Localization of familial benign hypercalcemia, Oklahoma variant (FBH(Ok)), to chromosome 19q13

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 189-195

  Lloyd, Sarah E ^a   Pannett, Anna A J ^a   Dixon, Peter H ^a   Whyte, Michael P ^b,c   Thakker, Rajesh V ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b SHRINERS HOSPITAL FOR CHILDREN   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; CALCIUM SENSING RECEPTOR; CALMODULIN; G PROTEIN COUPLED RECEPTOR; METABOTROPIC RECEPTOR; PHEROMONE;

ARTICLE; CALCIUM HOMEOSTASIS; CHROMOSOME 19Q; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; HYPERCALCEMIA; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033366514     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302202     Document Type: Article

References (33)

1. Ashworth LK, Batzer MA, Brandriff B, Branscomb E, de Jong P, Garcia E, Garnes JA, et al (1995) An integrated metric physical map of human chromosome 19. Nat Genet 11: 422-427
2. Bachs O, Agell N, Carafoli E (1994) Calmodulin and calmodulin-binding proteins in the nucleus. Cell Calcium 16: 289-296
3. 2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 99:88-96
4. Berchtold MW, Egli R, Rhyner JA, Hameister H, Strehler EE (1993) Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3. Genomics 16:461-465
5. Birnbaumer M (1995) Mutations and diseases of G protein coupled receptors. J Recept Signal Transduct Res 15: 131-160
6. Brown EM (1997) Mutations in the calcium-sensing receptor and their clinical implications. Horm Res 48:199-208
7. Chou Y-HW, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, et al (1992) The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet 1:295-300
8. Crivici A, Ikura M (1995) Molecular and structural basis of target recognition by calmodulin. Annu Rev Biophys Biomol Struct 24:85-116
9. Durocher F, Morirrette J, Dufort I, Simard J, Luu-The V (1995) Genetic linkage mapping of the dehydroepiandrosterone sulfotransferase (STD) gene on the chromosome 19q13.3 region. Genomics 29:781-783
10. European Consortium on MEN1, The (1997) Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1). Hum Genet 100:657-665
11. Gnegy ME (1995) Calmodulin: effects of cell stimuli and drugs on cellular activation. Prog Drug Res 45:33-65
12. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
13. Heath H III, Jackson CE, Otterud B, Leppert MF (1993) Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 53:193-200
14. 2+-sensing receptor in divalent mineral ion homeostasis. J Exp Biol 200:295-302
15. Herrada G, Dulac C (1997) A novel family of putative pheromone receptors in mammals with a topographically organized and sexually dimorphic distribution. Cell 90: 763-773
16. Hinson TK, Damodaran TV, Chen J, Zhang X, Qumsiyeh MB, Seldin MF, Quarles LD (1997) Identification of putative transmembrane receptor sequences homologous to the calcium-sensing G-protein coupled receptor. Genomics 45: 279-289
17. Kahn J, Walcheck B, Migaki GI, Jutila MA, Kishimoto TK (1998) Calmodulin regulates L-selectin adhesion molecule expression and function through a protease-dependent mechanism. Cell 92:809-818
18. Koller M, Schnyder B, Strehler EE (1990) Structural organization of the human CaMIII calmodulin gene. Biochim Biophys Acta 1087:180-189
19. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, et al (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379: 445-449
20. Matsunami H, Buck LB (1997) A multigene family encoding a diverse array of putative pheromone receptors in mammals. Cell 90:775-784
21. McKusick VA (1998) Hypocalciuric hypercalcemia, familial. In: Mendelian inheritance in man. Johns Hopkins University Press, Baltimore, pp 951-953
22. McMurtry CT, Schranck FW, Walkenhorst DA, Murphy WA, Kocher DB, Teitelbaum SL, Rupich RC, et al (1992) Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med 93:247-258
23. 2+-sensing receptor in Fugu. Proc Natl Acad Sci USA 95:5178-5181
24. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
25. Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV (1996a) Calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia with recurrent pancreatitis. Clin Endocrinol (Oxf) 45:675-680
26. Pearce SHS, Bai M, Quinn SJ, Kifor O, Brown E, Thakker RV (1996b) Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 98:1860-1866
27. Pearce SHS, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barnard N, et al (1996c) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335: 1115-1122
28. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303
29. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, et al (1994) Autosomal dominant hypocalcemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 8:303-307
30. Reed PW, Davis JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, Gough SC, et al (1994) Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping. Nat Genet 7:390-395
31. Rhyner JA, Ottiger M, Wicki R, Greenwood TM, Strehler EE (1994) Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM2P2. Eur J Biochem 225:71-82
32. Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JLH (1990) Mapping of the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 86:40-45
33. Trump D, Whyte MP, Wooding C, Pang JT, Pearce SHS, Kocher DB, Thakker RV (1995) Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH. Hum Genet 96:183-187