Transcription factor GATA3 and the human HDR syndrome

Citation
H. Van Esch et K. Devriendt, Transcription factor GATA3 and the human HDR syndrome, CELL MOL L, 58(9), 2001, pp. 1296-1300
Citations number
45
Language
INGLESE
art.tipo
Review
Categorie Soggetti
Cell & Developmental Biology
Journal title
CELLULAR AND MOLECULAR LIFE SCIENCES
ISSN journal
1420-682X → ACNP
Volume
58
Issue
9
Year of publication
2001
Pages
1296 - 1300
Database
ISI
SICI code
1420-682X(200108)58:9<1296:TFGATH>2.0.ZU;2-H
Abstract
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafnes s and renal anomalies (HDR) syndrome. Deletion-mapping studies and subseque nt mutation analysis revealed that haploinsufficiency for GATA3 is the unde rlying mechanism of the HDR syndrome. Here we discuss the clinical characte ristics of the HDR syndrome and present an overview of the role of GATA3 an d related GATA-binding transcription factors during vertebrate embryonic de velopment and their involvement in human disease.