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Mutations In Human Homolog Of Mouse Light-Ear Gene Cause Hermansky-Pudlak Syndrome

  February, 16 2002 4:21
your information resource in human molecular genetics
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of malanosomes, platelet dense granules and lysosomes. HPS is common in Puerto Rico, where it is caused by mutations in the genes HPS1 and, less often, HPS3. In contrast, only half of non-Peurto Rican individuals with HPS have mutations in HPS1, and very few in HPS3. Mouse pale ear (ep), the mouse homolog of HPS1, has a phenotype identical to another mutant, light ear (le), which suggests that the human homolog of ‘le’ is a possible human HPS locus.

In a Nature Genetics article published online, the authors have identified and found mutations of the human ‘le’ homolog, HPS4, in a number of non-Puerto Rican individuals with HPS, establishing HPS4 as an important HPS locus in humans. They also present results suggesting that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis.

Author contact:

Richard A. Spritz
Human Medical Genetics Program
University of Colorado Health Sciences Center
Denver, Colorado 80262

E-mail: richard.spritz@uchsc.edu

Message posted by: Trevor M. D'Souza

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