The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.
Hum Mol Genet
; 8(2): 323-30, 1999 Feb.
Article
in En
| MEDLINE
| ID: mdl-9931340
ABSTRACT
Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/candidate cloning approach. Mutations, including a large internal tandem duplication and a deletion, were identified in two respective pearl alleles and are predicted to abrogate function of the beta3A protein. Significantly lowered expression of altered beta3A transcripts occurred in kidney of both mutant alleles. The several distinct pearl phenotypes suggest novel functions for the AP-3 complex in mammals. These experiments also suggest mutations in AP-3 subunits as a basis for unique forms of human Hermansky-Pudlak syndrome and congenital night blindness, for which the pearl mouse is an appropriate animal model.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phosphoproteins
/
Night Blindness
/
Albinism, Oculocutaneous
/
Hypopigmentation
/
Monomeric Clathrin Assembly Proteins
/
Genes
/
Membrane Proteins
/
Nerve Tissue Proteins
Type of study:
Prognostic_studies
Limits:
Animals
Language:
En
Journal:
Hum Mol Genet
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Year:
1999
Document type:
Article
Affiliation country:
United States