Dbest1, a drosophila homolog of human bestrophin, is not required for viability or photoreceptor integrity

Abstract

Best macular dystrophy (BMD) is an autosomal dominant human disease characterized by macular degeneration with juvenile onset (OMIM 153700). The disease is most often associated with mutations in Bestrophin, which encodes a novel protein with four putative transmembrane domains. However, complete loss-of-function mutations in Bestrophin have not been reported in humans or mice. We have identified three homologs of human Bestrophin in the Drosophila genome (dbest1-3). The protein products of these three genes share significant homology to a 364 amino acid N-terminal domain of human Bestrophin. We used P-element mutagenesis to delete dbest1, which encodes a protein with the highest amino acid similarity to Bestrophin. Three independent dbest1 mutants were recovered from the mutagenesis screen. Homozygous null mutations in dbest1 do not significantly alter the viability or fertility of mutant flies. Moreover, dbest1 mutants have normal photoreceptor morphology and function.

Single Cl− Channels Activated by Ca2+ in Drosophila S2 Cells Are Mediated By Bestrophins

“…dbest1 protein expression was measured by Western blot using an antibody developed against a fusion protein containing amino acids 440–718 of dbest1. To test whether the antibody was specific for dbest1, we compared immunoblots from flies in which the dbest1 gene was completely removed by recombination ( dbest1 1-2 line, Tavsanli et al, 2001 ) with flies in which the knockout was rescued by a transposon containing an 18-kb genomic fragment encompassing the entire dbest1 gene (λ 5 ; dbest1 1-2 line, Tavsanli et al, 2001 ). The antibody recognized a band near the predicted size (79.6 kD) in rescued ( Fig.…”

Drosophila parkinmutants have decreased mass and cell size and increased sensitivity to oxygen radical stress

“…This element, which causes recessive sterility, was mobilized using ∆2-3 transposase and new insertions were identified using inverse PCR as described (Tavsanli et al, 2001). We identified a new insertion 1 kb 3′ of parkin (named dpk P30 ) that maintained an intact EP(3)3515 element.…”

Whole-mount analysis reveals normal numbers of dopaminergic neurons following misexpression of?-Synuclein inDrosophila

“…Fly heads were embedded in Durcapan Resin (Fluka, Buchs, Switzerland) as previously described (Tavsanli et al, 2001). Eyes were sectioned 1.5 m thick, dried at 808C, and stained with 1% Toluidine blue, 1% borax, and mounted in Cyotoseal XYL (Stephens Scientific, Camden, NJ).…”