Genomes and Genes
Gene Symbol: Hps5
Description: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Alias: AI646796, AL022647, C85120, haze, maroon, ru-2, ru2, Hermansky-Pudlak syndrome 5 protein homolog, Hermansky-Pudlak syndrome 5 homolog, ruby eye 2, ruby-eye protein 2, truncated HPS5 protein
- Russell L, Montgomery C, Cacheiro N, Johnson D. Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics. 1995;141:1547-62 pubmed..The alleles specifying mottling or darker pigment (generically, pm and px, respectively) probably do not represent deletions of p-coding sequences but could be small rearrangements involving proximal regulatory elements. ..
- Nadeau J. Modifier genes in mice and humans. Nat Rev Genet. 2001;2:165-74 pubmed
- Moore K, Swing D, Copeland N, Jenkins N. The murine dilute suppressor gene encodes a cell autonomous suppressor. Genetics. 1994;138:491-7 pubmed..In addition, we have further refined the map location of dsu in order to examine a number of possible dsu candidate genes mapping in the region and to provide a genetic basis for the positional cloning of dsu. ..
- Novak E, Hui S, Swank R. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood. 1984;63:536-44 pubmed..In the present study, five other mutants with defective lysosomal enzyme secretion--pearl, pallid, light ear, maroon, and ruby-eye--were likewise found to have abnormally prolonged bleeding times after experimental injury...
- Rachel R, Nagashima K, O Sullivan T, Frost L, Stefano F, Marigo V, et al. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS ONE. 2012;7:e42446 pubmed publisher..Furthermore these studies provide the foundation for therapeutic approaches to correct the pigment defects in the RPE of HPS and OA1. ..
- Eicher E. The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics. 1970;64:495-510 pubmed
- Salazar G, Zlatic S, Craige B, Peden A, Pohl J, Faundez V. Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009;284:1790-802 pubmed publisher..These results suggest that AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route...
- Hirobe T, Ito S, Wakamatsu K. The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. Pigment Cell Melanoma Res. 2013;26:723-6 pubmed publisherThe novel mutation named ru2(d) /Hps5(ru2-d) , characterized by light-colored coats and ruby-eyes, prohibits differentiation of melanocytes by inhibiting tyrosinase (Tyr) activity, expression of Tyr, Tyr-related protein 1 (Tyrp1), Tyrp2, ..
- Itoh Y, Nagaoka Y, Katakura Y, Kawahara H, Takemori H. Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. Pigment Cell Melanoma Res. 2016;29:578-82 pubmed publisher..HPS patients can develop granulomatous colitis, the simple induction of chronic colitis in spontaneously mutated Hps5-deficient mice may become an invaluable model for exploring treatment options in patients with HPS as well as other ..
- Brion J, Guilleminot J, Nunez J. Dendritic and axonal distribution of the microtubule-associated proteins MAP2 and tau in the cerebellum of the nervous mutant mouse. Brain Res Dev Brain Res. 1988;44:221-32 pubmed..It remains unclear, however, whether such changes in expression of MAP2 represent a primary effect of the mutation or if it is only a precocious result of Purkinje cell degeneration. ..
- Hirobe T, Wakamatsu K, Ito S. A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. Zoolog Sci. 2012;29:652-61 pubmed publisher..coats and ruby eyes, which occurred spontaneously in mice in our laboratory, exhibited deletion in the Hps5 gene (ru2(d)/Hps5(ru2-d))...