SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is a member of the calpain and zinc-finger gene families and maps to human chromosome 16p13.3 near CATM (Cataract with microphthalmia)

被引:34
作者
Kamei, M
Webb, GC
Young, LG
Campbell, HD
机构
[1] Australian Natl Univ, Res Sch Biol Sci, Mol Genet & Evolut Grp, Canberra, ACT 2601, Australia
[2] Australian Natl Univ, Res Sch Biol Sci, Ctr Mol Struct & Funct, Canberra, ACT 2601, Australia
[3] Univ Adelaide, Queen Elizabeth Hosp, Dept Obstet & Gynaecol, Woodville, SA 5011, Australia
[4] Australian Natl Univ, John Curtin Sch Med Res, Div Biochem & Mol Biol, Canberra, ACT 2601, Australia
关键词
D O I
10.1006/geno.1998.5395
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Mutations in the Drosophila melanogaster smalt optic lobes (sot) gene cause a severe 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 sst. 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 Cys(2)-Cys(2) 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 similar to 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. (C) 1998 Academic Press.
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页码:197 / 206
页数:10
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