区包含在四个外显子中。预测的氨基酸序列显示,人类和大鼠基因之间仅存在四个氨基酸差异。对编码区5'端DNA序列的分析揭示了一个推定的非翻译外显子。为了提高HRY基因作为遗传标记的价值,并评估其在遗传疾病中的潜在作用,我们通过荧光原位杂交将该基因座定位于染色体3q28-q29。