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

Research output: Contribution to journalArticle

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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

Fingerprint

Hermanski-Pudlak Syndrome
Ear
Mutation
Intracisternal A-Particle Genes
Yeast Artificial Chromosomes
Melanosomes
Chromosomes, Human, Pair 19
Intracellular Membranes
Insertional Mutagenesis
Lip
Organelles
Genes
Sequence Analysis
Organism Cloning
Exons
Membrane Proteins
Proteins
Blood Platelets
Nucleotides
Animal Models

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Gardner, J. M., Wildenberg, S. C., Keiper, N. M., Novak, E. K., Rusiniak, M. E., Swanks, R. T., ... 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

The mouse pale ear (ep) mutation is the homologue of human Hermansky- Pudlak syndrome. / Gardner, J. M.; Wildenberg, S. C.; Keiper, N. M.; Novak, E. K.; Rusiniak, M. E.; Swanks, R. T.; Puri, N.; Finger, J. N.; Hagiwara, Nobuko; Lehman, A. L.; Gales, T. L.; Bayer, M. E.; King, R. A.; Brilliant, M. H.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 94, No. 17, 1997, p. 9238-9243.

Research output: Contribution to journalArticle

Gardner, JM, Wildenberg, SC, Keiper, NM, Novak, EK, Rusiniak, ME, Swanks, RT, Puri, N, Finger, JN, Hagiwara, N, Lehman, AL, Gales, TL, Bayer, ME, King, RA & Brilliant, MH 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, vol. 94, no. 17, pp. 9238-9243. https://doi.org/10.1073/pnas.94.17.9238
Gardner, J. M. ; Wildenberg, S. C. ; Keiper, N. M. ; Novak, E. K. ; Rusiniak, M. E. ; Swanks, R. T. ; Puri, N. ; Finger, J. N. ; Hagiwara, Nobuko ; Lehman, A. L. ; Gales, T. L. ; Bayer, M. E. ; King, R. A. ; Brilliant, M. H. / The mouse pale ear (ep) mutation is the homologue of human Hermansky- Pudlak syndrome. In: Proceedings of the National Academy of Sciences of the United States of America. 1997 ; Vol. 94, No. 17. pp. 9238-9243.
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