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Titolo:
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms
Autore:
Duga, S; Solda, G; Asselta, R; Bonati, MT; Dalpra, L; Malcovati, M; Tenchini, ML;
Indirizzi:
Univ Milan, Dipartimento Biol & Genet Sci Med, I-20133 Milan, Italy Univ Milan Milan Italy I-20133 iol & Genet Sci Med, I-20133 Milan, Italy
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 11, volume: 46, anno: 2001,
pagine: 640 - 648
SICI:
1434-5161(2001)46:11<640:COTGSO>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRONTAL-LOBE EPILEPSY; MESSENGER-RNA; ALPHA-3 SUBUNIT; PARKINSONS-DISEASE; BINDING-SITES; EXPRESSION; TRANSCRIPTION; FAMILY; LOCUS; NOMENCLATURE;
Keywords:
CHRNA5/A3/B4 gene cluster; human neuronal nicotinic acetylcholine receptor (nAChR); genomic structure; tail-to-tail overlap; autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); polymorphisms;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Tenchini, ML Univ Milan, Dipartimento Biol & Genet Sci Med, Via Viotti 3-5, I-20133 Milan, Italy Univ Milan Via Viotti 3-5 Milan Italy I-20133 3 Milan, Italy
Citazione:
S. Duga et al., "Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms", J HUM GENET, 46(11), 2001, pp. 640-648

Abstract

Genes coding for the alpha5, alpha3, and beta4 subunits (CHRNA5, CHRNA3, and CHRNB4) of the neuronal nicotinic acetylcholine receptors (nAChRs) are clustered on chromosome 15q24. Linkage of this chromosomal region to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), an idiopathic partialepilepsy, was reported in one family. Moreover, mutations in other neuronal nAChR subunit genes coding for the alpha4 (CHRNA4) and the beta2 (CHRNB2)subunits were associated with ADNFLE. Apart from the exon-intron structureof CHRNA3, the genomic organization of this gene cluster was unknown, making comprehensive mutational analyses impossible. The genomic structure of CHRNA5 and CHRNB4 is here reported. Moreover, two hitherto unknown introns were identified within the 3' untranslated region of CHRNA3, causing a partial tail-to-tail overlap with CHRNA5. Four novel intragenic polymorphisms were identified and characterized in the cluster.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 03:42:32