Linked Life Data

11592818

Source:http://linkedlifedata.com/resource/pubmed/id/11592818

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2001-10-10
pubmed:databankReference
pubmed:abstractText
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 disorder displays 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 beta3A 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1096-7192
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Academic Press.
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
217-25
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
pubmed:affiliation
Section on Human Biochemical Genetics, Heritable Disorders Branch, Bethesda, Maryland 20892-1830, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't