Papers

Peer-reviewed
May, 1998

Organization and expression of basement membrane collagen IV genes and their roles in human disorders

JOURNAL OF BIOCHEMISTRY
  • Y Sado
  • ,
  • M Kagawa
  • ,
  • Naito, I
  • ,
  • Y Ueki
  • ,
  • T Seki
  • ,
  • R Momota
  • ,
  • T Oohashi
  • ,
  • Y Ninomiya

Volume
123
Number
5
First page
767
Last page
776
Language
English
Publishing type
Publisher
JAPANESE BIOCHEMICAL SOC

Six distinct genes have been identified as belonging to the type IV collagen gene family. They can be organized into three sets, i.e., COL4A1/COL4A2, COL4A3/COL4A4, and COL4A5/COL4A6, which are localized on three different chromosomes in humans, 13, 2, and X, respectively, Within each set the genes are aligned head-to-head and their expression is regulated by bidirectional promoters between the genes. Transcriptional regulation of the COL4A1/COL4A2 set has been well characterized, The transcription of COL4A6 seems to be controlled by two alternative promoters. While collagen IV molecules composed of alpha 1 and alpha 2 chains are broadly distributed, molecules comprising combinations of the other four chains, alpha 3-alpha 6, are important components of specialized basement membranes, The precise chain composition of triple-helical molecules assembled from the alpha 3-alpha 6 chains is not entirely clear, but it is hypothesized that alpha 3-alpha 5 chains and alpha 5 and alpha 6 chains form heterotrimeric molecules. Several pieces of evidence indicate that alpha 3/alpha 4/alpha 5 molecules and alpha 5/alpha 6 molecules are components of the basement membrane network, This helps explain the observation that the kidney and skin basement membranes from patients with Alport syndrome caused by mutations in the alpha 5 coding gene, COL4A5, are defective in the alpha 3, alpha 4, and alpha 6 chains together with the alpha 5 chain. Large deletions involving the COL4A5 and COL4A6 genes have been found in rare cases of diffuse leiomyomatosis associated with Alport syndrome.


Link information
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000073630400001&DestApp=WOS_CPL
URL
http://orcid.org/0000-0002-7003-3444
ID information
  • ISSN : 0021-924X
  • ORCID - Put Code : 9101221
  • Web of Science ID : WOS:000073630400001

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