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

Genomics. 1993 Aug;17(2):507-9. doi: 10.1006/geno.1993.1357.

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).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Calcium Channels / metabolism
  • Calcium-Binding Proteins / genetics
  • Calcium-Transporting ATPases / genetics
  • Calsequestrin / genetics
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 12*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Membrane Proteins / genetics
  • Muscles / metabolism*
  • Myocardium / metabolism*
  • Sarcoplasmic Reticulum / metabolism*

Substances

  • Calcium Channels
  • Calcium-Binding Proteins
  • Calsequestrin
  • Membrane Proteins
  • phospholamban
  • Adenosine Triphosphatases
  • Calcium-Transporting ATPases