An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

Journal of Clinical Investigation

Volumn 115, Issue 10, 2005, Pages 2822-2831

  Bowl, Michael R ^a   Nesbit, M Andrew ^a   Harding, Brian ^a   Levy, Elaine ^b   Jefferson, Andrew ^b   Volpi, Emanuela ^b   Rizzoti, Karine ^c   Lovell Badge, Robin ^c   Schlessinger, David ^d   Whyte, Michael P ^e,f   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e SHRINERS HOSPITAL FOR CHILDREN   (United States)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; ATP11C GENE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INSERTION; DNA SEQUENCE; EMBRYO DEVELOPMENT; EXPRESSED SEQUENCE TAG; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HYPOPARATHYROIDISM; METAPHASE; MOUSE; NONHUMAN; PARATHYROID DISEASE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOX3 GENE; U7MRNA GENE; X CHROMOSOME LINKED DISORDER;

ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; HIGH MOBILITY GROUP PROTEINS; HUMANS; HYPOPARATHYROIDISM; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MICE; MUTAGENESIS, INSERTIONAL; OPEN READING FRAMES; PARATHYROID GLANDS; PEDIGREE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 26444453686     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI24156     Document Type: Article

References (52)

1. Thakker, R.V. 2004. Genetics of endocrine and metabolic disorders: parathyroid. Rev. Endocr. Metab. Disord. 5:37-51.
2. Baldini, A. 2003. DiGeorge's syndrome: a gene at last. Lancet. 362:1342-1343.
3. 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.
4. Peden, V.H. 1960. True idiopathic hypoparathyroidism as a sex-linked recessive trait. Am. J. Hum. Genet. 12:323-337.
5. Whyte, M.P., and Weldon, V.V. 1981. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J. Pediatr. 99:608-611.
6. Brown, E.M., and MacLeod, R.J. 2001. Extracellular calcium sensing and extracellular calcium signaling. Physiol. Rev. 81:239-297.
7. Thakker, R.V., Davies, K.E., Whyte, M.P., Wooding, C., and O'Riordan, J.L. 1990. Mapping the gene causing X-Hnked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J. Clin. Invest. 86:40-45.
8. Trump, D., et al. 1998. Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. J. Med. Genet. 35:905-909.
9. Nesbit, M.A., et al. 2004. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. Genomics. 84:1060-1070.
10. Mumm, S., Whyte, M.P., Thakker, R.V., Buetow, K.H., and Schlessinger, D. 1997. mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am. J. Hum. Genet. 60:153-159.
11. Whyte, M.P., Kim, G.S., and Kosanovich, M. 1986. Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism [letter]. J. Pediatr. 109:915.
12. Van Esch, H., et al. 2000. GATA3 haplo-insufficiency causes human HDR syndrome. Nature. 406:419-422.
13. Stevanovic, M., Lovell-Badge, R., Collignon, J., and Goodfellow, P.N. 1993. SOX3 is an X-linked gene related to SRY. Hum. Mol. Genet. 2:2013-2018.
14. Kleinjan, D.A., and van Heyningen, V. 2005. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76:8-32.
15. Solomon, N.M., et al. 2004. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J. Med. Genet. 41:669-678.
16. Solomon, N.M., et al. 2002. Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. Genomics. 79:553-559.
17. Woods, K.S., et al. 2005. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituicarism. Am. J. Hum. Genet. 76:833-849.
18. Laumonnier, F., et al. 2002. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am. J. Hum. Genet. 71:1450-1455.
19. Kleinjan, D.J., and van Heyningen, V. 1998. Position effect in human genetic disease. Hum. Mol. Genet. 7:1611-1618.
20. Trump, D., et al. 1996. Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1. Hum. Genet. 97:60-68.
21. Hui, E.K., Wang, P.C., and Lo, S.J. 1998. Strategies for cloning unknown cellular flanking DNA sequences from foreign integrants. Cell. Mol. Life Sci. 54:1403-1411.
22. Proffitt, J., Fenton, J., Pratt, G., Yates, Z., and Morgan, G. 1999. Isolation and characterisation of recombination events involving immunoglobulin heavy chain switch regions in multiple myeloma using long distance vectorette PCR (LDV-PCR). Leukemia. 13:1100-1107.
23. Parker, J.D., and Burmer, G.C. 1991. The oligomer extension "hot blot": a rapid alternative to Southern blots for analyzing polymerase chain reaction products. Biotechniques. 10:94-101.
24. Nesbit, M.A., et al. 2004. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J. Biol. Chem. 279:22624-22634.
25. Kelsell, D.P., et al. 1995. Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping. Ann. Hum. Genet. 59:233-241.
26. Gingrich, J.C., et al. 1996. Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries. Genomics. 32:65-74.
27. Chumakov, I., et al. 1992. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature. 359:380-387.
28. Bochukova, E.G., Jefferson, A., Francis, M.J., and Monaco, A.P. 2003. Genomic studies of gene expression: regulation of the Wilson disease gene. Genomics. 81:531-542.
29. Piluso, G., et al. 2000. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J. Biol. Chem. 275:15851-15860.
30. Frohman, M.A., Dush, M.K., and Martin, G.R. 1988. Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. U. S. A. 85:8998-9002.
31. Grieco, M., et al. 1990. PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell. 60:557-563.
32. Faderl, S., et al. 1999. The biology of chronic myeloid leukemia. N. Engl. J. Med. 341:164-172.
33. Edelmann, L., et al. 2001. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am. J. Hum. Genet. 68:1-13.
34. Aviram-Goldring, A., et al. 2000. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am. J. Med. Genet. 91:74-82.
35. Albrecht, D.E., and Froehner, S.C. 2002. Syntrophins and dystrobrevins: defining the dystrophin scaffold at synapses. Neurosignals. 11:123-129.
36. Kachinsky, A.M., Froehner, S.C., and Milgram, S.L. 1999. A PDZ-containing scaffold related to the dystrophin complex at the basolateral membrane of epithelial cells. J. Cell Biol. 145:391-402.
37. Hogan, A., et al. 2001. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions. J. Biol. Chem. 276:26526-26533.
38. Oak, S.A., Russo, K., Petrucci, T.C., and Jarrett, H.W. 2001 Mouse alpha1-syntrophin binding to Grb2: further evidence of a role for syntrophin in cell signaling. Biochemistry. 40:11270-11278.
39. Kornau, H.C., Schenker, L.T., Kennedy, M.B., and Seeburg, P.H. 1995. Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95. Science. 269:1737-1740.
40. Scambler, P.J. 2000. The 22q11 deletion syndromes. Hum. Mol. Genet. 9:2421-2426.
41. Rizroti, K., et al. 2004. SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat. Genet. 36:247-255.
42. Collignon, A., et al. 1996. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development. 122:509-520.
43. Zorn, A.M., et al. 1999. Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin. Mol. Cell. 4:487-498.
44. Koster, R.W., Kuhnlein, R.P., and Wittbrodt, J. 2000. Ectopic Sox3 activity elicits sensory placode formation. Mech. Dev. 95:175-187.
45. Schlosser, G., and Ahrens, K. 2004. Molecular anatomy of placode development in Xenopus laevis. Dev. Biol. 271:439-466.
46. Brunelli, S., Silva Casey, E., Bell, D., Harland, R., and Lovell-Badge, R. 2003. Expression of Sox3 throughout the developing central nervous system is dependent on the combined action of discrete, evolutionarily conserved regulatory elements. Genesis. 36:12-24.
47. Uchikawa, M., Ishida, Y., Takemoto, T., Kamachi, Y., and Kondoh, H. 2003. Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals. Dev. Cell. 4:509-519.
48. Kiernan, A.E., et al. 2005. Sox2 is required for sensory organ development in the mammalian inner ear. Nature. 434:1031-1035.
49. Berta, P., et al. 1990. Genetic evidence equating SRY and the testis-determining factor. Nature. 348:448-450.
50. Hui, E.K., Wang, P.C., and Lo, S.J. 1998. Strategies for cloning unknown cellular flanking DNA sequences from foreign integrants. Cell. Mol. Life Sci. 54:1403-1411.
51. Carter, N.P., et al. 1990. Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. Cytometry. 11:202-207.
52. Schaeren-Wiemers, N., and Gerfin-Moser, A. 1993. A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes. Histochemistry. 100:431-440