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Titolo:
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, isa new member of the Mlx transcription factor network
Autore:
Cairo, S; Merla, G; Urbinati, F; Ballabio, A; Reymond, A;
Indirizzi:
Telethon Inst Genet & Med, Milan, Italy Telethon Inst Genet & Med Milan Italy on Inst Genet & Med, Milan, Italy Univ Vita & Salute, Milan, Italy Univ Vita & Salute Milan ItalyUniv Vita & Salute, Milan, Italy Univ Bologna, Fac Med, Div Biotechnol, Bologna, Italy Univ Bologna Bologna Italy gna, Fac Med, Div Biotechnol, Bologna, Italy
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 6, volume: 10, anno: 2001,
pagine: 617 - 627
SICI:
0964-6906(20010315)10:6<617:WAGMTT>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUPRAVALVULAR AORTIC-STENOSIS; C-MYC; CELL-CYCLE; INDUCED-DIFFERENTIATION; BHLHZIP PROTEIN; POINT MUTATIONS; GROWTH-FACTOR; MAX; EXPRESSION; BINDING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
61
Recensione:
Indirizzi per estratti:
Indirizzo: Reymond, A Univ Geneva, Sch Med, CMU, Div Med Genet, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland Univ Geneva 1 Rue Michel Servet Geneva Switzerland 4 itzerland
Citazione:
S. Cairo et al., "WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, isa new member of the Mlx transcription factor network", HUM MOL GEN, 10(6), 2001, pp. 617-627

Abstract

Williams-Beuren syndrome (WBS) is a developmental disorder associated withhaploinsufficiency of multiple genes at 7q11.23. Here, we report the functional characterization of WBS critical region gene 14 (WBSCR14), a gene contained in the WBS commonly deleted region. It encodes a basic-helix-loop-helix leucine zipper (bHLHZip) transcription factor of the Myc/Max/Mad superfamily, WBSCR14 is expressed in multiple tissues, including regions of the brain and the intestinal tract. WBSCR14 forms heterodimers with the bHLHZip protein Mix to bind the DNA sequence CACGTG. Like Max, Mlx has no intrinsictranscriptional activity, but its association with Mad1, Mad4 Mnt or WBSCR14 can repress E-box-dependent transcription. Preliminary results suggest apossible role of WBSCR14 in growth control. Our data support the view thatthe Max-like bHLHZip protein, Mix, is a key element of a transcription factor network. We thus suggest that WBSCR14 may contribute to some aspects ofthe WBS pathology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 07:17:26