Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Nat Genet
; 14(3): 300-6, 1996 Nov.
Article
in En
| MEDLINE
| ID: mdl-8896559
ABSTRACT
Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles melanosomes, platelet dense bodies, and lysosomes. HPS is the most common single-gene disorder in Puerto Rico, with an incidence of 1 in 1,800. We have identified the HPS gene by positional cloning, and found homozygous frameshifts in this gene in Puerto Rican, Swiss, Irish and Japanese HPS patients. The HPS polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and that is apparently crucial for their normal development and function. The different clinical phenotypes associated with the different HPS frameshifts we observed suggests that differentially truncated HPS polypeptides may have somewhat different consequences for subcellular function.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Albinism, Oculocutaneous
/
Lysosomal Storage Diseases
/
Cytoplasm
/
Membrane Proteins
/
Mutation
Limits:
Humans
Country/Region as subject:
Asia
/
Caribe
/
Europa
/
Puerto rico
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
1996
Document type:
Article
Affiliation country:
Estados Unidos