Abstract

The goal of this two-year continuation is to map and clone genes associated with autosomal dominant forms of retinitis pigmentosa (adRP). At present, more than 250 families with adRP have been analyzed as part of a systematic linkage and mutation analysis. Fifteen large families suitable for linkage analysis have been identified. None of these families have mutations in known RP-associated genes. Linkage analysis and mutation screens will be carried out to map and characterize these new adRP families. Completion of this project will help to delineate the types and prevalence of mutations that lead to adRP in a large and diverse sample of Americans. A more complete understanding of the molecular causes of RP may foster the development of novel therapies for this disease.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY007142-08
Application #
6178962
Study Section
Visual Sciences C Study Section (VISC)
Program Officer
Dudley, Peter A
Project Start
1989-01-01
Project End
2002-06-30
Budget Start
2000-07-01
Budget End
2002-06-30
Support Year
8
Fiscal Year
2000
Total Cost
$191,849
Indirect Cost

  Institution

Name
University of Texas Health Science Center Houston
Department
Genetics
Type
Schools of Public Health
DUNS #
City
Houston
State
TX
Country
United States
Zip Code
77225

  Publications

Vishnivetskiy, Sergey A; Sullivan, Lori S; Bowne, Sara J et al. (2018) Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant. Invest Ophthalmol Vis Sci 59:13-20
Daiger, Stephen P; Bowne, Sara J; Sullivan, Lori S et al. (2018) Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol 1074:237-245
Chen, Yong; Zhao, Li; Wang, Yi et al. (2017) SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics 18:147
Jones, Kaylie D; Wheaton, Dianna K; Bowne, Sara J et al. (2017) Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis 23:470-481
Sullivan, Lori S; Bowne, Sara J; Koboldt, Daniel C et al. (2017) A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Invest Ophthalmol Vis Sci 58:2774-2784
Strom, Samuel P; Clark, Michael J; Martinez, Ariadna et al. (2016) De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. PLoS One 11:e0150944
Daiger, Stephen P (2016) Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations. Invest Ophthalmol Vis Sci 57:4814
Ellingford, Jamie M; Barton, Stephanie; Bhaskar, Sanjeev et al. (2016) Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 53:761-767
Fahim, Abigail T; Daiger, Stephen P (2016) The Role of X-Chromosome Inactivation in Retinal Development and Disease. Adv Exp Med Biol 854:325-31
Shankar, Suma P; Hughbanks-Wheaton, Dianna K; Birch, David G et al. (2016) Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Invest Ophthalmol Vis Sci 57:349-59

Showing the most recent 10 out of 84 publications