International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 159 - GENETIC ANALYSIS OF HERMANSKY-PUDLAK SYNDROME MUTANTS

LS Webb
The Jackson Laboratory

Webb LS, Gwynn B, Ciciotte SL., Peters LL
The Jackson Laboratory

Platelet storage pool deficiencies (SPDs) are a group of heritable bleeding disorders resulting from abnormal platelet structure and/or function. SPDs are the second most frequent genetic bleeding disorder in humans, and are caused by a reduction in the number or contents of the platelet dense granules and/or a-granules, which leads to abnormal platelet aggregation and prolonged bleeding.  SPDs are a complex group of diseases representing a wide diversity of phenotypes. The Hermansky-Pudlak Syndrome (HPS) is one of the most severe of the SPDs and is characterized by defects in the lysosome-related organelles (lysosomes, melanosomes, and platelet dense bodies) leading to abnormal lysosome secretion, varying degrees of oculocutaneous albinism, and prolonged bleeding.  HPS is genetically heterogeneous.  To date, four human HPS genes have been identified, and there are at least 15 mouse models for HPS.  The cloning of several of these mutations has led directly to the identification of homologous HPS-causing genes in humans.  All of the human and murine HPS genes in which the protein product has a known or suspected function are involved in some way in vesicle trafficking.  We describe the genetic analysis of several mouse models of HPS, including cappuccino, pallid, reduced pigmentation, and ruby eye.  We have intercrossed these strains of mice to determine if there is a genetic interaction between the genes causing these SPD mutations, and we discuss the results of these crosses.   Acknowledgement:  LSW is supported by the Judith Graham Pool Postdoctoral Fellowship from the National Hemophilia Foundation.


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