Identification of the putative collagen X gene from the pufferfish Fugu rubripes.

Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.

The type X collagen gene is the classical marker of hypertrophic chondrocytes. Mutations in the human collagen X gene cause metaphyseal chondrodysplasia type Schmid (MCDS). In order to gain insight into the evolution of collagen X genes, we identified a putative collagen X gene from the pufferfish Fugu rubripes. We demonstrated expression of the putative Fugu collagen X gene by reverse transcription-polymerase chain reaction (RT-PCR) with primers spanning intron 1. The Fugu collagen X gene shares a common gene structure and high amino acid identity with mammalian and chicken collagen X genes. Interestingly, we have found that most of the residues mutated in human MCDS are highly conserved in the Fugu gene. The availability of the Fugu collagen X gene sequence will be of value in the identification of functionally important residues within the protein and for delineating regulatory elements that control collagen X gene expression in chondrocytes.

PMID: 15573454 [PubMed - indexed for MEDLINE]