Source:http://linkedlifedata.com/resource/pubmed/id/11455388
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2001-7-31
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| pubmed:databankReference | |
| pubmed:abstractText |
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations of the disease. HPS occurs with a frequency of one in 1800 in north-west Puerto Rico due to a founder effect. Several non-Puerto Rican patients also have mutations in HPS1, which produces a protein of unknown function. Another gene, ADTB3A, causes HPS in the pearl mouse and in two brothers with HPS-2 (refs. 11,12). ADTB3A encodes a coat protein involved in vesicle formation, implicating HPS as a disorder of membrane trafficking. We sought to identify other HPS-causing genes. Using homozygosity mapping on pooled DNA of 6 families from central Puerto Rico, we localized a new HPS susceptibility gene to a 1.6-cM interval on chromosome 3q24. The gene, HPS3, has 17 exons, and a putative 113.7-kD product expected to reveal how new vesicles form in specialized cells. The homozygous, disease-causing mutation is a large deletion and represents the second example of a founder mutation causing HPS on the small island of Puerto Rico. We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
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| pubmed:issn |
1061-4036
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
28
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
376-80
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:11455388-Alleles,
pubmed-meshheading:11455388-Amino Acid Sequence,
pubmed-meshheading:11455388-Blotting, Northern,
pubmed-meshheading:11455388-Carrier Proteins,
pubmed-meshheading:11455388-Chromosomes, Human, Pair 3,
pubmed-meshheading:11455388-DNA Mutational Analysis,
pubmed-meshheading:11455388-Female,
pubmed-meshheading:11455388-Founder Effect,
pubmed-meshheading:11455388-Genetic Predisposition to Disease,
pubmed-meshheading:11455388-Genotype,
pubmed-meshheading:11455388-Hermanski-Pudlak Syndrome,
pubmed-meshheading:11455388-Heterozygote Detection,
pubmed-meshheading:11455388-Homozygote,
pubmed-meshheading:11455388-Humans,
pubmed-meshheading:11455388-Male,
pubmed-meshheading:11455388-Molecular Sequence Data,
pubmed-meshheading:11455388-Mutation,
pubmed-meshheading:11455388-Organ Specificity,
pubmed-meshheading:11455388-Pedigree,
pubmed-meshheading:11455388-Phenotype,
pubmed-meshheading:11455388-Physical Chromosome Mapping,
pubmed-meshheading:11455388-Puerto Rico,
pubmed-meshheading:11455388-Sequence Deletion
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| pubmed:year |
2001
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| pubmed:articleTitle |
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
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| pubmed:affiliation |
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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