Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 4, 2005, Pages 2445-2450

  Zahirieh, Alireza ^a   Nesbit, M Andrew ^b   Ali, Asif ^b   Wang, Kairong ^a   He, Ning ^a   Stangou, Maria ^c   Bamichas, Gerasimos ^c   Sombolos, Kostas ^c   Thakker, Rajesh V ^b   Pei, York ^a,d  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c G PAPANICOLAOU HOSPITAL   (Greece)

^d NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN FOG; TRANSCRIPTION FACTOR GATA 3; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 1; DNA BINDING PROTEIN; GATA3 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN;

ADOLESCENT; ADULT; AGED; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DNA BINDING; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE STRUCTURE; HEARING LOSS; HETEROZYGOSITY; HUMAN; HYPOPARATHYROIDISM; IN VITRO STUDY; KIDNEY DYSPLASIA; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR MODEL; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; GENETICS; HEARING IMPAIRMENT; KIDNEY; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; SYNDROME; TWO HYBRID SYSTEM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; DEAFNESS; DNA-BINDING PROTEINS; GATA3 TRANSCRIPTION FACTOR; HUMANS; HYPOPARATHYROIDISM; KIDNEY; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME; TRANS-ACTIVATORS; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 20244388392     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1969     Document Type: Conference Paper

References (19)

1. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P 1992 Autosomal dominant familial hypoparathyroidism, sensorineural deafness and renal dysplasia. N Engl J Med 327: 1069-1074
2. McKusick VA 1998 Mendelian inheritance in man: a catalog of human genes and genetic disorders. Baltimore: Johns Hopkins University Press
3. Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y 1997 HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 73:416-418
4. Van der Wees J, Van Looij MA, De Ruiter MM, Elias H, Van del Burg H, Liem SS, Kurek D, Engel JD, Karis A, Van Zanten BG, De Zeeuw CI, Grosveld FG, Van Doorninck JH 2004 Hearing loss following GATA3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis 16:169-178
5. Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T 2001 GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38:374-380
6. Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, Togari H, Wada Y 1999 Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet 86:427-429
7. Van Esch H, Devriendt K 2001 Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci 58:1296-1300
8. 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 2000 GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406:419-422
9. George KM, Leonard MW, Roth ME, Lieuw KH, Kioussis D, Grosveld F, Engel JD 1994 Embryonic expression and cloning of the murine GATA-3 gene. Development 120:2673-2686
10. Debacker C, Catala M, Labastie MC 1999 Embryonic expression of the human GATA-3 gene. Mech Dev 85:183-187
11. Orkin SH 1992 GATA-binding transcription factors in hematopoietic cells. Blood 80:575-581
12. Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV 2004 Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 279:22624-22634
13. Trainor CD, Ghirlando R, Simpson MA 2000 GATA zinc finger interactions modulate DNA binding and transactivation. J Biol Chem 275:28157-28166
14. Seidman JG, Seidman C 2002 Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 109:451-455
15. Chien CT, Bartel PL, Sternglanz R, Fields S 1991 The two-hybrid system: a method to identify and clone genes for proteins that interact with a protein of interest. Proc Natl Acad Sci USA 88:9578-9582
16. Louvet O, Doignon F, Crouzet M 1997 Stable DNA-binding yeast vector allowing high-bait expression for use in the two-hybrid system. Biotechniques 23:816-818
17. Gietz RD, Schiestl RH, Willems AR, Woods RA 1995 Studies on the transformation of intact yeast cells by the LiAc/SS-DNA/PEG procedure. Yeast 11:355-360
18. Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH 2002 X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 100:2040-2045
19. Fox AH, Liew C, Holmes M, Kowalski K, Mackay J, Crossley M 1999 Transcriptional cofactors of the FOG family interact with GATA proteins by means of multiple zinc fingers. EMBO J 18:2812-2822