Study of Gene-Targeted Mouse Models of Splicing Factor GenePrpf31Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

2009 ◽  
Vol 50 (12) ◽  
pp. 5927 ◽  
Author(s):  
Kinga Bujakowska ◽  
Cecilia Maubaret ◽  
Christina F. Chakarova ◽  
Naoyuki Tanimoto ◽  
Susanne C. Beck ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mouse Models ◽  
Autosomal Dominant ◽  
Splicing Factor ◽  
Autosomal Dominant Retinitis Pigmentosa

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor,PRPF31, in Patients with Autosomal Dominant Retinitis Pigmentosa

2007 ◽  
Vol 48 (3) ◽  
pp. 1330 ◽  
Author(s):  
Naushin H. Waseem ◽  
Veronika Vaclavik ◽  
Andrew Webster ◽  
Sharon A. Jenkins ◽  
Alan C. Bird ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Gene Coding

Mutations in the Pre-mRNA Splicing-Factor GenesPRPF3,PRPF8, andPRPF31in Spanish Families with Autosomal Dominant Retinitis Pigmentosa

2003 ◽  
Vol 44 (5) ◽  
pp. 2171 ◽  
Author(s):  
Mari´a Marti´nez-Gimeno ◽  
Mari´a Jose´ Gamundi ◽  
Imma Hernan ◽  
Miquel Maseras ◽  
Elena Milla´ ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
Autosomal Dominant Retinitis Pigmentosa

Gene of the month:PRPF31

2017 ◽  
Vol 70 (9) ◽  
pp. 729-732 ◽  
Author(s):  
Anna M Rose ◽  
Rong Luo ◽  
Utsav K Radia ◽  
Shomi S Bhattacharya
Keyword(s):  
Protein Structure ◽  
Retinitis Pigmentosa ◽  
Visual Impairment ◽  
Retinal Degeneration ◽  
Autosomal Dominant ◽  
Biological Function ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
Eukaryotic Cells ◽  
Autosomal Dominant Retinitis Pigmentosa

Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations inPRPF31cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations inPRPF31are non-penetrant, with some mutation carriers being phenotypically unaffected. In this review, the gene organisation, protein structure and biological function of PRPF31 are discussed, and the mechanisms of non-penetrance inPRPF31-associated adRP are discussed.

scholarly journals Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0170038 ◽  
Author(s):  
Caroline Van Cauwenbergh ◽  
Frauke Coppieters ◽  
Dimitri Roels ◽  
Sarah De Jaegere ◽  
Helena Flipts ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Splicing Factor ◽  
Autosomal Dominant Retinitis Pigmentosa
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