The mouse pale ear (ep) mutation is the homologue of human Hermansky- Pudlak syndrome

J. M. Gardner, S. C. Wildenberg, N. M. Keiper, E. K. Novak, M. E. Rusiniak, R. T. Swanks, N. Puri, J. N. Finger, Nobuko Hagiwara, A. L. Lehman, T. L. Gales, M. E. Bayer, R. A. King, M. H. Brilliant

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118 Scopus citations

Abstract

The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis of the mutant ep gene revealed the insertion of an intracisternal A particle element in a protein-coding 3' exon. Here we demonstrate that mice with the ep mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet- dense granules. These results establish an animal model of liPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.

Original languageEnglish (US)
Pages (from-to)9238-9243
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume94
Issue number17
DOIs
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • General

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    Gardner, J. M., Wildenberg, S. C., Keiper, N. M., Novak, E. K., Rusiniak, M. E., Swanks, R. T., Puri, N., Finger, J. N., Hagiwara, N., Lehman, A. L., Gales, T. L., Bayer, M. E., King, R. A., & Brilliant, M. H. (1997). The mouse pale ear (ep) mutation is the homologue of human Hermansky- Pudlak syndrome. Proceedings of the National Academy of Sciences of the United States of America, 94(17), 9238-9243. https://doi.org/10.1073/pnas.94.17.9238