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Myosin, heavy chain 7, cardiac muscle, beta

MYH7
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on MYH7
The qdot-labeled actin super-resolution motility assay measures low-duty cycle muscle Myosin step size.
New
Burghardt et al., Rochester, United States. In Biochemistry, 05 Apr 2013
Single Qdots were imaged in time with total internal reflection fluorescence microscopy and then spatially localized to 1-3 nm using a super-resolution algorithm as they translated with actin over a surface coated with skeletal heavy meromyosin (sHMM) or full-length β-cardiac myosin (MYH7).
Structural insight into the UNC-45-Myosin complex.
New
Pajeva et al., Sofia, Bulgaria. In Proteins, 14 Mar 2013
Initially, the human UNC-45B binding epitope was identified and the protein was docked to the cardiac myosin (MYH7) motor domain.
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
New
Elliott et al., London, United Kingdom. In J Med Genet, 08 Mar 2013
Four sarcomeric genes (MYH7, MYBPC3, TNNI3, TNNT2) showed an excess of rare single non-synonymous single-nucleotide polymorphisms (nsSNPs) in cases compared to controls.
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
New
Yacoub et al., Cairo, Egypt. In J Cardiovasc Transl Res, 28 Feb 2013
The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients.
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
New
van Tintelen et al., Groningen, Netherlands. In Eur J Heart Fail, 24 Feb 2013
Other mutations were found in: MYH7, DES, TNNT2, DMD, TPM1, DMPK, SCN5A, SGCB (homozygous), and TNNI3.
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
New
Impact
Wu et al., Stanford, United States. In Cell Stem Cell, 03 Feb 2013
To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs) from a ten-member family cohort carrying a hereditary HCM missense mutation (Arg663His) in the MYH7 gene.
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
New
Hui et al., Beijing, China. In Mol Biol Rep, 03 Feb 2013
The frequency of mutations in MYH7, MYBPC3, TNNT2 and TNNI3 was 26.0, 18.0, 4.0 and 3.5 % respectively.
Genetic mutations and mechanisms in dilated cardiomyopathy.
Review
New
Puckelwartz et al., Chicago, United States. In J Clin Invest, 02 Feb 2013
Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere.
Mechanisms of disease: hypertrophic cardiomyopathy.
Review
New
Katus et al., Kiel, Germany. In Nat Rev Cardiol, Feb 2012
Interestingly, most of these genes encode sarcomeric proteins, such as myosin-7 (also known as cardiac muscle β-myosin heavy chain; MYH7), cardiac myosin-binding protein C (MYBPC3), and cardiac muscle troponin T (TNNT2).
A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.
Drögemüller et al., Bern, Switzerland. In Bmc Genet, 2011
Human distal myopathy type 1 (MPD1), a disease partially resembling CPS in pigs, has been associated with mutations in the MYH7 gene.
β-myosin heavy chain is induced by pressure overload in a minor subpopulation of smaller mouse cardiac myocytes.
GeneRIF
Simpson et al., San Francisco, United States. In Circ Res, 2011
After transverse aortic constriction hypertrophied myocytes contain no beta-myosin heavy chain (betaMyHC), only alpha-MyHC, identifying a new subpopulation of smaller working ventricular myocytes with more myosin.
[Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families].
GeneRIF
Liang et al., Beijing, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011
gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy
The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
GeneRIF
Ling et al., Malmö, Sweden. In Mol Genet Metab, 2011
the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle.
[Advances in the molecular pathogenesis of hypertrophic cardiomyopathy].
Review
Yan et al., Hangzhou, China. In Yi Chuan, 2011
To date, over 900 mutations have been reported in HCM, which were mainly located in 13 genes encoding cardiac sarcomere protein, e.g., MYH7, MYBPC3, and TnT.
[Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy].
GeneRIF
Yang et al., China. In Zhonghua Xin Xue Guan Bing Za Zhi, 2011
There is a high frequency of mutation in the MYH7 gene in Chinese hypertrophic cardiomyopathy families.
Chromatin regulation by Brg1 underlies heart muscle development and disease.
Impact
Chang et al., Stanford, United States. In Nature, 2010
Adult cardiomyocytes in mice primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7).
Hypertrophic cardiomyopathy: from genetics to treatment.
Review
Marian, Houston, United States. In Eur J Clin Invest, 2010
MYH7 and MYBPC3 mutations account for about 50% of cases.
Reversible epigenetic modifications of the two cardiac myosin heavy chain genes during changes in expression.
GeneRIF
Smithies et al., Chapel Hill, United States. In Gene Expr, 2009
Reexpression of bMHC is associated at the bMHC promoter with increased H3ac but not H3K4me3.
Insights into human beta-cardiac myosin function from single molecule and single cell studies.
Review
Spudich et al., Stanford, United States. In J Cardiovasc Transl Res, 2009
Thirty percent of the point mutations that result in hypertrophic cardiomyopathy are localized to MYH7, the gene encoding human beta-cardiac myosin heavy chain (beta-MyHC).
Shared genetic causes of cardiac hypertrophy in children and adults.
Impact
Seidman et al., Boston, United States. In N Engl J Med, 2008
We sequenced eight genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, and ACTC.
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