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Titolo:
Characterization of the human beta 4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4
Autore:
Lev-Lehman, E; Bercovich, D; Xu, W; Stockton, DW; Beaudet, AL;
Indirizzi:
Baylor Coll Med, Dept Human & Mol Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 n & Mol Genet, Houston, TX 77030 USA
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 7, volume: 46, anno: 2001,
pagine: 362 - 366
SICI:
1434-5161(2001)46:7<362:COTHB4>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
NICOTINIC ACETYLCHOLINE-RECEPTORS; MICE LACKING; SUBUNITS; ALPHA-3;
Keywords:
nicotine; smoking; megacystis; pseudoobstruction; SNPs; DHPLC; sequencing;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Beaudet, AL Baylor Coll Med, Dept Human & Mol Genet, 1 Baylor Plaza, Houston, TX 77030USA Baylor Coll Med 1 Baylor Plaza Houston TX USA 77030 X 77030USA
Citazione:
E. Lev-Lehman et al., "Characterization of the human beta 4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4", J HUM GENET, 46(7), 2001, pp. 362-366

Abstract

Most neuronal nicotinic acetylcholine receptors are heteropentamers, composed of a and P subunits. Mice lacking the alpha3 subunit and mice lacking both the beta2 and beta4 subunits, but not mice lacking the beta2 or beta4 subunits alone, have a severe phenotype characterized by megacystis, failureof bladder strips to contract in response to nicotine, widely dilated ocular pupils, growth failure, and perinatal mortality. The deficit in bladder contraction was also found in mice lacking only the beta4 subunit, althoughthey did not develop megacystis. The major bladder phenotype resembles thehuman autosomal recessive disorder of megacystis-microcolon-hypoperistalsis syndrome (MMIHS). Based on the similarity of the mouse and human phenotypes, we initiated mutation analyses in the alpha3 and beta4 genes in MMIHS families. The human gene encoding the beta4 subunit was fully characterized,including refinement of its mapping. Analysis of disease families and controls identified numerous genetic variants, including high-frequency polymorphisms in both CHRNA3 and CHRNB4. Although no loss-of-function mutations have been identified to date, these genes remain strong candidates for involvement in MMIHS, because various mutations might be obscured within the complex cluster of genes. Some of the markers presented here are valuable toolsfor analysis of the role of genetic variation in responses to nicotine andfor characterization of various dysautonomic abnormalities.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/20 alle ore 07:31:30