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Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene.

ABSTRACT: Retinal degeneration-B (rdgB) mutants of Drosophila melanogaster undergo rapid light-induced retinal degeneration. We conducted a molecular characterization of the rdgB gene to examine the nature of the gene product. Through the isolation and analysis of X-ray-induced rdgB alleles, the cytogenetic position of the gene was determined to be the 12C1 salivary region. Genomic DNA corresponding to this region was isolated by a chromosomal walk. The chromosomal aberrations associated with the three X-ray-induced rdgB alleles were shown to be within a 5-kb genomic region. A single transcription unit was affected by the alleles, identifying it as the rdgB gene. RNA-RNA Northern hybridization indicated the rdgB gene transcribed five mRNAs ranging in size from 3.9 to 9.5 kb. These mRNAs were expressed in adult heads, but not detected in bodies. Analysis of RNA isolated from wild-type and eyes absent heads indicated that rdgB mRNA expression was not restricted to the retina. DNA sequence analysis of the transcription unit revealed an open reading frame capable of encoding a 116-kD transmembrane protein. The deduced protein shows no overall homology to previously described proteins, but has sequences in common with proposed functional domains of Ca(2+)-ATPase.

SUBMITTER: Vihtelic TS

PROVIDER: S-EPMC1204403 | biostudies-other | 1991 Apr

REPOSITORIES: biostudies-other

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Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene.

Vihtelic T S TS Hyde D R DR O'Tousa J E JE

Genetics 19910401 4

Retinal degeneration-B (rdgB) mutants of Drosophila melanogaster undergo rapid light-induced retinal degeneration. We conducted a molecular characterization of the rdgB gene to examine the nature of the gene product. Through the isolation and analysis of X-ray-induced rdgB alleles, the cytogenetic position of the gene was determined to be the 12C1 salivary region. Genomic DNA corresponding to this region was isolated by a chromosomal walk. The chromosomal aberrations associated with the three X- ...[more]

PMID: 1903119

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Project description:ImportanceThe PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity.ObjectiveTo characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants.Design, setting, and participantsThis case-series study was conducted at 2 specialist retinal genetics clinics and examined 19 consecutively enrolled patients with PROM1-related retinal degeneration. Data were collected and analyzed from May 2018 to December 2018.Main outcomes and measuresResults of ophthalmic examination, retinal imaging, and molecular genetic analysis by next-generation sequencing.ResultsOf 19 patients, 13 (68%) were women, and age ranged from 11 to 70 years. All patients presented with central visual loss, with or without photophobia. Individuals with recessive variants commonly had severe loss of visual acuity by their 20s, whereas the dominant variant was associated with a milder phenotype, with most patients retaining good vision into late adulthood. The recessive cases were associated with a panretinal dystrophy of cone-rod phenotype with early macular involvement, whereas the dominant variants were associated with a cone-rod phenotype that was restricted to the macula with predominantly cone dysfunction. Next-generation sequencing identified 3 novel and 9 previously reported variants in PROM1. Recessive mutations included 6 truncating variants (3 nonsense and 3 frameshift), 4 splice site variants, and 1 missense variant. All 6 dominant variants were associated with a c.1117C>T missense variant. The variants were distributed throughout the PROM1 genomic sequence with no specific clustering on protein domains.Conclusions and relevanceIn this case-series study, PROM1 recessive variants were associated with early-onset, severe panretinal degeneration. The similar phenotypes observed in patients with homozygous missense variants and splice site variants compared with similarly aged patients with truncating variants suggests that all recessive variants have a null (or loss of function close to null) outcome on PROM1 function. In contrast, the dominant missense cases were associated with a milder, cone-driven phenotype, suggesting that the dominant disease is preferentially associated with cones. This has implications for the development of treatments for this severely blinding disease, and adeno-associated viral vector-based gene therapy and optogenetics could become successful treatment options.

Dataset Information

Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene.

Publications

Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene.

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