Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

@article{Zhang2003Ru2AR,
  title={Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6},
  author={Qing Zhang and Baohui Zhao and Wei Li and Naoki Oiso and Edward K. Novak and Michael E. Rusiniak and Rashi Gautam and Sreenivasulu Chintala and Edward P. O’Brien and Yuke Zhang and B. A. Roe and Rosemary W. Elliott and Eva M. Eicher and Ping Liang and Christian Peter Kratz and Eric Legius and Richard A. Spritz and T Norene O'Sullivan and Neal G. Copeland and Nancy A. Jenkins and Richard T. Swank},
  journal={Nature Genetics},
  year={2003},
  volume={33},
  pages={145-153}
}
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products… 
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene.
Hermansky-Pudlak syndrome (HPS) consists of a set of human autosomal recessive disorders, with symptoms resulting from defects in genes required for protein trafficking in lysosome-related organelles
The Drosophila Pigmentation Gene pink (p) Encodes a Homologue of Human Hermansky–Pudlak Syndrome 5 (HPS5)
TLDR
It is reported that the gene encoding the Drosophila ortholog of the HPS5 subunit of BLOC‐2 is identical to the granule group gene pink (p), which was first studied in 1910 but had not been identified at the molecular level.
Murine Hermansky–Pudlak syndrome genes: regulators of lysosome‐related organelles
TLDR
In the mouse, at least 16 genes regulate vesicle trafficking to specialized lysosome‐related organelles, including platelet dense granules and melanosomes, which control a wide range of physiological processes including immune recognition, neuronal functions and lung surfactant trafficking.
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
TLDR
The cloning of the mouse HPS mutation cappuccino is reported, and it is shown that the wild-type cno gene encodes a novel, ubiquitously expressed cytoplasmic protein that coassembles with pallidin and the muted protein in the BLOC-1 complex.
snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes. HPS patients display oculocutaneous hypopigmentation and bleeding
The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 Proteins Are Components of Two Complexes, BLOC-3 and BLOC-4, Involved in the Biogenesis of Lysosome-related Organelles*
TLDR
It is proposed that the BLOC-3 andBLOC-4 HPS1·HPS4 complexes play a central role in trafficking cargo proteins to newly formed cytoplasmic organelles.
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
TLDR
The cloning of the mouse HPS mutation reduced pigmentation (rp) is reported, showing that the wild-type rp gene encodes a novel, widely expressed 195-amino acid protein that shares 87% amino acid identity with its human orthologue and localizes to punctate cytoplasmic structures.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
TLDR
It is shown that BLOC-1 is important in producing the HPS phenotype in humans, it is indicated that dysbindin has a role in the biogenesis of lysosome-related organelles and unexpected interactions between components of DPC and BL OC-1 are identified.
The Hermansky-Pudlak Syndrome 3 (Cocoa) Protein Is a Component of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2)*
TLDR
Results indicate that the Hps3, Hps5, and Hps6 proteins regulate vesicle trafficking to lysosome-related organelles at the physiological level as components of the BLOC-2 protein complex and suggest that the pathogenesis and future therapies of HPS 3, HPS5 and HPS6 patients are likely to be similar.
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TLDR
The gene mutated in cocoa (coa) mice is identified, which is associated with an HPS-like mutant phenotype and thus represents a strong candidate for human HPS.
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TLDR
Recent physiological studies have shown that mouse HPS mutants, like their human HPS counterparts, have variably reduced lifespans and may have lung abnormalities.
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TLDR
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TLDR
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TLDR
It is demonstrated that mice with the ep mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet-dense granules, establishing an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
TLDR
Characterization of the mouse HPS cDNA and genomic locus and identification of pathologic Hps gene mutations in ep but not in ru mice are described, establishing mouse pale ear as an animal model for human HPS.
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The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation
In the mouse, more than 16 loci are associated with mutant phenotypes that include defective pigmentation, aberrant targeting of lysosomal enzymes, prolonged bleeding, and immunodeficiency, the
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