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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.
- Source :
-
Human molecular genetics [Hum Mol Genet] 1999 Feb; Vol. 8 (2), pp. 323-30. - Publication Year :
- 1999
-
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.
- Subjects :
- Adaptor Protein Complex beta Subunits
Adaptor Proteins, Vesicular Transport
Alleles
Amino Acid Sequence
Animals
Base Sequence
COS Cells
Cloning, Molecular methods
Contig Mapping
DNA, Complementary chemistry
DNA, Complementary genetics
Female
Gene Expression
Male
Mice
Mice, Inbred C3H
Mice, Inbred C57BL
Mice, Mutant Strains
Molecular Sequence Data
Mutation
RNA, Messenger genetics
RNA, Messenger metabolism
Sequence Alignment
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Tissue Distribution
Transcription, Genetic
Albinism, Oculocutaneous genetics
Genes genetics
Hypopigmentation genetics
Membrane Proteins genetics
Monomeric Clathrin Assembly Proteins
Nerve Tissue Proteins genetics
Night Blindness genetics
Phosphoproteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0964-6906
- Volume :
- 8
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Human molecular genetics
- Publication Type :
- Academic Journal
- Accession number :
- 9931340
- Full Text :
- https://doi.org/10.1093/hmg/8.2.323