• Myogenic regulatory factors (MRFs): MyoD, Myf5, Myf6 and Myogenin. (wikipedia.org)
  • The Y-box protein MSY3/Csda represses myogenin transcription in skeletal muscle by binding a highly conserved cis-acting DNA element located just upstream of the myogenin minimal promoter (myogHCE). (biomedcentral.com)
  • While Akt over-expression rescued myogenin expression in MSY3 overexpressing myogenic cells, ablation of the Akt substrate, (Ser126 located in the MSY3 cold shock domain) promoted MSY3 accumulation in the nucleus and abolished this rescue. (biomedcentral.com)
  • This study highlights a previously undescribed Akt-mediated signaling pathway involved in the repression of myogenin expression in myogenic cells and in mature muscle. (biomedcentral.com)
  • Basic helix-loop-helix (bHLH) myogenic regulatory factors coordinate the correct function and organization of many skeletal muscle functions. (biomedcentral.com)
  • These substitutions either create premature termination codons, which lead to truncated proteins, or substitute highly conserved residues in the bHLH region. (biomedcentral.com)
  • Lateral chains of residues within the T-loop and E-loop of bHLH domains are visualized in orange, while DNA is represented in dark grey. (proteopedia.org)
  • We next aimed to identify residues essential for interhelical loop conformation. (proteopedia.org)
  • By limiting our study to H-bonds with an occupancy exceeding 5% of the total simulation and by excluding H-bonds between residues of different protein partners or involved in α-helix structures, we were led to focus on four TWIST1 residues: Lys145, Ser144, Arg132 and Arg118. (proteopedia.org)
  • In their bHLH domains, TWIST1 is 48% and 29% identical to the murine NEUROD1 and E47 proteins. (proteopedia.org)
  • Although the C-terminal sequences adjacent to the bHLH domain, constitute a protein interaction site essential for TWIST function [4] [5] , we reasoned that a structural model restricted to the bHLH domains should provide additional insights into the TWIST-DNA interface and highlight functional differences between TWIST1 complexes. (proteopedia.org)
  • Consequently, to gain further insights into the role of the interhelical loops in TWIST1 dimer function and specificity, we next focused on additional Saerthe-Chotzen associated TWIST1 variants with aberrant insertion of 7 amino acids into the interhelical loop at position 135 or 139 (Ins-135 or Ins-139) due to the presence of a 21-bp tandem repeat in the TWIST1 gene [7] . (proteopedia.org)
  • H-bond) on the E-loop, during dynamics simulation of the dimer TWIST1/TWIST1 (the T- and E-loops are respectively represented in salmon and cyan ribbons). (proteopedia.org)
  • In conclusion, our data support the view that interhelical loops within the bHLH play a determining role in maintaining TWIST1-DNA complex structures and provide a structural explanation for the loss of function associated with several TWIST1 mutations/insertions observed in SC patients. (proteopedia.org)
  • Bouard C, Terreux R, Hope J, Chemelle JA, Puisieux A, Ansieau S, Payen L. Interhelical loops within the bHLH domain are determinant in maintaining TWIST1-DNA complexes. (proteopedia.org)
  • The bHLH transcription factor TWIST1 plays a key role in the embryonic development and in tumorigenesis. (biomedcentral.com)
  • Consistently, MD simulations highlighted a clear decrease in the stability of the α-helix during the dimerization of the mutated R154P TWIST1/E12 dimer compared to the wild-type TE complex, which was further confirmed in vitro using immunoassays. (biomedcentral.com)
  • TWIST1 is a transcription factor belonging to the basic helix-loop-helix (bHLH) superfamily. (biomedcentral.com)
  • Associated Genetic Factors: PAX3 and c-Met Mutations in PAX3 can cause a failure in c-Met expression. (wikipedia.org)
  • Associated Genetic Factors: c-Met/HGF and LBX1 Mutations in these genetic factors causes a lack of migration. (wikipedia.org)
  • Over 160 TWIST mutations have been described in SCS patients, a majority of which are present in the bHLH domains, mediating protein dimerization, and involving a single base pair substitution (54% of mutations). (biomedcentral.com)
  • MSY3 (MSY4, YB-2, CSDA, dbpA, ZONAB) is a member of the cold shock domain (CSD) family of proteins also known as Y-box proteins, which are evolutionarily conserved proteins that function as transcription factors and regulators of RNA metabolism and protein synthesis. (biomedcentral.com)
  • Although these loops do not have a structural organization strictly speaking, H-bond formation can stiffen their structure. (proteopedia.org)
  • Serum response factor (SRF) plays a central role during myogenesis, being required for the expression of striated alpha-actin genes. (wikipedia.org)
  • Associated Genetic Factors: PAX3, c-Met, Mox2, MSX1, Six, Myf5, and MyoD Mox2 (also referred to as MEOX-2) plays an important role in the induction of mesoderm and regional specification. (wikipedia.org)
  • Impairing the function of Mox2 will prevent the proliferation of myogenic precursors and will cause abnormal patterning of limb muscles. (wikipedia.org)
  • PAX3 mediates the transcription of c-Met and is responsible for the activation of MyoD expression-one of the functions of MyoD is to promote the regenerative ability of satellite cells (described below). (wikipedia.org)
  • Skeletal muscle and myogenic C2C12 cells were used to study the effects of MSY3 phosphorylation in vivo and in vitro on its sub-cellular localization and activity, by blocking the IGF1/PI3K/Akt pathway, by Akt depletion and over-expression, and by mutating potential MSY3 phosphorylation sites. (biomedcentral.com)
  • Finally, the expression patterns of three neuronal type-specific transcription factors, unc-3, unc-4 and unc-30 , were altered. (biologists.com)
  • Our data suggest that cnd-1 may specify the identity of ventral cord motor neurons both by maintaining the mitotic competence of their precursors and by modulating the expression of neuronal type-specific determination factors. (biologists.com)
  • This valuable data study presents convincing data that expression of the C. elegans transcription factor NHR-67 is sufficient to drive an invasive fate, and that the alternative proliferative fate is associated with NHR-67 transcriptional down-regulation. (elifesciences.org)
  • If placed in cell culture, most myoblasts will proliferate if enough fibroblast growth factor (FGF) or another growth factor is present in the medium surrounding the cells. (wikipedia.org)
  • In C2C12 myogenic cells, blocking the IGF1/PI3K/Akt pathway using LY294002 inhibitor reduced MSY3 phosphorylation levels resulting in its accumulation in the nuclei. (biomedcentral.com)
  • Transcription of nhr-67 is downregulated following post-translational degradation of its direct upstream regulator, HLH-2 (E/Daughterless) in VU cells. (elifesciences.org)
  • These consequences further reveal the complexity of myogenesis and the importance of each genetic factor in proper muscle development. (wikipedia.org)
  • The basic helix-loop-helix transcription factor NeuroD (Neurod1) has been implicated in neuronal fate determination, differentiation and survival. (biologists.com)
  • When the growth factor runs out, the myoblasts cease division and undergo terminal differentiation into myotubes. (wikipedia.org)
  • Musculin (MSC) is a basic helix-loop-helix transcription factor that inhibits myogenesis during normal development and contributes to the differentiation defect in rhabdomyosarcoma. (biomedcentral.com)
  • Rhabdomyosarcoma (RMS) is a pediatric tumor of skeletal muscle that fails to undergo terminal myogenic differentiation properly. (biomedcentral.com)
  • 9. Inhibitor of differentiation 4 (ID4) acts as an inhibitor of ID-1, -2 and -3 and promotes basic helix loop helix (bHLH) E47 DNA binding and transcriptional activity. (nih.gov)
  • 10. Induction of basic helix-loop-helix protein-containing complexes during erythroid differentiation. (nih.gov)
  • 12. The TAL1/Scl basic helix-loop-helix protein blocks myogenic differentiation and E-box dependent transactivation. (nih.gov)
  • These studies demonstrate that the Rep domain is important for modulating the transcriptional activity of E proteins and provide key insights into both the selectivity and mechanism of action of E protein containing bHLH protein complexes. (nih.gov)
  • 6. TAL1, TAL2 and LYL1: a family of basic helix-loop-helix proteins implicated in T cell acute leukaemia. (nih.gov)
  • 8. Helix-loop-helix proteins LYL1 and E2a form heterodimeric complexes with distinctive DNA-binding properties in hematolymphoid cells. (nih.gov)
  • We demonstrate that two basic helix-loop-helix (bHLH) proteins- HEB and E2A -bind the SCA motif at regions overlapping SMAD2 /3 and FOXH1 . (xenbase.org)
  • It cleaves the membrane-bound precursor of TUMOR NECROSIS FACTOR-ALPHA between ALANINE 76 and VALINE 77 to its functional form, as well as several other CELL SURFACE PROTEINS to their soluble forms, including AMYLOID BETA-PROTEIN PRECURSOR and PRION PROTEIN. (nih.gov)
  • HN - 2017 MH - ADAM12 Protein UI - D000072199 MN - D8.811.277.656.675.374.102.125 MN - D9.400.430.500.125 MN - D12.776.395.33.125 MS - A disintegrin and metalloproteinase domain-containing protein that is expressed as two alternatively-spliced forms: a long transmembrane form (ADAM12-L) and a short soluble form (ADAM12-S). It modulates the cleavage of INSULIN-LIKE GROWTH FACTOR BINDING PROTEINS and may also regulate CELL FUSION during MYOGENESIS. (nih.gov)
  • Myf5 is considered to be the earliest expressed regulatory factor gene in myogenesis. (wikipedia.org)
  • Homodimeric complexes of members of the E protein family of basic helix-loop-helix (bHLH) transcription factors are important for tissue-specific activation of genes in B lymphocytes (Bain, G., Gruenwald, S., and Murre, C. (1993) Mol. (nih.gov)
  • We report here the identification of a novel cis-acting transcriptional repression domain in the E protein family of bHLH transcription factors. (nih.gov)
  • The myogenic activity of MyoD can be inhibited by a variety of transcription factors, including other members of the bHLH protein family [ 4 ]. (biomedcentral.com)
  • The myogenic inhibitor MSC binds throughout the genome of rhabdomyosarcoma cells, in a pattern highly similar to that of MyoD, suggesting a broad role in buffering the activity of MyoD in development and rhabdomyosarcomas. (biomedcentral.com)
  • Musculin (MSC) is a small bHLH inhibitor that functions with a variety of mechanisms. (biomedcentral.com)
  • tcf12 (transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)) gene expression in Xenopus tropicalis embryos, NF stage 10.5, as assayed by in situ hybridization, blastoporal view, animal up. (xenbase.org)
  • They include: Myocyte enhancer factors (MEFs), which promote myogenesis. (wikipedia.org)
  • Serum response factor (SRF) plays a central role during myogenesis, being required for the expression of striated alpha-actin genes. (wikipedia.org)
  • These consequences further reveal the complexity of myogenesis and the importance of each genetic factor in proper muscle development. (wikipedia.org)
  • As one of many transcription factors that impede myogenesis, its binding on a genome-wide scale relative to the widespread binding of the myogenic factor MyoD is unknown. (biomedcentral.com)
  • The MSC:E-protein heterodimer binds to E-boxes and inhibits myogenic reporters and MyoD-mediated myogenesis [ 10 ]. (biomedcentral.com)
  • Myogenic regulatory factors (MRFs): MyoD, Myf5, Myf6 and Myogenin. (wikipedia.org)
  • Associated Genetic Factors: PAX3, c-Met, Mox2, MSX1, Six, Myf5, and MyoD Mox2 (also referred to as MEOX-2) plays an important role in the induction of mesoderm and regional specification. (wikipedia.org)
  • PAX3 mediates the transcription of c-Met and is responsible for the activation of MyoD expression-one of the functions of MyoD is to promote the regenerative ability of satellite cells (described below). (wikipedia.org)
  • 7. Role of basic helix-loop-helix (bHLH) and CREB transcription factors in the regulation of Sertoli cell androgen-binding protein expression. (nih.gov)
  • Together these studies indicate that musculin might have either positive or negative activities in gene transcription depending on a variety of factors and cellular context. (biomedcentral.com)
  • 14. [Expression of transcription factor LYL1 in leukemia and its possible role in leukemogenesis]. (nih.gov)
  • 20. Overexpression of a transcription factor LYL1 induces T- and B-cell lymphoma in mice. (nih.gov)
  • We investigate the activities of the Pelle kinase and Twist basic helix-loop-helix (bHLH) transcription factor in transducing Toll signaling. (biologists.com)
  • Each stage has various associated genetic factors lack of which will result in muscular defects. (wikipedia.org)