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| SEQUENCE AND LOCALIZATION OF A PARTIAL CDNA-ENCODING THE HUMAN ALPHA-3 CHAIN OF TYPE-IV COLLAGEN |
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| Author(s): MORRISON KE, MARIYAMA M, YANGFENG TL, REEDERS ST |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Issue: 3 Pages: 545-554 Published: SEP 1991 |
| Times Cited: 96 References: 41 |
| Abstract: A novel type IV collagen, alpha-3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha-3(IV) chain. Of interest is the possible role of abnormalities of the alpha-3(IV) chain in Alport syndrome, as suggested by the failure to detect the NC1 domain of alpha-3(IV) in the basement membranes of some Alport syndrome patients. To determine whether the alpha-3(IV) gene (COL4A3) may be mutated in Alport syndrome, we localized it, by somatic cell hybrid analysis and in situ hybridization of metaphase chromosomes, to chromosome 2q35-2q37. Mutations in alpha-3(IV) cannot therefore be responsible for the vast majority of cases of Alport syndrome, which have been shown to be X linked. One explanation for the immunochemical data implicating alpha-3(IV) in Alport syndrome pathogenesis is that mutations of the alpha-5(IV) chain, which has been localized to Xq22 and found to be mutated in at least three kindreds with Alport syndrome, lead to failure to incorporate the alpha-3(IV) chains into the multimeric structure of glomerular basement membrane in a stable fashion. |
| Document Type: Article |
| Language: English |
Addresses:
1. YALE UNIV, SCH MED, DEPT INTERNAL MED, NEPHROL SECT, 2073 LMP, 333 CEDAR ST, NEW HAVEN, CT 06510 USA
2. YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
3. YALE UNIV, SCH MED, HOWARD HUGHES MED INST, NEW HAVEN, CT 06510 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: GE367 |
| ISSN: 0002-9297 |
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