Cloning and characterization of the mouse homolog (D12H14S564E) of a novel human cochlear gene (D14S564E)
- Harvard Medical School, Boston, MA (United States); and others
We have isolated mouse cDNA clones homologous to a novel human cochlear cDNA (D14S564E) identified by subtractive hybridization of a human fetal cochlear cDNA library with human fetal brain RNA. The human gene is preferentially expressed in cochlea, with low level expression in brain and eye, and has three transcripts of 2.0, 2.3, and 2.9 kb. To investigate the structure and function of the human cochlear gene and its role in the biology of hearing and deafness, we have cloned the mouse homolog (D12H14S564E). Mouse cDNAs, ranging from 2.0 to 3.5 kb, were identified with a mouse brain cDNA library screened by hybridization with the human cDNA. Analysis of mouse clones by DNA sequencing revealed significant homology with the human cochlear gene; in one region analyzed, the mouse clone possessed 88% homology over 525 bases with the human clone. In the area of homology, there is an open reading frame of approximately 125 amino acids. Comparison of the homologous sequence with those entered in GenBank identifies similarity with a von Willebrand factor type A-like domain in the area of sequence conservation, a feature consistent with the human clone. Known proteins containing the von Willebrand type A-like domain have diverse functions including extracellular matrix assembly, hemostasis, cellular adhesion and defense mechanisms. Further homology of mouse and human clones is supported by hybridization of the mouse clone to a Northern blot of human fetal cochlea and brain RNA; results show that the mouse clone hybridizes with the same three messages in the human cochlea RNA as does the novel human cochlear gene. D12H14S564E maps to mouse chromosome 12 in a region to which asp-1 (audiogenic seizure prone) is assigned. Further sequencing and expression studies are in progress to fully characterize the mouse gene and its homology with the novel human cochlear gene.
- OSTI ID:
- 133848
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0581
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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