Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death
AUTOR(ES)
Hagiwara, Nobuko
FONTE
The National Academy of Sciences
RESUMO
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, p100H, 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 p100H chromosomes indicated that the mutation is associated with a chromosome 7 inversion. We demonstrate here that the p100H 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 p100H mutant is thus a useful animal model in the elucidation of myopathies at the molecular level.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=18189Documentos Relacionados
- Cardiomyocyte overexpression of iNOS in mice results in peroxynitrite generation, heart block, and sudden death
- Complete heart block and sudden death in mice overexpressing calreticulin
- Sox6 regulation of cardiac myocyte development
- The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6
- Ischaemic heart disease and prodromes of sudden cardiac death. Is it possible to identify high risk groups for sudden cardiac death?