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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.

The mouse p locus encodes a gene that functions in normal pigmentation. We have characterized a radiation-induced mutant allele of the mouse p locus that is associated with a failure-to-thrive syndrome, in addition to diminished pigmentation. Mice homozygous for this mutant allele, p(100H), show delayed growth and die within 2 wk after birth. We have discovered that the mutant mice develop progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. These observations are common characteristics described in human myopathies. The karyotype of p(100H) chromosomes indicated that the mutation is associated with a chromosome 7 inversion. We demonstrate here that the p(100H) chromosomal inversion disrupts both the p gene and the Sox6 gene. Normal Sox6 gene expression has been examined by Northern blot analysis and was found most abundantly expressed in skeletal muscle in adult mouse tissues, suggesting an involvement of Sox6 in muscle maintenance. The p(100H) mutant is thus a useful animal model in the elucidation of myopathies at the molecular level.[1]


  1. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Hagiwara, N., Klewer, S.E., Samson, R.A., Erickson, D.T., Lyon, M.F., Brilliant, M.H. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
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