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Titolo:
Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis
Autore:
Watanabe, T; Imoto, I; Kosugi, Y; Fukuda, Y; Mimura, J; Fujii, Y; Isaka, K; Takayama, M; Sato, A; Inazawa, J;
Indirizzi:
Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Cytogenet, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ Tokyo Japan 1138519 unkyo Ku, Tokyo 1138519, Japan Fukushima Med Univ, Dept Obstet & Gynecol, Fukushima, Japan Fukushima Med Univ Fukushima Japan t Obstet & Gynecol, Fukushima, Japan Tokyo Med Univ, Dept Obstet & Gynecol, Tokyo, Japan Tokyo Med Univ TokyoJapan ed Univ, Dept Obstet & Gynecol, Tokyo, Japan Tohoku Univ, Grad Sch Sci, Dept Chem, Sendai, Miyagi, Japan Tohoku Univ Sendai Miyagi Japan ch Sci, Dept Chem, Sendai, Miyagi, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 46, anno: 2001,
pagine: 342 - 346
SICI:
1434-5161(2001)46:6<342:HARR(G>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIOXIN RECEPTOR; POSSIBLE INVOLVEMENT; REGULATORY ELEMENTS; CLONING; ARNT; IDENTIFICATION; EXPRESSION; 2,3,7,8-TETRACHLORODIBENZO-P-DIOXIN; MECHANISM; EXPOSURE;
Keywords:
AHRR; AHR; SNPs; endometriosis; dioxin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Inazawa, J Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Cytogenet, BunkyoKu, 1-5-45Yushima, Tokyo 1138519, Japan Tokyo Med & Dent Univ 1-5-45 Yushima Tokyo Japan 1138519 Japan
Citazione:
T. Watanabe et al., "Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis", J HUM GENET, 46(6), 2001, pp. 342-346

Abstract

The diversity of biological effects resulting from exposure to dioxin may reflect the ability of this environmental pollutant to alter gene expression by binding to the arylhydrocarbon receptor (AHR) gene and related genes. AHR function may be regulated by structural variations in AHR itself, in the AHR repressor (AHRR), in the AHR nuclear translocator (ARNT), or in AHR target molecules such as cytochrome P-4501A1 (CYP1A1) and glutathione S-transferase. Analysis of the genomic organization of AHRR revealed an open reading frame consisting of a 2094-bp mRNA encoded by ten exons. We found one novel polymorphism, a substitution of Ala by Pro at codon 185 (GCC to CCC), in exon 5 of the AHRR gene: among 108 healthy unrelated Japanese women, genotypes Ala/Ala, Ala/Pro, and Pro/Pro were represented, respectively, by 20 (18.5%), 49 (45.4%), and 39 (36.1%) individuals. We did not detect previously published polymorphisms of ARNT (D511N) or the CYP1A1 promoter (G-469A and C-459T) in our subjects, suggesting that these polymorphisms are rare inthe Japanese population. No association was found between uterine endometriosis and any polymorphisms in the AHRR, AHR, ARNT, or CYP1A1 genes analyzed in the present study.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/06/20 alle ore 22:22:07