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Titolo:
A NOVEL ALLELIC VARIANT OF THE HUMAN SEROTONIN TRANSPORTER GENE REGULATORY POLYMORPHISM
Autore:
DELBRUCK SJW; WENDEL B; GRUNEWALD I; SANDER T; MORRISROSENDAHL D; CROCQ MA; BERRETTINI WH; HOEHE MR;
Indirizzi:
MAX DELBRUCK CTR MOL MED,ROBERT ROSSLE STR 10 D-13122 BERLIN GERMANY MAX DELBRUCK CTR MOL MED D-13122 BERLIN GERMANY FREE UNIV BERLIN,DEPT PSYCHIAT D-1000 BERLIN GERMANY UNIV FREIBURG,INST HUMAN GENET & ANTHROPOL FREIBURG GERMANY CTR HOSP,FORENAP ROUFFACH FRANCE THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,DEPT PSYCHIAT & HUMAN BEHAV PHILADELPHIA PA 19107
Titolo Testata:
Cytogenetics and cell genetics
fascicolo: 3-4, volume: 79, anno: 1997,
pagine: 214 - 220
SICI:
0301-0171(1997)79:3-4<214:ANAVOT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN INSULIN GENE; SCANS DNA-SEQUENCES; IMIPRAMINE BINDING; TRANSCRIPTIONAL ELEMENTS; COMPUTER-PROGRAM; RECEPTOR LOCUS; REGION; SUSCEPTIBILITY; MINISATELLITE; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
S.J.W. Delbruck et al., "A NOVEL ALLELIC VARIANT OF THE HUMAN SEROTONIN TRANSPORTER GENE REGULATORY POLYMORPHISM", Cytogenetics and cell genetics, 79(3-4), 1997, pp. 214-220

Abstract

Allelic variation of the human serotonin transporter gene (SLC6A4) has recently been shown to modulate anxiety-related traits. A tandemly repeated sequence in close proximity to the promoter was found to be represented by a long (L) and short (S) variant, differentially modulating gene expression in vitro. Specifically, allele S, generated by a deletion of 44 bp involving repeats VI to VIII, reduced transcriptional efficiency, gene expression, and 5-hydroxytryptamine uptake and was associated with increased neuroticism scores. We have now identified a novel allelic variant of this promoter-linked polymorphism that is significantly larger than the L allele and which we have designated alleleXL (for ''extra large''). Sequence analysis revealed that XL arose through duplication of an internal segment composed of repeat elements VI to IX, comprising 85 bp in total, and, most notably, including the segments deleted in the S allele. Additional allelic variants larger than human allele L were observed predominantly in various nonhuman primates. Preliminary data indicated that these variable allelic extensions similarly originate from this specific repeat region. These allelic variants may serve as a valuable model system to further elucidate therelationship between repeat structure, regulatory properties, and behavioral correlates. Finally, allelic variants were found to vary significantly among different human populations, with allele XL being uniquely present in individuals of African origin, allele L most frequent in Africans and Caucasians of Western European descent, and allele S most abundant in East Asians.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/20 alle ore 08:22:03