Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4144-9. doi: 10.1073/pnas.080517697.

Abstract

Few molecular events important to platelet biogenesis have been identified. Mice homozygous for the spontaneous, recessive mutation gunmetal (gm) have prolonged bleeding, thrombocytopenia, and reduced platelet alpha- and delta-granule contents. Here we show by positional cloning that gm results from a G-->A substitution mutation in a splice acceptor site within the alpha-subunit of Rab geranylgeranyl transferase (Rabggta), an enzyme that attaches geranylgeranyl groups to Rab proteins. Most Rabggta mRNAs from gm tissues skipped exon 1 and lacked a start codon. Rabggta protein and Rab geranylgeranyl transferase (GGTase) activity were reduced 4-fold in gm platelets. Geranylgeranylation and membrane association of Rab27, a Rab GGTase substrate, were significantly decreased in gm platelets. These findings indicate that geranylgeranylation of Rab GTPases is critical for hemostasis. Rab GGTase inhibition may represent a new treatment for thrombocytosis and clotting disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alkyl and Aryl Transferases / genetics*
  • Animals
  • Blood Platelets / cytology*
  • Cell Division / genetics*
  • Chromosomes, Artificial, Yeast
  • Genotype
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Protein Prenylation
  • rab GTP-Binding Proteins / metabolism*

Substances

  • Alkyl and Aryl Transferases
  • Rab geranylgeranyltransferase
  • rab GTP-Binding Proteins

Associated data

  • GENBANK/AF127654
  • GENBANK/AF127655
  • GENBANK/AF127656
  • GENBANK/AF127660
  • GENBANK/AF127661