GATA-Bindungsprotein 3
Das Trasnkriptionsprodukt des GATA3-Gens ist ein Zink-Finger-Transkriptionsfaktor. Trunkierende Mutationen sind für die autosomal dominante Erkrankung HDRS verantwortlich (Hypoparathyreoidismus mit Innenohrschwerhörigkeit und renaler Dysplasie)
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.
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2. |
Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
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3. |
Hernández AM et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
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4. |
Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.
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5. |
Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.
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6. |
Fields PE et al. (2002) Cutting edge: changes in histone acetylation at the IL-4 and IFN-gamma loci accompany Th1/Th2 differentiation.
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7. |
Lim KC et al. (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system.
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8. |
Tong Q et al. (2000) Function of GATA transcription factors in preadipocyte-adipocyte transition.
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9. |
Kaufman CK et al. (2003) GATA-3: an unexpected regulator of cell lineage determination in skin.
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10. |
Pai SY et al. (2003) Critical roles for transcription factor GATA-3 in thymocyte development.
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11. |
Nesbit MA et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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12. |
van der Wees J et al. (2004) Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder.
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13. |
Zhu J et al. (2004) Conditional deletion of Gata3 shows its essential function in T(H)1-T(H)2 responses.
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14. |
Hwang ES et al. (2005) T helper cell fate specified by kinase-mediated interaction of T-bet with GATA-3.
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15. |
Chiu WY et al. (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.
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16. |
Chen GY et al. (2006) Interaction of GATA-3/T-bet transcription factors regulates expression of sialyl Lewis X homing receptors on Th1/Th2 lymphocytes.
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17. |
Kouros-Mehr H et al. (2006) GATA-3 maintains the differentiation of the luminal cell fate in the mammary gland.
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18. |
Ali A et al. (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
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19. |
Marine J et al. (1991) The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements.
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20. |
Joulin V et al. (1991) A T-cell specific TCR delta DNA binding protein is a member of the human GATA family.
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21. |
Pandolfi PP et al. (1995) Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis.
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22. |
Siegel MD et al. (1995) Activation of the interleukin-5 promoter by cAMP in murine EL-4 cells requires the GATA-3 and CLE0 elements.
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23. |
Labastie MC et al. (1994) Structure and expression of the human GATA3 gene.
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24. |
Copeland NG et al. (1993) A genetic linkage map of the mouse: current applications and future prospects.
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25. |
Zheng W et al. (1997) The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells.
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26. |
Zhang DH et al. (1997) Transcription factor GATA-3 is differentially expressed in murine Th1 and Th2 cells and controls Th2-specific expression of the interleukin-5 gene.
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27. |
Zhang DH et al. (1998) Differential responsiveness of the IL-5 and IL-4 genes to transcription factor GATA-3.
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28. |
Nakamura Y et al. (1999) Gene expression of the GATA-3 transcription factor is increased in atopic asthma.
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29. |
Orphanet article
Orphanet ID 122033 [^]
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30. |
NCBI article
NCBI 2625 [^]
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31. |
OMIM.ORG article
Omim 131320 [^]
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Update: 9. Mai 2019