Abstract:
:Rab38 is a low-molecular-weight G-protein highly expressed in melanocytes of the skin and alveolar type II cells in the lung. A point mutation in the postulated GTP/GDP-interacting domain of Rab38 has been identified as the genetic lesion responsible for oculocutaneous albinism (OCA) in chocolate (cht) mice. Another point mutation that prevents translation of Rab38 mRNA is the molecular basis of the Ruby gene mutation causing the phenotype of OCA and prolonged bleeding time in Fawn-Hooded and Tester-Moriyama rats. Cht mice show conspicuously enlarged lamellar bodies in alveolar type II cells and abnormal lung structure. Triton X-114 phase partitioning of cht mouse lung showed that Rab38cht-protein was recovered in the aqueous phase. We produced recombinant Rab38cht-protein using a baculovirus/insect cell-protein expression system. The results demonstrate that Rab38cht-protein is inactive due to reduced membrane binding and enhanced intracellular degradation. Rab38 is a new strong candidate gene for human Hermansky-Pudlak syndrome (HPS) that is characterized by OCA, bleeding diathesis, and lung disease.
journal_name
Methods Enzymoljournal_title
Methods in enzymologyauthors
Osanai K,Voelker DRdoi
10.1016/S0076-6879(07)38014-2subject
Has Abstractpub_date
2008-01-01 00:00:00pages
203-15eissn
0076-6879issn
1557-7988pii
S0076-6879(07)38014-2journal_volume
438pub_type
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