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Titolo:
Human huntingtin-associated protein (HAP-1) gene: genomic organisation andan intragenic polymorphism
Autore:
Nasir, J; Lafuente, MJ; Duan, K; Colomer, V; Engelender, S; Ingersoll, R; Margolis, RL; Ross, CA; Hayden, MR;
Indirizzi:
Western Gen Hosp, Mol Med Ctr, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland Johns Hopkins Univ, Sch Med, Dept Psychiat, Mol Neurobiol Lab, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 ol Lab, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Neurosci, Mol Neurobiol Lab, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 ol Lab, Baltimore, MD 21205 USA Univ British Columbia, CMMT, Dept Med Genet, Vancouver, BC V5Z 4H4, CanadaUniv British Columbia Vancouver BC Canada V5Z 4H4 ver, BC V5Z 4H4, Canada
Titolo Testata:
GENE
fascicolo: 1-2, volume: 254, anno: 2000,
pagine: 181 - 187
SICI:
0378-1119(20000822)254:1-2<181:HHP(GG>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
REPEAT NEURODEGENERATIVE DISEASES; PROGRESSIVE SUPRANUCLEAR PALSY; EXPANSION; SEQUENCES; HOMOLOG; BRAIN; LOCALIZATION; INCLUSIONS; INTERACTS; INSIGHTS;
Keywords:
genomic organisation; HAP-1 gene; Huntington disease; PSP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Nasir, J Western Gen Hosp, Mol Med Ctr, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH42XU Scotland
Citazione:
J. Nasir et al., "Human huntingtin-associated protein (HAP-1) gene: genomic organisation andan intragenic polymorphism", GENE, 254(1-2), 2000, pp. 181-187

Abstract

The huntingtin-associated protein (HAP-1) interacts with the Huntington disease gene product, huntingtin. It is predominantly expressed in the brain and shows an increased affinity for mutant huntingtin. We have sequenced an18,656 bp genomic region encompassing the entire human MAP-1 gene and determined its genomic organisation, with 11 exons spanning 12.1 kb. We have also found an intragenic polymorphism within intron 6 of HAP-I. We have recently shown that HAP-1 maps to a region of the genome which has been implicated in a variety of neurological conditions, including progressive supranuclear palsy (PSP), a late-onset atypical parkinsonian disorder. The detailed characterisation of the genomic organisation of HAP-1 and the presence of an intragenic polymorphism will be helpful in evaluating its role in different disorders, using candidate gene approaches. (C) 2000 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 23:13:29