TY - JOUR
T1 - Human bHLH transcription factor gene myogenin (MYOG)
T2 - Genomic sequence and negative mutation analysis in patients with severe congenital myopathies
AU - Tseng, Brian S.
AU - Cavin, Sash T.
AU - Hoffman, Eric P.
AU - Iannaccone, Susan T.
AU - Mancias, Pedro
AU - Booth, Frank W.
AU - Butler, Ian J.
N1 - Funding Information:
We thank Dr. Eric N. Olson for helping facilitate this research in its early stages, Dr. David Needleman and Ms. Renata Ng for DNA sequencing expertise in the UT-Houston Medical School, Department of Microbiology and Molecular Genetics, and Mr. Ronnie Houston at Texas Scottish Rite Hospital, Dr. Dave Duggan from University of Pittsburgh, and Dr. Manuel Gonzalez for assistance with figures. B.S.T. was supported in part by the UT-Houston Medical School and M.D. Anderson Cancer Center M.D./Ph.D. Program. This work was also supported in part by grants from the National Shri-ners’ Hospital for Children Research Project 5953, UT-Houston Medical School Dean’s Fund, Graduate School of Biomedical Sciences, the Adrianna Blood Foundation, and NIH Grant AR 19393.
PY - 1999/5/1
Y1 - 1999/5/1
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1998.5719
DO - 10.1006/geno.1998.5719
M3 - Article
C2 - 10329008
AN - SCOPUS:0033135082
SN - 0888-7543
VL - 57
SP - 419
EP - 423
JO - Genomics
JF - Genomics
IS - 3
ER -