Skeletal myogenesis is regulated by a group of transcription factors (MyoD, myogenin, myf5, and myf6) that are "basic helix-loop-helix" proteins that bind to the promoters of muscle-specific genes and promote their expression. We have previously shown that after a mutation of Leu122 to Arg the DNA binding basic domain of MyoD confers c-myc-like functional characteristics to the protein. In this study we used single-strand conformation polymorphism analysis to determine whether such mutations occur naturally in rhabdomyosarcomas. We have found that the basic domains of all the myogenic factors remain unaltered in rhabdomyosarcomas. Selection against such mutations may be the result of functional redundancy of these myogenic transcription factors.
G Anand, D N Shapiro, P S Dickman, E V Prochownik
Title and authors | Publication | Year |
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MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes
B Rekhi, P Upadhyay, MP Ramteke, A Dutt |
Modern Pathology | 2016 |
Single nucleotide polymorphisms linked to mitochondrial uncoupling protein genes UCP2 and UCP3 affect mitochondrial metabolism and healthy aging in female nonagenarians
S Kim, L Myers, E Ravussin, KE Cherry, SM Jazwinski |
Biogerontology | 2016 |
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations
S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi |
Nature Genetics | 2014 |
Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: Evidence for a common pathogenesis: MYOD1 Mutation in Rhabdomyosarcoma
NP Agaram, CL Chen, L Zhang, MP LaQuaglia, L Wexler, CR Antonescu |
Genes Chromosomes and Cancer | 2014 |
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma: MYOD1 mutation in adult spindle cell rhabdomyosarcoma
K Szuhai, D Jong, WY Leung, CD Fletcher, PC Hogendoorn |
The Journal of Pathology | 2014 |
Principles of Molecular Medicine
MS Runge, C Patterson |
2006 | |
Molecular features of a human rhabdomyosarcoma cell line with spontaneous metastatic progression
FA Scholl, DR Betts, FK Niggli, BW Schäfer |
British Journal of Cancer | 2000 |
The molecular regulation of myogenesis
LA Sabourin, MA Rudnicki |
Clinical Genetics | 2000 |
Human bHLH Transcription Factor GeneMyogenin(MYOG): Genomic Sequence and Negative Mutation Analysis in Patients with Severe Congenital Myopathies
BS Tseng, ST Cavin, EP Hoffman, ST Iannaccone, P Mancias, FW Booth, IJ Butler |
Genomics | 1999 |
Analysis of cyclin-dependent kinase inhibitor genes (CDKN2A, CDKN2B, andCDKN2C) in childhood rhabdomyosarcoma
A Iolascon, MF Faienza, B Coppola, A Rosolen, G Basso, FD Ragione, F Schettini |
Genes, Chromosomes and Cancer | 1996 |
The future of therapy for childhood rhabdomyosarcoma: Clues from molecular biology
LS Constine, RB Marcus, EC Halperin |
International journal of radiation oncology, biology, physics | 1995 |