title: 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.
authors.affiliation: Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: B C
authors.initials: BC
authors.lastname: Tavsanli
authors.forename: K S
authors.initials: KS
authors.lastname: Pappu
authors.forename: S Q
authors.initials: SQ
authors.lastname: Mehta
authors.forename: G
authors.initials: G
authors.lastname: Mardon
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000075002:Bestrophins; D015152:Blotting, Northern; D018118:Chloride Channels; D017931:DNA Primers / Q000737:chemistry; D004331:Drosophila melanogaster / Q000502:physiology*; D004596:Electroretinography; D005136:Eye Proteins / Q000737:chemistry / Q000502:physiology*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000503:physiopathology; D008969:Molecular Sequence Data; D009154:Mutation; D017956:Photoreceptor Cells, Invertebrate / Q000502:physiology*; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D017931:DNA Primers; D005136:Eye Proteins; D012333:RNA, Messenger