Literature DB >> 8406504

Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.

K Otsu1, J Fujii, M Periasamy, M Difilippantonio, M Uppender, D C Ward, D H MacLennan.   

Abstract

Fluorescence in situ hybridization (FISH) experiments were performed using genomic and complementary DNA probes in order to determine the location on human chromosomes for five genes expressed in cardiac and skeletal muscle sarcoplasmic reticulum. The chromosome location of each gene was determined in terms of both cytogenetic bands and fractional chromosome length. The ATP2A2 gene, expressing the SERCA2 isoform of the Ca2+ pump, maps to bands 12q23-q24.1, the phospholamban gene (PLN) to 6q22.1, the human skeletal muscle calsequestrin gene (CASQ1) to band 1q21, the cardiac calsequestrin gene (CASQ2) to bands 1p11-p13.3, and the cardiac calcium release channel gene (RYR2) to the interval between band 1q42.1 (distal) and band 1q43 (proximal).

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Year:  1993        PMID: 8406504     DOI: 10.1006/geno.1993.1357

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  12 in total

Review 1.  Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.

Authors:  Silvia G Priori; Carlo Napolitano
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

2.  Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.

Authors:  Wendy Creighton; Renu Virmani; Robert Kutys; Allen Burke
Journal:  J Mol Diagn       Date:  2006-02       Impact factor: 5.568

3.  Microscopy and image analysis.

Authors:  George McNamara; Michael J Difilippantonio; Thomas Ried
Journal:  Curr Protoc Hum Genet       Date:  2005-08

4.  The gene encoding sarcoplasmic reticulum calcium ATPase-1 (Atp2a1) maps to distal mouse chromosome 7.

Authors:  M Schleef; D Simon-Chazottes; A Lengeling; R Klocke; H Jockusch; Y Yarden; J Guénet
Journal:  Mamm Genome       Date:  1996-10       Impact factor: 2.957

5.  Construction of a porcine YAC library and mapping of the cardiac muscle ryanodine receptor gene to chromosome 14q22-q23.

Authors:  T Leeb; G Rettenberger; H Hameister; G Brem; B Brenig
Journal:  Mamm Genome       Date:  1995-01       Impact factor: 2.957

6.  A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Authors:  H Lahat; E Pras; T Olender; N Avidan; E Ben-Asher; O Man; E Levy-Nissenbaum; A Khoury; A Lorber; B Goldman; D Lancet; M Eldar
Journal:  Am J Hum Genet       Date:  2001-10-25       Impact factor: 11.025

7.  cDNA cloning, expression and chromosomal localization of the human sarco/endoplasmic reticulum Ca(2+)-ATPase 3 gene.

Authors:  L Dode; F Wuytack; P F Kools; F Baba-Aissa; L Raeymaekers; F Briké; W J van de Ven; R Casteels; F Brik
Journal:  Biochem J       Date:  1996-09-01       Impact factor: 3.857

Review 8.  The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.

Authors:  Elliot T Sibbles; Helen M M Waddell; Valeria Mereacre; Peter P Jones; Michelle L Munro
Journal:  Biophys Rev       Date:  2022-01-07

Review 9.  Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management.

Authors:  Silvia G Priori; Carlo Napolitano; Alessandro Vicentini
Journal:  J Interv Card Electrophysiol       Date:  2003-10       Impact factor: 1.900

10.  The human protein disulfide isomerase gene family.

Authors:  James J Galligan; Dennis R Petersen
Journal:  Hum Genomics       Date:  2012-07-05       Impact factor: 4.639

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