Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease
Autore:
Kyo, K; Muto, T; Nagawa, H; Lathrop, GM; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 Genome, Mol Med Lab, Tokyo 1088639, Japan Univ Tokyo, Dept Surg Oncol, Tokyo, Japan Univ Tokyo Tokyo JapanUniv Tokyo, Dept Surg Oncol, Tokyo, Japan Ctr Natl Genotypage, Evry, France Ctr Natl Genotypage Evry FranceCtr Natl Genotypage, Evry, France
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 46, anno: 2001,
pagine: 5 - 20
SICI:
1434-5161(2001)46:1<5:AODVOT>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFLAMMATORY BOWEL-DISEASE; SINGLE-NUCLEOTIDE POLYMORPHISMS; GENOMIC ORGANIZATION; RECOMBINATION RATES; MOLECULAR-CLONING; POPULATION; 3'-REGION; SEQUENCE; PROTEINS; DOMAINS;
Keywords:
MUC3A; MUC3B; ulcerative colitis; Crohn's disease; VNTR; SNP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab, 4-6-1Shirokanedai,Minato Ku, Tokyo 1088639, Japan Univ Tokyo 4-6-1 Shirokanedai,Minato Ku Tokyo Japan 1088639 n
Citazione:
K. Kyo et al., "Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease", J HUM GENET, 46(1), 2001, pp. 5-20

Abstract

Ulcerative colitis (UC) and Crohn's disease Introduction (CD), the major forms of inflammatory bowel diseases (IBDs), are multifactorial disorders ofunknown etiology. We reported a possible association of rare variable number of tandem repeat (VNTR) alleles of the "MUC3" gene with a susceptibilityto UC. However, an entire structure of "MUC3" is still unknown because thelong stretches of tandem repeats in this "gene" make its cloning extraordinarily difficult. In this study, we report evidence that "MUC3" consists oftwo genes, MUC3A and MUC3B, both of which encode membrane-bound mucins with two epidermal growth factor-like motifs, and we describe the complete 3'-terminal structures of these two genes. We have also analyzed the single nucleotide polymorphisms (SNPs) in the exonic sequences of the 3' portions ofthese two genes to investigate whether sequence variations in these regions can cause person-to-person differences in the susceptibility to IBDs, andreport here that non-synonymous SNPs of MUC3A, involving a tyrosine residue with a proposed role in cell signaling, may confer genetic predispositionto CD (P = 0.0132). Our findings suggest that variants of MUC3A may be involved in the occurrence of UC and CD in distinct manners.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:40:33