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Publication : A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.

First Author  Li Y Year  1995
Journal  Cell Volume  80
Issue  3 Pages  423-30
PubMed ID  7859283 Mgi Jnum  J:22965
Mgi Id  MGI:70833 Citation  Li Y, et al. (1995) A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis [see comments]. Cell 80(3):423-30
abstractText  Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the alpha 1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho alpha 1 (XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.
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