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|Title:||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)|
|Citation:||Genomics, 1998; 51(2):197-206|
|Publisher:||ACADEMIC PRESS INC ELSEVIER SCIENCE|
|Makoto Kamei, Graham C. Webb, Ian G. Young, Hugh D. Campbell|
|Abstract:||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.|
|Keywords:||Chromosomes, Human, Pair 16; Animals; Humans; Drosophila melanogaster; Microphthalmos; Cataract; Calpain; Proteins; DNA, Complementary; RNA, Messenger; Physical Chromosome Mapping; Cloning, Molecular; Sequence Analysis, DNA; Organ Specificity; Brain Chemistry; Amino Acid Sequence; Zinc Fingers; Sequence Homology, Amino Acid; Gene Dosage; Genes; Expressed Sequence Tags; Molecular Sequence Data; Female; Male|
|Appears in Collections:||Obstetrics and Gynaecology publications|
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