Sox6 is a candidate gene for p(100H) myopathy, heart block, and sudden neonatal death

Nobuko Hagiwara, Scott E. Klewer, Ricardo A. Samson, Drew T. Erickson, Mary F. Lyon, Murray H. Brilliant

Research output: Contribution to journalArticle

60 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)4180-4185
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume97
Issue number8
DOIs
StatePublished - Apr 11 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • General

Fingerprint Dive into the research topics of 'Sox6 is a candidate gene for p(100H) myopathy, heart block, and sudden neonatal death'. Together they form a unique fingerprint.

  • Cite this