cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7

Sandra L. Hofmann, Matthew Topham, Chih Lin Hsieh, Uta Francke

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Histidine-rich calcium binding protein (HRC) is a luminal sarcoplasmic reticulum (SR) protein of 165 kDa identified by virtue of its ability to bind 125I-labeled lowdensity lipoprotein with high affinity after sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Hofmann et al., J. Biol. Chem. 264: 8260-8270, 1989). Its role in SR function is unknown. In this report, the gene encoding human HRC was localized to human chromosome 19 and mouse chromosome 7 by hybridization of a human HRC cDNA fragment to a panel of somatic cell hybrids. Known synteny between a portion of human chromosome 19 and a portion of mouse chromosome 7 and in situ hybridization of a biotin-labeled HRC probe to human chromosomes suggest a localization to a region corresponding to 19q13.3. The locus for myotonic dystrophy resides in the region 19q13.2-13.3. Therefore, we considered HRC, a muscle-specific gene, to possibly represent a "candidate gene" for myotonic muscular dystrophy. As a first step toward localizing HRC in relation to the myotonic dystrophy locus, we report the cloning of the human HRC gene, its intron-exon organization, and characterization of several informative polymorphisms to be used in future linkage studies in families with myotonic dystrophy. Of particular interest is an Alu-associated poly-d(GA) sequence located in an intron in the middle of the gene, and two stretches of acidic amino acids in the coding region of exon 1 that vary in length among different individuals.

Original languageEnglish (US)
Pages (from-to)656-669
Number of pages14
JournalGenomics
Volume9
Issue number4
DOIs
StatePublished - 1991

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Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 7
Human Chromosomes
Sarcoplasmic Reticulum
Myotonic Dystrophy
Organism Cloning
Complementary DNA
Genes
Proteins
Introns
Exons
Acidic Amino Acids
Synteny
Calcium-Binding Proteins
Muscular Dystrophies
Hybrid Cells
Biotin
Histidine
Sodium Dodecyl Sulfate
Lipoproteins

ASJC Scopus subject areas

  • Genetics

Cite this

cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. / Hofmann, Sandra L.; Topham, Matthew; Hsieh, Chih Lin; Francke, Uta.

In: Genomics, Vol. 9, No. 4, 1991, p. 656-669.

Research output: Contribution to journalArticle

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