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Title: Physical and linkage mapping of the human and murine genes for the [alpha]1 chain of type IX collagen (COL9A1)

Journal Article · · Genomics; (United States)
 [1]; ;  [2]; ;  [3]; ;  [4];  [5]
  1. Harvard Medical School, Boston, MA (United States) Children's Hospital/Harvard Medical School, Boston, MA (United States)
  2. Vanderbilt Univ. Medical Center, Nashville, TN (United States)
  3. Duke Univ. Medical Center, Durham, NC (United States)
  4. Children's Hospital/Harvard Medical School, Boston, MA (United States)
  5. Harvard Medical School, Boston, MA (United States)

The IX collagen, a member of the FACIT family of extracellular matrix proteins, is a heterotrimer composed of three genetically distinct [alpha] chains. The cDNAs for the human and mouse [alpha]1(IX) chains have been cloned. In this paper the authors confirm the mapping of the human COL9A1 gene to chromosome 6q12-q13 by fluorescence in situ hybridization utilizing two genomic clones which also contain short tandem repeat polymorphisms. They also report the characterization of these repeats and their incorporation into the chromosome 6 linkage map. The COL9A1 locus shows no recombination with the marker D6Z1 (Z = 27.61 at [theta] = 0) and identifies the most likely locus order of KRAS1P-[D6Z1-COL9A1]-D6S30. In addition, using an interspecific backcross panel, they have mapped murine Col9a1 to mouse chromosome 1. Together with other comparative mapping results, these data suggest that the pericentric region of human chromosome 6 is homologous to the most proximal segment of mouse chromosome 1. These data may facilitate linkage studies with COL9A1 (or col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis. 35 refs., 2 figs., 2 tabs.

OSTI ID:
7160254
Journal Information:
Genomics; (United States), Vol. 17:3; ISSN 0888-7543
Country of Publication:
United States
Language:
English