Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members

European Journal of Endocrinology

Volumn 162, Issue 2, 2010, Pages 407-421

  Tomar, Neeraj ^a   Bora, Hema ^a   Singh, Ratnakar ^a   Gupta, Nandita ^a   Kaur, Punit ^a   Chauhan, Shyam Singh ^a   Sharma, Yagya Dutta ^a   Goswami, Ravinder ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PROTEIN GCM2; TRANSCRIPTION FACTOR; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GCM 2 GENE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPOPARATHYROIDISM; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; RELATIVE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; MALE; NUCLEAR PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PROTEIN STRUCTURE, TERTIARY; TRANSCRIPTION FACTORS;

EID: 75149140577     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0303     Document Type: Article

References (62)

1. Betterle C, Dal Pra C, Mantero F & Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocrine Reviews 2002 23 327-364.
2. Bringhurst FR, Demay MB & Kronenberg HM. Hormones and disorders of mineral metabolism. In Williams Textbook of Endocrinology, edn 11, ch 27, pp 1203-1268. Eds HM Kronenberg, S Melmed, KS Polonsky & PR Larsen. Philadelphia: Sunders Elsevier, 2008.
3. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE & Seidman JG. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nature Genetics 1994 8 303-307.
4. Parkinson DB & Thakker RV. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genetics 1992 1 149-152.
5. Sunthornthepvarakul T, Churesigaew S & Ngowngarmratana S. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism 1999 84 3792-3796.
6. Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D,Whyte MP & Thakker RV. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. Journal of Clinical Investigation 2005 115 2822-2831.
7. de la Chapelle A, Herva R, Koivisto M & Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Human Genetics 1981 57 253-256.
8. Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I & Peltonen L. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. American Journal of Human Genetics 2000 66 378-392.
9. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV & Devriendt K. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000 406 419-422.
10. Li Y, Song YH, Rais N, Connor E, Schatz D, Muir A & Maclaren N. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. Journal of Clinical Investigation 1996 4 910-914.
11. Goswami R, Brown EM, Kochupillai N, Gupta N, Rani R, Kifor O & Chattopadhyay N. Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. European Journal of Endocrinology 2004 150 9-18.
12. Mayer A, Ploix C, Orgiazzi J, Desbos A, Moreira A, Vidal H, Monier JC, Bienvenu J & Fabien N. Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism 2004 89 4484-4488.
13. Shoback D. Clinical practice. Hypoparathyroidism. New England Journal of Medicine 2008 359 391-403.
14. Goswami R, Marwaha RK, Goswami D, Gupta N, Ray D, Tomar N & Singh S. Prevalence of thyroid autoimmunity in sporadic idiopathic hypoparathyroidism in comparison to type 1 diabetes and premature ovarian failure. Journal of Clinical Endocrinology and Metabolism 2006 91 4256-4259.
15. De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM & Baron J. Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca (2+)-sensing receptor. Journal of Clinical Endocrinology and Metabolism 1997 82 2710-2715.
16. Shiohara M, Mori T, Mei B, Brown EM, Watanabe T & Yasuda T. A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. European Journal of Pediatrics 2004 163 94-98.
17. Suprasdngsin C, Wattanachal A & Preeysombat C. Parathyroid hormone gene mutation in patient with hypoparathyroidism. Mahidol University, Bangkok, vol 128, Annual Research Abstract 164, 2001.
18. Goswami R, Mohapatra T, Gupta N, Rani R, Tomar N, Dikshit A & Sharma RK. Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism 2004 89 4840-4845.
19. Sarin R, Tomar N, Ray D, Gupta N, Sharma YD & Goswami R. Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. Clinical Endocrinology 2006 65 359-363.
20. Goswami R, Gupta N, Ray D, Rani R, Tomar N, Sarin R & Vupputuri MR. Polymorphisms at +49 A/G and CT60 sites in the 3′ UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism. International Journal of Immunogenetics 2005 32 393-400.
21. Ray D, Tomar N, Gupta N & Goswami R. Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians. International Journal of Immunogenetics 2006 33 237-240.
22. Ding C, Buckingham B & Levine MA. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. Journal of Clinical Investigation 2001 108 1215-1220.
23. Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER & Trembath RC. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. Journal of Medical Genetics 2005 42 443-448.
24. Thomée C, Schubert SW, Parma J, Lê PQ, Hashemolhosseini S, Wegner M & Abramowicz MJ. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. Journal of Clinical Endocrinology and Metabolism 2005 90 2487-2492.
25. Maret A, Ding C, Kornfield SL & Levine MA. Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. Journal of Clinical Endocrinology and Metabolism 2008 93 1426-1432.
26. Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H & Silve C. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism 2008 93 3568-3576.
27. Canaff L, Zhou X, Mosesova I, Cole DE & Hendy GN. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. Human Mutation 2009 30 85-92.
28. Hosoya T, Takizawa K, Nitta K & Hotta Y. Glial cells missing: a binary switch between neuronal and glial determination in Drosophila. Cell 1995 82 1025-1036.
29. Schreiber J, Riethmacher-Sonnenberg E, Riethmacher D, Tuerk EE, Enderich J, Bösl MR &Wegner M. Placental failure in mice lacking the mammalian homolog of glial cells missing, GCMa. Molecular and Cellular Biology 2000 20 2466-2474.
30. Günther T, Chen ZF, Kim J, Priemel M, Rueger JM, Amling M, Moseley JM, Martin TJ, Anderson DJ & Karsenty G. Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 2000 406 199-203.
31. Kim J, Jones BW, Zock C, Chen Z, Wang H, Goodman CS & Anderson DJ. Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing. PNAS 1998 95 12364-12369.
32. Kebebew E, Peng M, Wong MG, Ginzinger D, Duh QY & Clark OH. GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism. Surgery 2004 136 1261-1266.
33. Goswami R, Srikanta SS & Kochupillai N. Prevalence and significance of pancreatic islet cell and adrenal antibodies in patients with Graves' disease. Indian Journal of Medical Research 1995 101 201-206.
34. Goswami R, Goel S, Tomar N, Gupta N, Lumb V & Sharma YD. Prevalence of clinical remission in patients with sporadic idiopathic hypoparathyroidism. Clinical Endocrinology 2009 (10.1111/j.1365-2265.2009.03653).
35. Goswami R, Marwaha RK, Gupta N, Tandon N, Sreenivas V, Tomar N, Ray D, Kanwar R & Agarwal R. Prevalence of vitamin D deficiency and its relationship with thyroid autoimmunity in Asian Indians: a community-based survey. British Journal of Nutrition 2009 10 1-5.
36. Plasmids and their usefulness in molecular cloning. In Molecular Cloning - A Laboratory Manual, edn 3, ch 1, pp 1.116-1.118. Eds J Sambrook & DW Russell. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.
37. Schreiber J, Enderich J & Wegner M. Structural requirements for DNA binding of GCM proteins. Nucleic Acids Research 1998 26 2337-2343.
38. Cohen SX, Moulin M, Hashemolhosseini S, Kilian K, Wegner M & Müller CW. Structure of the GCM domain-DNA complex: a DNA-binding domain with a novel fold and mode of target site recognition. EMBO Journal 2003 22 1835-1845.
39. Sali A, Potterton L, Yuan F, van Vlijmen H & Karplus M. Evaluation of comparative protein modeling by MODELLER. Proteins 1995 23 318-326.
40. Laskowski RA, MacArthur MW, Moss DS & Thornton JM. PROCHECK: a program to check stereo chemical quality of protein structures. Journal of Applied Crystallography 1993 26 283-291.
41. Laway BA, Goswami R, Singh N, Gupta N & Seith A. Pattern of bone mineral density in patients with sporadic idiopathic hypoparathyroidism. Clinical Endocrinology 2006 64 405-409.
42. Bui M & Liu Z. Simple allele-discriminating PCR for cost-effective and rapid genotyping and mapping. Plant Methods 2009 5 1.
43. Söderbergh A, Myhre AG, Ekwall O, Gebre-Medhin G, Hedstrand H, Landgren E, Miettinen A, Eskelin P, Halonen M, Tuomi T, Gustafsson J, Husebye ES, Perheentupa J, Gylling M, Manns MP, Rorsman F, Kämpe O & Nilsson T. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. Journal of Clinical Endocrinology and Metabolism 2004 89 557-562.
44. Mizobuchi M, Ritter CS, Krits I, Slatopolsky E, Sicard G & Brown AJ. Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells. Journal of Bone and Mineral Research 2009 24 1173-1179.
45. Akiyama Y, Hosoya T, Poole AM & Hotta Y. The gcm-motif: a novel DNA-binding motif conserved in Drosophila and mammals. PNAS 1996 93 14912-14916.
46. Zhao J, Hu Q, Chen Y, Luo S, Bao L & Xu Y. A novel missense mutation in the paired domain of human PAX9 causes oligodontia. American Journal of Medical Genetics 2007 143 2592-2597.
47. Sticht H & Hashemolhosseini S. A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. Medical Hypotheses 2006 67 482-487.
48. van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH & van de Kamp JJ. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 1989 2 1291-1294.
49. Pantakani DV, Zechner U, Arygriou L, Pauli S, Sauter SM & Mannan AU. Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. Clinical Genetics 2008 73 268-272.
50. Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D & Bonne G. Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism? Neurology 2007 68 1883-1894.
51. Goswami R, Ray D, Sharma R, Tomar N, Gupta R, Gupta N & Sreenivas V. Presence of spondyloarthropathy and its clinical profile in patients with hypoparathyroidism. Clinical Endocrinology 2008 68 258-263.
52. Nishihara E, Nagayama Y, Amino N, Hishinuma A, Takano T, Yoshida H, Kubota S, Fukata S, Kuma K & Miyauchi A. A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism. Endocrine Journal 2007 54 927-934.
53. Chang TY, Kuo HC, Hsiao KM & Huang CC. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation. Acta Neurologica Taiwanica 2007 16 214-220.
54. Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M & Tamai M. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. American Journal of Ophthalmology 2005 140 537-540.
55. Chin D, Speiser PW, Imperato-McGinley J, Dixit N, Uli N, David R & Oberfield SE. Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance. Journal of Clinical Endocrinology and Metabolism 1998 83 1940-1945.
56. Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y & Kuttenn F. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 2001 86 207-213.
57. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins SC, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC & Todd JA. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994 371 130-136.
58. Qi L, Hu FB & Hu G. Genes, environment, and interactions in prevention of type 2 diabetes: a focus on physical activity and lifestyle changes. Current Molecular Medicine 2008 8 519-532.
59. Su D, Ellis S, Napier A, Lee K & Manley NR. Hoxa3 and Pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis. Developmental Biology 2001 236 316-329.
60. Peters H, Neubüser A, Kratochwil K & Balling R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes and Development 1998 12 2735-2747.
61. Kameda Y, Arai Y, Nishimaki T & Chisaka O. The role of Hoxa3 gene in parathyroid gland organogenesis of the mouse. Journal of Histochemistry and Cytochemistry 2004 52 641-651.
62. Wurdak H, Ittner LM & Sommer L. DiGeorge syndrome and pharyngeal apparatus development. Bioessays 2006 28 1078-1086.