Unknown

Dataset Information

0

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.


ABSTRACT: Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malformation of lysosome-related organelles, such as pigment cell melanosomes. Three of nine characterized HPS subtypes result from mutations in subunits of BLOC-2, a protein complex with no known molecular function. In this paper, we exploit melanocytes from mouse HPS models to place BLOC-2 within a cargo transport pathway from recycling endosomal domains to maturing melanosomes. In BLOC-2-deficient melanocytes, the melanosomal protein TYRP1 was largely depleted from pigment granules and underwent accelerated recycling from endosomes to the plasma membrane and to the Golgi. By live-cell imaging, recycling endosomal tubules of wild-type melanocytes made frequent and prolonged contacts with maturing melanosomes; in contrast, tubules from BLOC-2-deficient cells were shorter in length and made fewer, more transient contacts with melanosomes. These results support a model in which BLOC-2 functions to direct recycling endosomal tubular transport intermediates to maturing melanosomes and thereby promote cargo delivery and optimal pigmentation.

SUBMITTER: Dennis MK 

PROVIDER: S-EPMC4442807 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

altmetric image

Publications


Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malformation of lysosome-related organelles, such as pigment cell melanosomes. Three of nine characterized HPS subtypes result from mutations in subunits of BLOC-2, a protein complex with no known molecular function. In this paper, we exploit melanocytes from mouse HPS models to place BLOC-2 within a cargo transport pathway from recycling endosomal domains to maturing melanosomes. In BLOC-2-deficient melanocytes, the me  ...[more]

Similar Datasets

| S-EPMC4690521 | biostudies-other
| S-EPMC4217428 | biostudies-literature
2011-12-17 | E-GEOD-30770 | biostudies-arrayexpress
| S-EPMC8666849 | biostudies-literature
2011-12-17 | GSE30770 | GEO
| S-EPMC5790113 | biostudies-literature
| S-EPMC9250516 | biostudies-literature
| S-EPMC4582192 | biostudies-literature
| S-EPMC2786984 | biostudies-literature
| S-EPMC4970331 | biostudies-literature