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Titolo:
dbest1, a Drosophila homolog of human Bestrophin, is not required for viability or photoreceptor integrity
Autore:
Tavsanli, BC; Pappu, KS; Mehta, SQ; Mardon, G;
Indirizzi:
Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Pathol, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 gram Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 pt Ophthalmol, Houston, TX 77030 USA
Titolo Testata:
GENESIS
fascicolo: 3, volume: 31, anno: 2001,
pagine: 130 - 136
SICI:
1526-954X(200111)31:3<130:DADHOH>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
VITELLIFORM MACULAR DYSTROPHY; GENE; PROTEIN; MUTATIONS; DISEASE;
Keywords:
Bestrophin; macular; degeneration; dystrophy; dbest; Drosophila;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Mardon, G Baylor Coll Med, Dept Pathol, 1 Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med 1 Baylor Plaza Houston TX USA 77030 TX 77030 USA
Citazione:
B.C. Tavsanli et al., "dbest1, a Drosophila homolog of human Bestrophin, is not required for viability or photoreceptor integrity", GENESIS, 31(3), 2001, pp. 130-136

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 ormice. 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. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/02/20 alle ore 17:21:34