SNRNP200

Disease Category: autosomal dominant

Patient Population:

Active Clinical Trials: None

Check clinicaltrials.gov for updates

Treatment Options: None known

Strategies to Preserve Eye Health: None

Institution(s) Conducting Research:

A FACE OF RP

Lance

Brooklyn, NY

IN THE NEWS

Jul 28, 2021

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.

Jan 21, 2021

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

The SNRNP200 gene plays a key role in the maturation of pre-mRNA splicing with the indication for the etiology of retinitis pigmentosa (RP).

Mar 22, 2020

Approaches to Characterize novel pathogenic missense Variants in PRPF31

RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.

Jul 1, 2019

Retinitis pigmentosa caused by variants in SNRNP200

SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

PRPF31 mutations cause photoreceptor loss and retinal degeneration. This finding prompted us to test the hypothesis that PRPF31 may play a critical role for pre-mRNA splicing of retina-specific genes. . . . Among the potential target genes identified by this approach are a number of retina-specific genes involved in phototransduction, the visual cycle, photoreceptor structure, transcription factors and other genes important for photoreceptor survival and function (Table 1). [Table 1 lists SNRNP.]

Read

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

Jun Yin, Jan Brocher, Utz Fischer, Christoph Winkler

| Molecular Neurodegeneration | Vol. 6, Issue 56 | 2011 | doi.org/10.1186/1750-1326-6-56

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent the second-largest contribution to RP after mutations in rhodopsin. These genes include PRPF3, PRPF8, PRPF31, PAP1 and

SNRN200. All these genes encode core components of the U4/ U6.U5 tri-snRNP complex which constitutes a major building block of the pre-mRNA processing spliceosome.

Read

Next Generation Sequencing of Pooled Samples Reveals New SNRNP200 Mutations Associated with Retinitis Pigmentosa

Paola Benaglio, Terri L. McGee, Leonardo P. Capelli, Shyana Harper, Eliot L. Berson, Carlo Rivolta |Human Mutation: Mutation in Brief | Vol. 32 | 2246–E2258 | 2011 Feb 8

The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre- mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa (adRP), a retinal degenerative disease, in two families from China. In this work we analyzed the entire 35-Kb SNRNP200 genomic region in a cohort of 96 unrelated North American patients with adRP.

Read

UPDATE

Update

UPDATE

Update

ADD NEW ARTICLE