【摘 要】
：
Hermansky-Pudlak Syndrome (HPS; OMIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism,prolonged bleeding and pulmona
【机 构】
：
Institute of Genetics and Development Biology, Chinese Academy of Science, China
【出 处】
：
2005 World DNA and Genome Day(2005中国(大连)国际DNA和基因组节大会)
论文部分内容阅读
Hermansky-Pudlak Syndrome (HPS; OMIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism,prolonged bleeding and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules.Currently,16 mouse mutants are models for HPS and have been defined by positional candidate cloning.Five HPS genes encode known vesicle trafficking proteins.Another known gene,which is responsible for the subtle gray (sut) mutant,has been recently defined as a gene in regulating both the production of pheomelanin pigment and the proliferation of cultured cells.
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