Unknown

Dataset Information

0

Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.


ABSTRACT: The biogenesis of melanosomes is a multistage process that requires the function of cell-type-specific and ubiquitously expressed proteins. OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with restricted expression pattern and a potential role in the trafficking of other proteins to melanosomes. The ubiquitous protein complexes AP-3, BLOC-1, and BLOC-2, which contain as subunits the products of genes defective in various types of Hermansky-Pudlak syndrome, have been likewise implicated in trafficking to melanosomes. We have tested for genetic interactions between mutant alleles causing deficiency in OCA2 (pink-eyed dilution unstable), AP-3 (pearl), BLOC-1 (pallid), and BLOC-2 (cocoa) in C57BL/6J mice. The pallid allele was epistatic to pink-eyed dilution, and the latter behaved as a semi-dominant phenotypic enhancer of cocoa and, to a lesser extent, of pearl. These observations suggest functional links between OCA2 and these three protein complexes involved in melanosome biogenesis.

SUBMITTER: Hoyle DJ 

PROVIDER: S-EPMC3070960 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

altmetric image

Publications

Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.

Hoyle Diego J DJ   Rodriguez-Fernandez Imilce A IA   Dell'angelica Esteban C EC  

Pigment cell & melanoma research 20101217 2


The biogenesis of melanosomes is a multistage process that requires the function of cell-type-specific and ubiquitously expressed proteins. OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with restricted expression pattern and a potential role in the trafficking of other proteins to melanosomes. The ubiquitous protein complexes AP-3, BLOC-1, and BLOC-2, which contain as subunits the products of genes defective in various types of Herma  ...[more]

Similar Datasets

| S-EPMC3117733 | biostudies-literature
| S-EPMC3418312 | biostudies-literature
| S-EPMC3325407 | biostudies-literature
| S-EPMC2824551 | biostudies-literature
| S-EPMC4785538 | biostudies-literature
| S-EPMC7508881 | biostudies-literature
| S-EPMC1593172 | biostudies-literature
| S-EPMC8602267 | biostudies-literature
2022-11-10 | GSE217504 | GEO
| S-EPMC2759961 | biostudies-literature