The inherited human syndromes of oculocutaneous albinism and in particular the subform termed Hermansky Pudlak Syndrome (HPS) cause considerable morbidity and mortality, yet knowledge of the genes which cause the syndrome and efficacious treatments are minimal. In contrast, studies in the mouse have identified at least 14 different genes which directly cause HPS. The broad long-term objective of this research is to utilize the genetic advantages of the mouse to clone and characterize the mouse HPS and corresponding human homologs to better understand the causes and ultimately devise therapies for severe forms of human HPS. In particular, it is proposed to clone and partially characterize one of the more defined mouse HPS genes, ruby eye. The ruby eye gene has intrinsic interest, not only because it causes HPS, but also because it regulates the biogenesis/processing/secretion of three subcellular organelles; melanosomes, lysosomes and platelet dense granules.
The specific aims of the proposal are to: (1) identify the mouse ruby eye (ru) gene by positional/candidate gene approaches; (2) isolate the human homolog corresponding to the ruby eye cDNA and test for alteration in this gene in HPS kindreds; and (3) partially characterize the expression and regulation of the mouse ruby eye gene.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
1R01EY012104-01
Application #
2591384
Study Section
Visual Sciences C Study Section (VISC)
Project Start
1998-04-01
Project End
2001-03-31
Budget Start
1998-04-01
Budget End
1999-03-31
Support Year
1
Fiscal Year
1998
Total Cost
Indirect Cost
Name
Roswell Park Cancer Institute Corp
Department
Type
DUNS #
City
Buffalo
State
NY
Country
United States
Zip Code
14263
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