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Molecular Cloning and Characterization of Mammalian Homologues of theDrosophila retinal degeneration BGene

1997; Elsevier BV; Volume: 236; Issue: 3 Linguagem: Inglês

10.1006/bbrc.1997.7009

1090-2104

Yoshikatsu Aikawa, Hideo Hara, Takeshi Watanabe,

Parkinson's Disease Mechanisms and Treatments

Null mutations in theretinal degeneration Bgene (rdgB) in flies result in an activity-dependent retinal degeneration. Here we report the isolation of the mouse and human homologues ofrdgBgene that are strongly expressed in brain and moderately expressed in other tissues. The deduced amino acid sequences encoding a 1244 a.a protein bear a 96 % similarity between mouse and human and resemble theDrosophila rdgB,particularly in the phosphatidylinositol transfer domain at the N-terminus and in six putative transmembrane domains at the C-terminus. Immunoblots with antiserum raised against a bacterially expressed fragment of the mouserdgBshowed the band with a molecular weight of about 170 kDa. Interestingly, a burst of mouserdgBexpression occurs on 17th day of gestation, suggesting a crucial role of the gene product in brain development at this particular stage. A gene,mpt-1,encoding for mouserdgBwas mapped to the proximal end of chromosome 19, which is the same location asMvb-1,a gene locus encoding the modifier of mousevibrator mutation(mv).