Document Detail


cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7.
MedLine Citation:
PMID:  2037293     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 low-density 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.
Authors:
S L Hofmann; M Topham; C L Hsieh; U Francke
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  9     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1991 Apr 
Date Detail:
Created Date:  1991-07-02     Completed Date:  1991-07-02     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  656-69     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/M60051;  M60052;  M61783;  M61784;  M63237;  M63238;  M63239;  M63240;  M63241;  X53080
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Animals
Base Sequence
Calcium-Binding Proteins / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 19*
Cloning, Molecular
DNA
Exons
Humans
Introns
Mice
Molecular Sequence Data
Nucleic Acid Hybridization
Polymerase Chain Reaction
Polymorphism, Genetic
Proteins / genetics*
Rabbits
Sarcoplasmic Reticulum / metabolism*
Sequence Homology, Nucleic Acid
Transcription, Genetic
Grant Support
ID/Acronym/Agency:
GM-26105/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/HRC protein, Oryctolagus cuniculus; 0/Hrc protein, mouse; 0/Proteins; 0/histidine-rich proteins; 139135-52-7/HRC protein, human; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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