The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6

Genomics. 1992 Oct;14(2):225-31. doi: 10.1016/s0888-7543(05)80210-1.

Abstract

Type XII collagen is a member of the FACIT (fibril-associated collagens with interrupted triple helices) group of extracellular matrix proteins. Like the other members of this group, collagen types IX and XIV, type XII has alternating triple-helical and non-triple-helical domains. Because of its structure, its association with collagen fibrils, and its distribution in dense connective tissues, type XII is thought possibly to act as a cross-bridge between fibrils and resist shear forces caused by tension. A portion of the ffuse gene was isolated by screening a genomic library with a chicken alpha 1 (XII) cDNA probe, followed by subcloning and sequence analysis. Comparison of exon sequences with the sequence of a mouse cDNA clone allowed the mouse gene to be identified as the alpha 1 (XII) collagen gene. In the mouse, Col12a1 is located on chromosome 9, as determined by linkage analysis using DNA from interspecific backcrosses with Mus spretus. Screening of a human genomic library also allowed the isolation of a human alpha 1(XII)-like gene (CoL12A1). This gene was mapped to chromosome 6 by blot hybridization to DNA from human/hamster hybrid cell lines. This information should prove useful in determining the role of type XII collagen genes as candidate genes in inheritable connective tissue diseases.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 6*
  • Collagen / genetics*
  • Cricetinae
  • DNA
  • DNA Probes
  • Humans
  • Hybrid Cells
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred DBA
  • Molecular Sequence Data
  • Muridae / genetics*
  • Polymerase Chain Reaction
  • Restriction Mapping

Substances

  • DNA Probes
  • Collagen
  • DNA

Associated data

  • GENBANK/M94591
  • GENBANK/M94592
  • GENBANK/M94593
  • GENBANK/M94594
  • GENBANK/S48373
  • GENBANK/S48374
  • GENBANK/S48383
  • GENBANK/S48391
  • GENBANK/S48401
  • GENBANK/S48406