Identification and functional analysis of novel calcium sensing receptor gene mutation in familial hypocalciuric hypercalcemia

Endocrine Journal

Volumn 57, Issue 9, 2010, Pages 787-792

  Nanjo, Kazuhiro ^a   Nagai, So ^a   Shimizu, Chikara ^b   Tajima, Toshihiro ^a   Kondo, Takuma ^a   Miyoshi, Hideaki ^a   Yoshioka, Narihito ^a   Koike, Takao ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HOKKAIDO UNIVERSITY HOSPITAL   (Japan)

Author keywords

Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Mapk signaling pathway

Indexed keywords

CALCIUM ION; CALCIUM SENSING RECEPTOR; GENOMIC DNA; MITOGEN ACTIVATED PROTEIN KINASE; PARATHYROID HORMONE;

ADULT; ARTICLE; CALCIUM SIGNALING; CASE REPORT; CELL STRAIN HEK293; CELL SURFACE; CONTROLLED STUDY; DNA ISOLATION; ENZYME ACTIVATION; EXPRESSION VECTOR; EXTRACELLULAR CALCIUM; FALILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE CONSTRUCT; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPOCALCIURIA; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; SITE DIRECTED MUTAGENESIS; TRANSIENT EXPRESSION;

ADULT; CALCIUM; FEMALE; HEK293 CELLS; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; MALE; MIDDLE AGED; PEDIGREE; RECEPTORS, CALCIUM-SENSING; TRANSFECTION;

EID: 77957739760     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K10E-178     Document Type: Article

References (18)

1. D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN. (2002) Identification and Functional Characterization of Novel Calcium-Sensing Receptor Mutations in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia. J Clin Endocrinol Metab 87: 1309-1318.
2. Geoffrey N. (2009) Calcium-Sensing Receptor and Associated Diseases. In Ya-Xiong Tao (ed) Progress in Molecular Biology and Translational Science 89: 31-95.
3. Law Jr WM, Heath 3rd H. (1985) Fmilial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Ann Intern Med 102: 511-519.
4. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs Jr RW, Lasker RD. (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 60: 397-412.
5. Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med 306: 257-264.
6. Martin R. Pollak, Yah-Huei Wu Chou, Stephen J. Marx, Beat Steinmann, David E. C. Cole, Maria Luisa Brandi, Socrates E. Papapoulos, Fred H. Menko, Geoggrey N. Hendy, Edward M. Brown, Christine E. Seidman, J. G. Seidman. (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93: 1108-1112.
7. Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr. (1996) Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5: 601-606
8. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor gene. N Engl J Med 335: 1115-1122.
9. O'Hara PJ, Sheppard PO, Thøgersen H, Venezia D, Haldeman BA, McGrane V, Houamed KM, Thomsen C, Gilbert TL, Mulvihill ER. (1993) The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins. Neuron 11: 41-52.
10. Kunishima N, Shimada Y, Tsuji Y, Sato T, Yamamoto M, Kumasaka T, Nakanishi S, Jingami H, Morikawa K. (2000) Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor. Nature 407: 971-977.
11. Hu J, Spiegel AM. (2007) Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators. J Cell Mol Med 11: 908-922.
12. Bai M. (2004) Structure-function relationship of the extracellular calcium-sensing receptor. Cell Calcium 35: 197-207.
13. Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN. (2007) Identification and functional characterization of a novel mutation in the calcium-sensing receptor in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab 92: 2616-2623.
14. Wellendorph P, Brauner-Osborne H. (2009) Molecular basis for amino acid sensing by family C G-proteincoupled receptors. Brit J Pharmacol 156: 869-884.
15. Silve C, Petrel C, Leroy C, Bruel H, Mallet E, Rognan D, Ruat M. (2005) Delineationg a Ca2+ binding pocket within the Venus Flytrap Module of the human calcium-sensing receptor. J Biol Chem 280: 37917-37923.
16. Huang Y, Zhou Y, Castiblanco A, Yang W, Brown EM, Yang JJ. (2009) Multiple Ca2+-binding sites in the extracellular domain of the Ca2+-sensing receptor corresponding to cooperative Ca2+ response. Biochemistry 48: 388-398.
17. Ward DT. (2004) Calcium receptor-mediated intracellular signaling. Cell Calcium 35: 217-228.
18. Zhang Z, Qiu W, Quinn SJ, Conigrave AD, Brown EM, Bai M. (2002) Three Adjacent Serines in the Extracellular Domains of the CaR Are Required for L-Amino Acid-mediated Potentiation of Receptor Function. J Biol Chem 277: 33727-33735.