Linked Life Data

11136552

Source:http://linkedlifedata.com/resource/pubmed/id/11136552

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-1-23
pubmed:abstractText
Hermansky-Pudlak syndrome (HPS) is a recessively inherited disease with dysfunction of several related subcellular organelles including platelet-dense granules, melanosomes, and lysosomes. Our recent identification of the mutation in murine Rab geranylgeranyl transferase alpha-subunit gene (Rabggta) in one mouse model of HPS, the gunmetal mouse, suggested that human patients with similar phenotypes might have mutations in the human orthologous RABGGTA gene. This prompted reanalysis of the 5'-untranslated structure of the human RABGGTA gene in normal individuals and in patients with deficiencies of platelet-dense granules (alphadelta-SPD), alpha granules (alpha-SPD or gray platelet syndrome, GPS) or alpha plus dense granules (alphadelta-SPD). We report the complete sequence of intron alpha of RABGGTA and demonstrate that exon alpha is immediately upstream of intron alpha. The exon/intron structural organization of the 5'-untranslated region (UTR) of human RABGGTA was found to be similar to that of the mouse Rabggta gene. However, exons alpha and introns alpha are not homologous between mouse and human. Features of the 5'-UTR of RABGGTA suggest it is a housekeeping gene. While obvious disease-causing mutations of human RABGGTA were not found in our existing SPD patients by sequencing its entire coding region, several polymorphisms of RABGGTA including a putative cryptic splicing mutation in intron 4 were identified. Knowledge of the 5'-UTR structure of RABGGTA and its common polymorphisms will be useful for mutation screening or linkage analysis in patients with albinism, thrombocytopenia, or platelet SPD.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1096-7192
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Academic Press.
pubmed:issnType
Print
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
599-608
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:11136552-5' Untranslated Regions, pubmed-meshheading:11136552-Alkyl and Aryl Transferases, pubmed-meshheading:11136552-Animals, pubmed-meshheading:11136552-Base Sequence, pubmed-meshheading:11136552-Cloning, Molecular, pubmed-meshheading:11136552-DNA Mutational Analysis, pubmed-meshheading:11136552-Disease Models, Animal, pubmed-meshheading:11136552-Exons, pubmed-meshheading:11136552-Genetic Testing, pubmed-meshheading:11136552-Humans, pubmed-meshheading:11136552-Introns, pubmed-meshheading:11136552-Lysosomes, pubmed-meshheading:11136552-Melanosomes, pubmed-meshheading:11136552-Mice, pubmed-meshheading:11136552-Molecular Sequence Data, pubmed-meshheading:11136552-Mutation, pubmed-meshheading:11136552-Organelles, pubmed-meshheading:11136552-Platelet Storage Pool Deficiency, pubmed-meshheading:11136552-Polymorphism, Single Nucleotide, pubmed-meshheading:11136552-Protein Subunits, pubmed-meshheading:11136552-RNA Splice Sites, pubmed-meshheading:11136552-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:11136552-Syndrome, pubmed-meshheading:11136552-Transcription, Genetic
pubmed:year
2000
pubmed:articleTitle
5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.
pubmed:affiliation
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.