Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

McWilliam, Peter; Farrar, G. Jane; Kenna, Paul F.; Bradley, Daniel G.; Humphries, Marian M.; Sharp, Elizabeth M.; McConnell, David J.; Lawler, Mark; Sheils, Denise M.; Ryan, Carmel; Stevens, Karen E.; Daiger, Stephen P.; Humphries, Peter

doi:10.1016/0888-7543(89)90031-1

Cited by 217 publications

(39 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The EnsMart region, expression, and protein filters can be used to define such a query, and greatly narrow down the list of potential genes that would have to be screened. For example, a locus for autosomal dominant retinitis pigmentosa was originally mapped to 3q21 (McWilliam et al 1989). Using EnsMart with the Ensembl gene set based on the NCBI 31 assembly, a list of 96 candidates can be identified in this region, with 25 having retinal expression as assessed from EST-derived data.…”

Section: Discussionmentioning

confidence: 99%

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

Kasprzyk¹,

Keefe²,

Smedley³

et al. 2004

Genome Res.

371

283

View full text Add to dashboard Cite

The EnsMart system (www.ensembl.org/EnsMart) provides a generic data warehousing solution for fast and flexible querying of large biological data sets and integration with third-party data and tools. The system consists of a query-optimized database and interactive, user-friendly interfaces. EnsMart has been applied to Ensembl, where it extends its genomic browser capabilities, facilitating rapid retrieval of customized data sets. A wide variety of complex queries, on various types of annotations, for numerous species are supported. These can be applied to many research problems, ranging from SNP selection for candidate gene screening, through cross-species evolutionary comparisons, to microarray annotation. Users can group and refine biological data according to many criteria, including cross-species analyses, disease links, sequence variations, and expression patterns. Both tabulated list data and biological sequence output can be generated dynamically, in HTML, text, Microsoft Excel, and compressed formats. A wide range of sequence types, such as cDNA, peptides, coding regions, UTRs, and exons, with additional upstream and downstream regions, can be retrieved. The EnsMart database can be accessed via a public Web site, or through a Java application suite. Both implementations and the database are freely available for local installation, and can be extended or adapted to 'non-Ensembl' data sets.

show abstract

Section: Discussionmentioning

confidence: 99%

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

Kasprzyk¹,

Keefe²,

Smedley³

et al. 2004

Genome Res.

371

283

View full text Add to dashboard Cite

show abstract

“…By comparison, Leber congenital amuraurosis has a much lower incidence with an autosomal recessive mode of inheritance and typically presents at birth. Since the seminal identification in 1989 of the first locus associated with an inherited photoreceptor cell degeneration, and during the following year (McWilliam et al, 1989;Dryja et al, 1990a, b), the subsequent determination of mutations in the rhodopsin (RHO) gene responsible for autosomal dominant RP, over 150 loci and 100 genes have been associated with photoreceptor cell dystrophies (A comprehensive and updated list can be found at Retnet (http://www.sph.uth.tmc.edu/Retnet/disease.htm)). It is not surprising that many of the initial discoveries were genes associated with the unique processes of photoreceptor cells, such as phototransduction, photoreceptor cell structure or cellular interactions unique to the photoreceptor cells and the retinal pigment epithelium (RPE).…”

Section: Models Of Human Diseasementioning

confidence: 99%

Zebrafish: A model system for the study of eye genetics

Fadool

Dowling

2008

Progress in Retinal and Eye Research

195

172

View full text Add to dashboard Cite

Over the last decade, the use of the zebrafish as a genetic model has moved beyond the proof-ofconcept for the analysis of vertebrate embryonic development to demonstrated utility as a mainstream model organism for the understanding of human disease. The initial identification of a variety of zebrafish mutations affecting the eye and retina, and the subsequent cloning of mutated genes have revealed cellular, molecular and physiological processes fundamental to visual system development. With the increasing development of genetic manipulations, sophisticated techniques for phenotypic characterization, behavioral approaches and screening strategies, the identification of novel genes or novel gene functions will have important implications for our understanding of human eye diseases, pathogenesis, and treatment.

show abstract

“…Linkage to locus D3S47 on chromosome 3q has been found in a large Irish family with ADRP (McWilliam et al, 1989). Dryja et al (1990a, b) studied intensively rhodopsin gene on chro-mosome 3q and tbund the mutations of a single base change in an allele of codon 23, 58, or 347 of the rhodopsin gene in patients with ADRP.…”

Section: Introductionmentioning

confidence: 99%

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

et al. 1992

View full text Add to dashboard Cite

SummaryThe mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG~ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG--,CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.

show abstract

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

Cited by 217 publications

References 22 publications

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

Zebrafish: A model system for the study of eye genetics

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

Contact Info

Product

Resources

About