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In addition, some HPS patients suffer granulomatous colitis or fatal pulmonary fibrosis, perhaps due to mistrafficking of a subset of lysosomes. The impaired function of specific organelles indicates that the causative genes encode proteins operative in the formation of certain vesicles. Four such genes, <jats:italic>HPS1<\/jats:italic>, <jats:italic>ADTB3A<\/jats:italic>, <jats:italic>HPS3<\/jats:italic>, and <jats:italic>HPS4<\/jats:italic>, are associated with the four known subtypes of HPS, i.e. HPS\u20101, HPS\u20102, HPS\u20103, and HPS\u20104. <jats:italic>ADTB3A<\/jats:italic> codes for the \u03b23A subunit of adaptor complex\u20103, known to assist in vesicle formation from the <jats:italic>trans<\/jats:italic>\u2010Golgi network or late endosome. However, the functions of the <jats:italic>HPS1<\/jats:italic>, <jats:italic>HPS3<\/jats:italic>, and <jats:italic>HPS4<\/jats:italic> gene products remain unknown. These three genes arose with the evolution of mammals and have no homologs in yeast, reflecting their specialized function. In contrast, all four known HPS\u2010causing genes have homologs in mice, a species with 14 different models of HPS, i.e. hypopigmentation and a platelet storage pool deficiency. Pursuit of the mechanism of mammalian vesicle formation and trafficking, impaired in HPS, relies upon investigation of these mouse models as well as studies of protein complexes involved in yeast vacuole formation.<\/jats:p>","DOI":"10.1034\/j.1600-0749.2002.02074.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T16:36:50Z","timestamp":1047487010000},"page":"405-419","source":"Crossref","is-referenced-by-count":94,"title":["Hermansky\u2013Pudlak Syndrome: Vesicle Formation from Yeast to Man"],"prefix":"10.1111","volume":"15","author":[{"given":"Marjan","family":"Huizing","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond E.","family":"Boissy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,11,23]]},"reference":[{"key":"e_1_2_28_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_28_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2729"},{"key":"e_1_2_28_4_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130104.x"},{"key":"e_1_2_28_5_2","unstructured":"KingRA HearingVJ CreelDJ OettingWS.Albinism. 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