TY - JOUR
T1 - cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7
AU - Hofmann, Sandra L.
AU - Topham, Matthew
AU - Hsieh, Chih Lin
AU - Francke, Uta
N1 - Funding Information:
We thank Greg Taylor for expert technical assistance and Dr. David Russell and Dr. Helen Hobbs for many helpful discussions. Dr. Louis Kunkel kindly provided the human skeletal muscle cDNA library and Dr. Helen Hobbs provided human DNA samples. This work was supported by a research grant from the American Heart Association (AHA Squibb Clinician Scientist Award 860412 to S.L.H.), in part by Merck, Inc. and the Nasher Family Foundation, by NIH Research Grant GM-26105 to U.F., and by the Howard Hughes Medical Institute of which U.F. is an investigator and C.-L.H. is an Associate. M.K.T. is a Squibb fellow in the Stanley J. Sarnoff Society of Fellows for Research in Cardiovascular Science.
PY - 1991/4
Y1 - 1991/4
N2 - 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.
AB - 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.
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U2 - 10.1016/0888-7543(91)90359-M
DO - 10.1016/0888-7543(91)90359-M
M3 - Article
C2 - 2037293
AN - SCOPUS:0026080381
SN - 0888-7543
VL - 9
SP - 656
EP - 669
JO - Genomics
JF - Genomics
IS - 4
ER -