Article
Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2000
Nielsen V H, Bendixen C, Arnbjerg J, Sørensen C M, Jensen H E, Shukri N M, Thomsen B
Abstract excerpt
We have identified a naturally occurring, dominant mutation that causes dwarfism in domestic pigs (Sus scrofa). With a positional candidate gene approach, the dwarf phenotype was shown to be a result of a single amino acid change, G590R, in the alpha1 (X) chain of type X collagen. Type X collagen is a homotrimer of alpha1(X) chains encoded by the COL10A1 gene, which is expressed in hypertrophic chondrocytes...
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