Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite
Autore:
Albanese, V; Biguet, NF; Kiefer, H; Bayard, E; Mallet, J; Meloni, R;
Indirizzi:
Hop La Pitie Salpetriere, Lab Genet Neurotransmiss, CNRS, UMR C9923, F-75013 Paris, France Hop La Pitie Salpetriere Paris France F-75013 923, F-75013 Paris, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 17, volume: 10, anno: 2001,
pagine: 1785 - 1792
SICI:
0964-6906(20010815)10:17<1785:QEOGSB>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYROSINE-HYDROXYLASE GENE; HIGH-EFFICIENCY TRANSFORMATION; MOLECULAR-CLONING; FIRST-INTRON; TRANSCRIPTION; ASSOCIATION; CELLS; REPEAT; YEAST; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Mallet, J Hop La Pitie Salpetriere, Lab Genet Neurotransmiss, CNRS, UMR C9923, 83 Blvd Hop, F-75013 Paris, France Hop La Pitie Salpetriere 83 Blvd Hop Paris France F-75013 rance
Citazione:
V. Albanese et al., "Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite", HUM MOL GEN, 10(17), 2001, pp. 1785-1792

Abstract

Microsatellites are common repeated sequences, which are useful as geneticmarkers and lack any clearly established function. In a previous study we suggested that an intronic polymorphic TCAT repeat in the tyrosine hydroxylase (TH) gene, the microsatellite HUMTH01, may regulate transcription. The TH gene encodes the rate-limiting enzyme in the synthesis of catecholamines, and the microsatellite HUMTH01 has been used in genetic studies of neuropsychiatric and cardiovascular diseases, in which disturbances of catecholaminergic neurotransmission have been implicated. HUMTH01 alleles associated with these diseases act as transcriptional enhancers when linked to a minimal promoter and are recognized by specific nuclear factors. Here we show that allelic variations of HUMTH01 commonly found in humans have a quantitative silencing effect on TH gene expression. Two specific proteins, ZNF191, azinc finger protein, and HBP1, an HMG box transcription factor, which bindthe TCAT motif, were then cloned. Finally, allelic variations of HUMTH01 correlate with quantitative and qualitative changes in the binding by ZNF191. Thus, this repeated sequence may contribute to the control of expression of quantitative genetic traits. As the HUMTH01 core motif is ubiquitous in the genome, this phenomenon may be relevant to the quantitative expression of many genes in addition to TH.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 06:30:17