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Titolo:
A 30-base-pair element in them first intron of SOX9 acts as an enhancer inATDC5
Autore:
Morishita, M; Kishino, T; Furukawa, K; Yonekura, A; Miyazaki, Y; Kanematsu, T; Yamashita, S; Tsukazaki, T;
Indirizzi:
Nagasaki Univ, Sch Dent, Dept Oral Pathol, Nagasaki 8528588, Japan Nagasaki Univ Nagasaki Japan 8528588 ral Pathol, Nagasaki 8528588, Japan Nagasaki Univ, Sch Med, Dept Nat Med, Nagasaki 8528523, Japan Nagasaki Univ Nagasaki Japan 8528523 pt Nat Med, Nagasaki 8528523, Japan Nagasaki Univ, Sch Med, Dept Surg 2, Nagasaki 8528523, Japan Nagasaki Univ Nagasaki Japan 8528523 ept Surg 2, Nagasaki 8528523, Japan Nagasaki Univ, Sch Med, Dept Human Genet, Atom Bomb Dis Inst, Nagasaki 8528523, Japan Nagasaki Univ Nagasaki Japan 8528523 b Dis Inst, Nagasaki 8528523, Japan
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 2, volume: 288, anno: 2001,
pagine: 347 - 355
SICI:
0006-291X(20011026)288:2<347:A3EITF>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTOSOMAL SEX REVERSAL; CHONDROCYTE-SPECIFIC ENHANCER; BONE MORPHOGENETIC PROTEIN-4; SRY-RELATED GENE; CAMPOMELIC DYSPLASIA; COLLAGEN GENE; CHONDROGENIC DIFFERENTIATION; TRANSLOCATION BREAKPOINTS; CELL-LINE; EC CELLS;
Keywords:
Sox9; first intron; enhancer element; ATDC5; chondrogenesis; sex determination;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Tsukazaki, T Nagasaki Univ, Sch Dent, Dept Oral Pathol, 1-7-1 Sakamoto, Nagasaki 8528588, Japan Nagasaki Univ 1-7-1 Sakamoto Nagasaki Japan 8528588 8, Japan
Citazione:
M. Morishita et al., "A 30-base-pair element in them first intron of SOX9 acts as an enhancer inATDC5", BIOC BIOP R, 288(2), 2001, pp. 347-355

Abstract

SOX9 is a transcription factor that is essential for chondrogenesis and testis differentiation, and haplo-insufficiency of SOX9 causes campomelic dysplasia, severe skeletal malformation syndrome with variably, penetrant XY sex reversal. Here we demonstrate that in several cell lines that express SOX9, 30-bp element in the first intron of human SOX9 gene act as a potentialenhancer in the ATDC5 chondroprogenitor cell line, despite the apparent absence of cell-specific regulatory elements within a 5.5-kb promoter region. Deletion and site-specific mutational analyses reveal that the last 12 bp of the 30-bp element are critical for transcriptional activity, while 5'-half sequences are necessary for full transactivation. Gel retardation assaysindicate the possible involvement of several binding factors along the length of this element., These results suggest that functionally interdependent elements in the 30-bp enhancer region of the first intron account for basal expression levels of Sox9 in ATDC5. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 12:24:06