Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Human Molecular Genetics

Volumn 19, Issue 10, 2010, Pages 2028-2038

  Bowl, Michael R ^a   Mirczuk, Samantha M ^a   Grigorieva, Irina V ^a   Piret, Sian E ^a   Cranston, Treena ^b   Southam, Lorraine ^c   Allgrove, Jeremy ^d,f   Bahl, Shailini ^e   Brain, Caroline ^f   Loughlin, John ^c,g   Mughal, Zulf ^h   Ryan, Fiona ⁱ   Shaw, Nick ^j   Thakker, Yogini V ^k   Tiosano, Dov ^l   Nesbit, M Andrew ^a   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d ROYAL LONDON HOSPITAL   (United Kingdom)

^e ST PETER S HOSPITAL   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h ST MARY S HOSPITAL   (United Kingdom)

ⁱ JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^j BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^k MILTON KEYNES GENERAL HOSPITAL   (United Kingdom)

^l RAMBAM MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ENHANCED GREEN FLUORESCENT PROTEIN; GLIAL CELLS MISSING HOMOLOG B PROTEIN; LUCIFERASE; PROTEIN GCMB; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CHROMOSOME 6P; CLINICAL ARTICLE; DNA BINDING; DNA SEQUENCE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOPARATHYROIDISM; INDIA; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTANT; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL NUCLEUS; DNA; ENZYME ASSAYS; FAMILY; FEMALE; GENES, RECESSIVE; GENES, REPORTER; HUMANS; HYPOPARATHYROIDISM; LUCIFERASES; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NUCLEAR PROTEINS; ORGAN SPECIFICITY; PARATHYROID GLANDS; PEDIGREE; PROTEIN BINDING; PROTEIN TRANSPORT; TRANSCRIPTION FACTORS;

INVERTEBRATA; VERTEBRATA;

EID: 77952471177     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq084     Document Type: Article

References (40)

1. Thakker, R.V. (2001) Genetic developments in hypoparathyroidism. Lancet, 357, 974-976.
2. Thakker, R.V. (2004) Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium, 35, 275-282.
3. Thakker, R.V. and Juppner, H. (2006) Genetic disorders of calcium homeostasis caused by abnormal regulation of parathyroid hormone secretion or responsiveness. De Groot, L.J. and Jameson, J.L. (eds), Endocrinology., 5th edn. Elsevier, pp. 1511-1531.
4. Marx, S.J. (2000) Hyperparathyroid and hypoparathyroid disorders. N. Engl. J. Med., 343, 1863-1875.
5. Parkinson, D.B. and Thakker, R.V. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat. Genet., 1, 149-152.
6. Sunthornthepvarakul, T., Churesigaew, S. and Ngowngarmratana, S. (1999) A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J. Clin. Endocrinol. Metab., 84, 3792-3796.
7. Arnold, A., Horst, S.A., Gardella, T.J., Baba, H., Levine, M.A. and Kronenberg, H.M. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J. Clin. Invest., 86, 1084-1087.
8. Ding, C., Buckingham, B. and Levine, M.A. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J. Clin. Invest., 108, 1215-1220.
9. Bowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P. et al. (2005) An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J. Clin. Invest., 115, 2822-2831.
10. Nesbit, M.A., Bowl, M.R., Harding, B., Ali, A., Ayala, A., Crowe, C., Dobbie, A., Hampson, G., Holdaway, I., Levine, M.A. et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J. Biol. Chem., 279, 22624-22634.
11. Thomee, C., Schubert, S.W., Parma, J., Le, P.Q., Hashemolhosseini, S., Wegner, M. and Abramowicz, M.J. (2005) GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. J. Clin. Endocrinol. Metab., 90, 2487-2492.
12. Baumber, L., Tufarelli, C., Patel, S., King, P., Johnson, C.A., Maher, E.R. and Trembath, R.C. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J. Med. Genet., 42, 443-448.
13. Canaff, L., Zhou, X., Mosesova, I., Cole, D.E. and Hendy, G.N. (2009) Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. Hum. Mutat., 30, 85-92.
14. Mannstadt, M., Bertrand, G., Muresan, M., Weryha, G., Leheup, B., Pulusani, S.R., Grandchamp, B., Juppner, H. and Silve, C. (2008) Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J. Clin. Endocrinol. Metab., 93, 3568-3576.
15. Akiyama, Y., Hosoya, T., Poole, A.M. and Hotta, Y. (1996) The gcm-motif: a novel DNA-binding motif conserved in Drosophila and mammals. Proc. Natl Acad. Sci. USA, 93, 14912-14916.
16. Cohen, S.X., Moulin, M., Schilling, O., Meyer-Klaucke, W., Schreiber, J., Wegner, M. and Muller, C.W. (2002) The GCM domain is a Zn-coordinating DNA-binding domain. FEBS Lett., 528, 95-100.
17. Schreiber, J., Sock, E. and Wegner, M. (1997) The regulator of early gliogenesis glial cells missing is a transcription factor with a novel type of DNA-binding domain. Proc. Natl Acad. Sci. USA, 94, 4739-4744.
18. Schreiber, J., Enderich, J. and Wegner, M. (1998) Structural requirements for DNA binding of GCM proteins. Nucleic Acids Res., 26, 2337-2343.
19. Basyuk, E., Cross, J.C., Corbin, J., Nakayama, H., Hunter, P., Nait-Oumesmar, B. and Lazzarini, R.A. (1999) Murine Gcm1 gene is expressed in a subset of placental trophoblast cells. Dev. Dyn., 214, 303-311.
20. Hashemolhosseini, S., Hadjihannas, M., Stolt, C.C., Haas, C.S., Amann, K. and Wegner, M. (2002) Restricted expression of mouse GCMa/Gcm1 in kidney and thymus. Mech. Dev., 118, 175-178.
21. Kim, J., Jones, B.W., Zock, C., Chen, Z., Wang, H., Goodman, C.S. and Anderson, D.J. (1998) Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing. Proc. Natl Acad. Sci. USA, 95, 12364-12369.
22. Gunther, T., Chen, Z.F., Kim, J., Priemel, M., Rueger, J.M., Amling, M., Moseley, J.M., Martin, T.J., Anderson, D.J. and Karsenty, G. (2000) Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature, 406, 199-203.
23. Maret, A., Ding, C., Kornfield, S.L. and Levine, M.A. (2008) Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. J. Clin. Endocrinol. Metab., 93, 1426-1432. 24.
24. Hashemolhosseini, S. and Wegner, M. (2004) Impacts of a new transcription factor family: mammalian GCM proteins in health and disease. J. Cell Biol., 166, 765-768.
25. Cohen, S.X., Moulin, M., Hashemolhosseini, S., Kilian, K., Wegner, M. and Muller, C.W. (2003) Structure of the GCM domain-DNA complex: a DNA-binding domain with a novel fold and mode of target site recognition. EMBO J., 22, 1835-1845.
26. Sticht, H. and Hashemolhosseini, S. (2006) A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. Med. Hypotheses, 67, 482-487.
27. Gaynor, K.U., Grigorieva, I.V., Nesbit, M.A., Cranston, T., Gomes, T., Gortner, L. and Thakker, R.V. (2009) A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal Dysplasia syndrome. J. Clin. Endocrinol. Metab., 94, 3897-3904.
28. Benzer, S. (1961) On the topography of the genetic fine structure. Proc. Natl Acad. Sci. USA, 47, 403-415.
29. Ripley, L.S. (1982) Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc. Natl Acad. Sci. USA, 79, 4128-4132.
30. Bebenek, K. and Kunkel, T.A. (2000) Streisinger revisited: DNA
31. Kunkel, T.A. (1985) The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations. J. Biol. Chem., 260, 5787-5796.
32. Kunkel, T.A. and Soni, A. (1988) Mutagenesis by transient misalignment. J. Biol. Chem., 263, 14784-14789.
33. Tuerk, E.E., Schreiber, J. and Wegner, M. (2000) Protein stability and domain topology determine the transcriptional activity of the mammalian glial cells missing homolog, GCMb. J. Biol. Chem., 275, 4774-4782.
34. Pan, X., Ohneda, O., Ohneda, K., Lindeboom, F., Iwata, F., Shimizu, R., Nagano, M., Suwabe, N., Philipsen, S., Lim, K.C. et al. (2005) Graded levels of GATA-1 expression modulate survival, proliferation, and differentiation of erythroid progenitors. J. Biol. Chem., 280, 22385-22394.
35. Rosenbauer, F., Koschmieder, S., Steidl, U. and Tenen, D.G. (2005) Effect of transcription-factor concentrations on leukemic stem cells. Blood, 106, 1519-1524.
36. Stacey, J.M., Turner, J.J., Harding, B., Nesbit, M.A., Kotanko, P., Lhotta, K., Puig, J.G., Torres, R.J. and Thakker, R.V. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. J. Clin. Endocrinol. Metab., 88, 464-470.
37. Kennedy, A.M., Inada, M., Krane, S.M., Christie, P.T., Harding, B., Lopez-Otin, C., Sanchez, L.M., Pannett, A.A., Dearlove, A., Hartley, C. et al. (2005) MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). J. Clin. Invest., 115, 2832-2842.
38. Bradley, K.J., Bowl, M.R., Williams, S.E., Ahmad, B.N., Partridge, C.J., Patmanidi, A.L., Kennedy, A.M., Loh, N.Y. and Thakker, R.V. (2007) Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal. Oncogene, 26, 1213-1221.
39. Tatusova, T.A. and Madden, T.L. (1999) BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol. Lett., 174, 247-250.
40. Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1, 25-dihydroxyvitamin D