Mammalian Genome

, Volume 15, Issue 4, pp 307–314

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

  • Naoki Oiso
  • Suzette R. Riddle
  • Tadao Serikawa
  • Takashi Kuramoto
  • Richard A. Spritz
Article

DOI: 10.1007/s00335-004-2337-9

Cite this article as:
Oiso, N., Riddle, S.R., Serikawa, T. et al. Mamm Genome (2004) 15: 307. doi:10.1007/s00335-004-2337-9

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 (reviewed in Spritz 1999, 2000; Spritz et al. 2003). In humans, seven different HPS genes are known (Oh et al. 1996; Dell’Angelica et al. 1999; Anikster et al. 2001; Suzuki et al. 2002; Li et al. 2003; Zhang et al. 2003). 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 (Swank et al. 1998; Bennett and Lamoreux 2003).

Copyright information

© Springer-Verlag New York Inc. 2004

Authors and Affiliations

  • Naoki Oiso
    • 1
  • Suzette R. Riddle
    • 1
  • Tadao Serikawa
    • 2
  • Takashi Kuramoto
    • 2
  • Richard A. Spritz
    • 1
  1. 1.Human Medical Genetics ProgramUniversity of Colorado Health Sciences Center, 4200 E. 9th Ave., B161, Denver, Colorado 80262USA
  2. 2.Institute of Laboratory AnimalsGraduate School of Medicine, Kyoto University, Kyoto 606-8501Japan

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