Kamei M, Webb G C, Young I G, Campbell H D
Molecular Genetics and Evolution Group, Australian National University, Canberra, Australia.
Genomics. 1998 Jul 15;51(2):197-206. doi: 10.1006/geno.1998.5395.
Mutations in the Drosophila melanogaster small optic lobes (sol) gene cause a sever reduction in the neuropiles of the medulla and lobula complexes of the adult optic lobes. The predicted protein product of sol contains zinc-finger-like repeats, a calpain-like protease domain, and a C-terminal region of unknown function. We have isolated human brain cDNA for SOLH, a human homologue of sol. The human SOLH gene consists of 14 exons distributed over more than 45 kb of genomic DNA. The encoded SOLH protein of 1086 amino acids has strong similarity to the D. melanogaster protein. The calpain-like domain and C-terminal region are highly conserved (58% identity), and similar Cys2-Cys2 zinc fingers are present in the N-terminal region. A reported Caenorhabditis elegans homologue contains the calpain domain and C-terminal region, but appears to lack the zinc finger region. A single copy of the zinc finger sequence is present in adjacent C. elegans genomic cosmid DNA sequence, and we show that it is part of the C. elegans sol-like transcript. Northern analysis of human tissues revealed a SOLH transcript of approximately 5 kb that was strongest in human brain. We have mapped the SOLH gene to chromosome 16p13.3 by in situ hybridization. SOLH is a candidate gene for CATM (hereditary cataracts with microphthalmia), which maps in this region.
果蝇黑腹小视叶(sol)基因的突变会导致成年视叶的髓质和小叶复合体的神经纤维严重减少。sol预测的蛋白质产物包含锌指样重复序列、钙蛋白酶样蛋白酶结构域以及功能未知的C末端区域。我们分离出了人类大脑中与sol同源的SOLH的cDNA。人类SOLH基因由14个外显子组成,分布在超过45kb的基因组DNA上。编码的1086个氨基酸的SOLH蛋白与果蝇蛋白有很强的相似性。钙蛋白酶样结构域和C末端区域高度保守(同一性为58%),并且在N末端区域存在相似的Cys2-Cys2锌指。已报道的秀丽隐杆线虫同源物包含钙蛋白酶结构域和C末端区域,但似乎缺少锌指区域。在相邻的秀丽隐杆线虫基因组黏粒DNA序列中存在锌指序列的单拷贝,并且我们表明它是秀丽隐杆线虫sol样转录本的一部分。对人类组织的Northern分析显示,在人类大脑中最强的约5kb的SOLH转录本。我们通过原位杂交将SOLH基因定位到16号染色体p13.3。SOLH是CATM(伴有小眼症的遗传性白内障)的候选基因,CATM基因也定位在该区域。