MYH7


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MYH7

A gene on chromosome 14q12 that encodes a heavy chain of myosin and is thus involved in cytokinesis, cell shape and specialised functions—e.g., secretion and capping.
References in periodicals archive ?
ICC Gene Gene name Proportion of cases HCM MYBPC3 Myosin binding protein C, 15%-20% cardiac MYH7 Myosin, heavy chain 7 10%-15% TNNI3 Troponin I3, cardiac type [congruent to] 2% TNNT2 Troponin T2, cardiac type [congruent to] 2% TPM1 Tropomyosin 1 (alpha) [congruent to] 1.
The screening for mutations associated with the risk of sudden death (Arg403Gln, Arg453Cys, Arg7icTrp and Arg7icGln mutations in MYH7 Exons 13, 14, 19) revealed no mutations in any of the patients included in the study.
The mutation in alpha actinin-2 [19], the Ala26Val and Arg719Trp mutations in MYH7 [20], and the S297X mutation in the myosin binding protein Cgene [21] are also associated with HCM.
In this study, we analyzed the coding region including the intron-exon boundaries of the MYH7 gene corresponding to patients diagnosed with HCM to establish the frequency and possible types of mutations shown by this gene in the Venezuelan population.
The coding sequences of the MYH7 gene were amplified with PCR using genomic DNA, with primers reported in: http://www.
De cada paciente y control, previo su consentimiento informado, se aislo el ADN genomico, se amplificaron por PCR los exones que conforman tres de los genes asociados con casos geneticos de MCH (MYBPC3, MYH7, MYL2) y se secuenciaron a fin de detectar posibles mutaciones.
De cada paciente e controle, previo consentimento informado, se isolou o DNA genomico, se amplificaram por PCR os exons que conformam tres dos genes associados a casos geneticos de MCH (MYBPC3, MYH7, MYL2) e se sequenciaram a fim de detectar possiveis mutacoes.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .
Two of the patients were familial HCM patients who were carriers of missense mutations in the MYH7 [2] (myosin, heavy chain 7, cardiac muscle, beta) gene (Val822Met and Arg453Cys).
In brief, reference sequences for the genes MYH7 [4] (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)] were downloaded from the NCBI GenBank in FASTA format to generate a so-called "sequence file.
Overall, MYH7 would be mutated in 10-30% of families, whereas the genes encoding cardiac troponin T (TNNT2) on chromosome 1q3, [beta]tropomyosin (TPMA) on chromosome 15q2, and myosin-binding protein C (MYBPC) on chromosome 11p11.