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FB2026_01
,
released March 12, 2026
This report describes retinitis pigmentosa 11 (RP11), which is a subtype of retinitis pigmentosa. The human gene implicated in this disease is PRPF31, which is a component of the spliceosome. This form of retinitis pigmentosa is typically inherited as an autosomal dominant; it is is one of several subtypes of RP associated with genes involved in pre-mRNA splicing. There is a single Drosophila ortholog of PRPF31, Dmel\Prp31, for which RNAi-targeting constructs are available.
Several constructs of the human Hsap\PRPF31 gene designed to be expressed in the eye have been introduced into flies, including tagged wild-type PRPF31. Partial heterologous rescue (functional complementation) of the eye phenotype is observed when the wild-type human gene is expressed in conjunction with an RNAi construct that targets the endogenous Prp31 gene.
Animals in which an RNAi construct targeted against Dmel\Prp31 is expressed in the developing eye show variable eye defects in the adult. RNAi expression in other tissues results in a range of phenotypes, from lethality to neuroanatomy defects in the larval brain.
[updated Jun. 2017 by FlyBase; FBrf0222196]
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008; pubmed:18376416). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. [from MIM:268000; 2016.03.07]
The rate and extent of disease progression vary markedly among RP patients, in some cases, even within the same family. [from MIM:600059; 2020.08.04]
[RETINITIS PIGMENTOSA 11; RP11](https://omim.org/entry/600138)
[PRE-mRNA-PROCESSING FACTOR 31; PRPF31](https://omim.org/entry/606419)
See general description above.
In a study of 270 families with histories of autosomal dominant retinitis pigmentosa, mutations in the PRPF31 gene were found in 9% (Daiger et al., 2014; pubmed:25304133).
Retinitis pigmentosa 11 is caused by heterozygous mutation in the pre-mRNA processing factor 31 (PRPF31) gene; depending upon the specific variant, penetrance may be incomplete. [from MIM:600138; 2016.03.09]
PRPF31 is a component of the spliceosome complex. [from MIM:606419; 2016.03.09]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human PRPF31 (1 Drosophila to 1 human). Dmel\Prp31 shares 60% identity and 70% similarity with human PRPF31.