{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:45:58Z","timestamp":1781106358446,"version":"3.54.1"},"reference-count":47,"publisher":"National Academy of Sciences","issue":"17","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1997,8,19]]},"abstract":"<jats:p>\n                    The recessive mutation at the pale ear (\n                    <jats:italic>ep<\/jats:italic>\n                    ) locus on mouse chromosome 19 was found to be the homologue of human Hermansky\u2013Pudlak 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\n                    <jats:italic>ep<\/jats:italic>\n                    gene revealed the insertion of an intracisternal A particle element in a protein-coding 3\u2032 exon. Here we demonstrate that mice with the\n                    <jats:italic>ep<\/jats:italic>\n                    mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet-dense granules. These results establish an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.\n                  <\/jats:p>","DOI":"10.1073\/pnas.94.17.9238","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:32:33Z","timestamp":1027679553000},"page":"9238-9243","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":112,"title":["The mouse pale ear (\n                    <i>ep<\/i>\n                    ) mutation is the homologue of human Hermansky\u2013Pudlak\u2009syndrome"],"prefix":"10.1073","volume":"94","author":[{"given":"John M.","family":"Gardner","sequence":"first","affiliation":[{"name":"The Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111; Department of Medicine, University of Minnesota, Minneapolis, MN 55455; and Roswell Park Cancer Institute, Buffalo, NY 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