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A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

  1. Author:
    Wilson, S. M.
    Yip, R.
    Swing, D. A.
    O'Sullivan, T. N.
    Zhang, Y.
    Novak, E. K.
    Swank, R. T.
    Russell, L. B.
    Copeland, N. G.
    Jenkins, N. A.

  2. Author Address

    Jenkins NA NCI, Mouse Canc Genet Program, Frederick Canc Res & Dev Ctr Frederick, MD 21702 USA NCI, Mouse Canc Genet Program, Frederick Canc Res & Dev Ctr Frederick, MD 21702 USA Roswell Pk Canc Inst, Dept Mol & Cell Biol Buffalo, NY 14263 USA Oak Ridge Natl Lab, Div Biol Oak Ridge, TN 37831 USA
    1. Year: 2000
  2. Journal: Proceedings of the National Academy of Sciences of the United States of America
    1. 97
    2. 14
    3. Pages: 7933-7938
  4. Type of Article: Article
  1. Abstract:

    The dilute (d), leaden (ln), and ashen (ash) mutations provide a unique model system for studying vesicle transport in mammals. All three mutations produce a lightened coat color because of defects in pigment granule transport. In addition, all three mutations are suppressed by the semidominant dilute-suppressor (dsu), providing genetic evidence that these mutations function in the same or overlapping transport pathways, Previous studies showed that d encodes a major vesicle transport motor, myosin-VA, which is mutated in Griscelli syndrome patients. Here, using positional cloning and bacterial artificial chromosome rescue, we show that ash encodes Rab27a, Rab GTPases represent the largest branch of the p21 Ras superfamily and are recognized as key players in vesicular transport and organelle dynamics in eukaryotic cells. We also show that ash mice have platelet defects resulting in increased bleeding times and a reduction in the number of platelet dense granules. These defects have not been reported for d and In mice. Collectively, our studies identify Rab27a as a critical gene for organelle-specific protein trafficking in melanocytes and platelets and suggest that Rab27a functions in both MyoVa dependent and independent pathways. [References: 50]

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