ArticleMammalian genome : official journal of the International Mammalian Genome Society2004
The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 83 citations in OpenAlex.
- Rab32 and Rab38 maintain bone homeostasis by regulating intracellular traffic in osteoclasts.Cell structure and function · 2023Article
- Positional cloning of rat mutant genes reveals new functions of these genes.Experimental animals · 2023Review
- Rab family of small GTPases: an updated view on their regulation and functions.The FEBS journal · 2021Review
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.Blood advances · 2019Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Function and regulation of the Caenorhabditis elegans Rab32 family member GLO-1 in lysosome-related organelle biogenesis.PLoS genetics · 2018Article
- Sorting machineries: how platelet-dense granules differ from α-granules.Bioscience reports · 2018Review
- Review
- A bout analysis of operant response disruption.Behavioural processes · 2017Article
- Exogenous gene transfer of RabRespiratory research · 2017Article
- Review
- Evolutionary loss of melanogenesis in the tunicateEvoDevo · 2017Article
- Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective.BMC evolutionary biology · 2016Article
- The role of the small GTPase Rab31 in cancer.Journal of cellular and molecular medicine · 2015Review
- Article
- Rab family of GTPases.Methods in molecular biology (Clifton, N.J.) · 2015Review
- Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes.The Journal of biological chemistry · 2014Article
- C. elegans as a model for membrane traffic.WormBook : the online review of C. elegans biology · 2014Review
- Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is a group of rare, recessive disorders in which oculocutaneous albinism, progressive pulmonary fibrosis, bleeding diathesis, and other abnormalities result from defective biogenesis of multiple cytoplasmic organelles. Seven different HPS genes are known in humans; in mouse, at least 16 loci are associated with HPS-like mutant phenotypes. In the rat, only two HPS models are known, Fawn-hooded (FH) and Tester Moriyama (TM), non-complementing strains in which HPS-like hypopigmentation and platelet storage pool deficiency result from a mutation of the Ruby (red eyed dilution; R) locus on Chromosome (Chr) 1. We have identified the R locus as the Rab38 gene, establishing that rat R is homologous to mouse chocolate ( cht). Further, we show that FH and TM rats have identical Rab38 Met1Ile mutations, occurring on an identical Chr 1 marker allele haplotype, indicating that these two strains derive from a common ancestor. This ancestor appears to have been a sub-strain of the outbred Long Evans (LE) strain, and several modern LE sub-strains carry the Rab38 Met1Ile R mutation on the same Chr 1 marker haplotype. These findings have significant implications for the many past and ongoing studies that involve the FH and LE-derivative rat strains. Hermansky-Pudlak syndrome (HPS; MIM 203300) is a group of autosomal recessive diseases in which oculocutaneous albinism (OCA), progressive and fatal pulmonary fibrosis, and bleeding diathesis due to platelet storage pool deficiency result from defects in the biogenesis of specific cytoplasmic organelles and granules: melanosomes, lysosomes, and platelet dense granules. In humans, seven different HPS genes are known. In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci.
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