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Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.
Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.
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.
0002-9297
545-554
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Mariyama, M.
6dd0b7f2-d974-4b35-9cce-a24d5d7397b4
Yang-Feng, T.L.
2352698f-0bf2-4619-a117-6f58b1ae91b7
Reeders, S.T.
68cbd8f9-d203-4375-92dc-2ac0ca36799e
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Mariyama, M.
6dd0b7f2-d974-4b35-9cce-a24d5d7397b4
Yang-Feng, T.L.
2352698f-0bf2-4619-a117-6f58b1ae91b7
Reeders, S.T.
68cbd8f9-d203-4375-92dc-2ac0ca36799e

Morrison, K.E., Mariyama, M., Yang-Feng, T.L. and Reeders, S.T. (1991) Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen. The American Journal of Human Genetics, 49 (3), 545-554. (PMID:1882840)

Record type: Article

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.

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Published date: September 1991
Organisations: Medical Education

Identifiers

Local EPrints ID: 399573
URI: http://eprints.soton.ac.uk/id/eprint/399573
ISSN: 0002-9297
PURE UUID: 18bac809-da43-4f80-ba2f-ef0ac86bb375
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 13:56
Last modified: 06 Jun 2018 12:19

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Contributors

Author: K.E. Morrison ORCID iD
Author: M. Mariyama
Author: T.L. Yang-Feng
Author: S.T. Reeders

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