Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

HDR-Syndrom
GATA3

Referenzen:

1.

Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

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2.

Nakamura Y et al. (1999) Gene expression of the GATA-3 transcription factor is increased in atopic asthma.

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3.

Zhang DH et al. (1998) Differential responsiveness of the IL-5 and IL-4 genes to transcription factor GATA-3.

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4.

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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5.

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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6.

Copeland NG et al. (1993) A genetic linkage map of the mouse: current applications and future prospects.

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7.

Labastie MC et al. (1994) Structure and expression of the human GATA3 gene.

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8.

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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9.

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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10.

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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11.

Marine J et al. (1991) The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements.

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12.

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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13.

Kouros-Mehr H et al. (2006) GATA-3 maintains the differentiation of the luminal cell fate in the mammary gland.

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14.

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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15.

Hwang ES et al. (2005) T helper cell fate specified by kinase-mediated interaction of T-bet with GATA-3.

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16.

Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.

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17.

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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18.

Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.

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19.

Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.

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20.

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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21.

Lim KC et al. (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system.

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22.

Tong Q et al. (2000) Function of GATA transcription factors in preadipocyte-adipocyte transition.

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23.

Kaufman CK et al. (2003) GATA-3: an unexpected regulator of cell lineage determination in skin.

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24.

Pai SY et al. (2003) Critical roles for transcription factor GATA-3 in thymocyte development.

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25.

Nesbit MA et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

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26.

van der Wees J et al. (2004) Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder.

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27.

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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28.

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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29.

Orphanet article

Orphanet ID 122033 external link
30.

NCBI article

NCBI 2625 external link
31.

OMIM.ORG article

Omim 131320 external link
Update: 14. August 2020
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