Human bHLH transcription factor gene myogenin (MYOG): Genomic sequence and negative mutation analysis in patients with severe congenital myopathies

Brian S. Tseng, Sash T. Cavin, Eric P. Hoffman, Susan T. Iannaccone, Pedro Mancias, Frank W. Booth, Ian J. Butler

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The myogenin gene encodes an evolutionarily conserved basic helix-loop- helix transcription (bHLH) factor that is required for differentiation of skeletal muscle, and its homozygous deletion in mice results in perinatal death from respiratory failure due to the lack of muscle fibers. Since the histology of skeletal muscle in myogenin null mice is reminiscent of that found in severe congenital myopathy patients, many of whom also die of respiratory complications, we sought to test the hypothesis that an aberrant human myogenin (myf4) coding region could be associated with some congenital myopathy conditions. With PCR amplification, we found similarly sized PCR products for the three exons of the myogenin gene in DNA from 37 patient and 40 control individuals. In contrast to previously reported sequencing of human myogenin (myf4), we describe with automated sequencing several base differences in flanking and coding regions plus an additional 659 and 498 bp in the first and second introns, respectively, in all 37 patient and 40 control samples. We also Find a variable length (CA)-dinucleotide repeat in the second intron, which may have utility as a marker for future linkage studies. In summary, no causative mutations were detected in the myogenin coding locus of genomic DNA from 37 patients with severe congenital myopathy.

Original languageEnglish (US)
Pages (from-to)419-423
Number of pages5
JournalGenomics
Volume57
Issue number3
DOIs
StatePublished - May 1 1999

Fingerprint

Myotonia Congenita
Myogenin
Transcription Factors
Mutation
Genes
Introns
Skeletal Muscle
Dinucleotide Repeats
Basic Helix-Loop-Helix Transcription Factors
Polymerase Chain Reaction
DNA
Respiratory Insufficiency
Exons
Histology
Muscles

ASJC Scopus subject areas

  • Genetics

Cite this

Human bHLH transcription factor gene myogenin (MYOG) : Genomic sequence and negative mutation analysis in patients with severe congenital myopathies. / Tseng, Brian S.; Cavin, Sash T.; Hoffman, Eric P.; Iannaccone, Susan T.; Mancias, Pedro; Booth, Frank W.; Butler, Ian J.

In: Genomics, Vol. 57, No. 3, 01.05.1999, p. 419-423.

Research output: Contribution to journalArticle

Tseng, Brian S. ; Cavin, Sash T. ; Hoffman, Eric P. ; Iannaccone, Susan T. ; Mancias, Pedro ; Booth, Frank W. ; Butler, Ian J. / Human bHLH transcription factor gene myogenin (MYOG) : Genomic sequence and negative mutation analysis in patients with severe congenital myopathies. In: Genomics. 1999 ; Vol. 57, No. 3. pp. 419-423.
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