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Titolo:
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: Exclusion of the subtle gray (sut) locus
Autore:
Huizing, M; Anikster, Y; White, JG; Gahl, WA;
Indirizzi:
NICHHD, Sect Human Biochem Genet, Heritable Disorders Branch, NIH, Bethesda, MD 20892 USA NICHHD Bethesda MD USA 20892 isorders Branch, NIH, Bethesda, MD 20892 USA Univ Minnesota, Dept Lab Med, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 ab Med, Minneapolis, MN 55455 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 1-2, volume: 74, anno: 2001,
pagine: 217 - 225
SICI:
1096-7192(200109/10)74:1-2<217:COTMGC>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
PALE EAR EP; PROTEIN COMPLEX; GRANULOMATOUS COLITIS; PULMONARY FIBROSIS; VESICLE FORMATION; AP-3 ADAPTER; HPS GENE; MOUSE; MUTATIONS; FORM;
Keywords:
locus heterogeneity; mouse models; oculocutaneous albinism; storage pool deficiency; platelet dense bodies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Gahl, WA NICHHD, NIH, 10 Ctr Dr,MSC 1830,Bldg 10,Room 9S-241, Bethesda, MD20892 USA NICHHD 10 Ctr Dr,MSC 1830,Bldg 10,Room 9S-241 Bethesda MD USA 20892
Citazione:
M. Huizing et al., "Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: Exclusion of the subtle gray (sut) locus", MOL GEN MET, 74(1-2), 2001, pp. 217-225

Abstract

Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism and a bleeding diathesis due to absent platelet dense bodies. In addition to exhibiting considerable phenotypic variation, this autosomal recessive disorderdisplays locus heterogeneity. One causative gene is HPS1, coding for a protein of unknown function and resulting in HPS-1 disease, common in northwest Puerto Rico. A second HPS-causing gene is ADTB3A, coding for the beta 3A subunit of adaptor complex-3 (AP-3, a coat protein complex) and resulting in HPS-2 disease. Each of these HPS subtypes has a murine counterpart, specifically pale ear for HPS-1 and pearl for HPS-2. Recently, the HPS3 gene, responsible for HPS-3 disease in a genetic isolate of central Puerto Rico, was isolated and characterized. Its location on human chromosome 3q24 suggested that the mouse model corresponding to HPS-3 disease might be subtle gray. To examine this possibility, we determined the mouse HPS3 sequence, its genomic organization, and its amino acid sequence, which shares 95.8% identity with the human protein. We demonstrated that the subtle gray mouse produces a normal size and amount of HPS3 mRNA and has an entirely normal sequence in every exon and intron/exon boundary. Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined. (C) 2001 Academic Press.

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Documento generato il 28/02/20 alle ore 20:39:57