Prpf31-flox Mouse

Prpf31, the pre-mRNA processing factor 31, is a ubiquitously expressed splicing factor. It aids in the assembly of the macromolecular spliceosome, an essential process in eukaryotic cells where intronic sequences are removed from pre-mRNA before translation into protein [1].

Mutations in Prpf31 cause autosomal dominant retinitis pigmentosa (PRPF31-RP), a form of retinal degeneration leading to progressive visual impairment. In prpf31 knockout zebrafish, the differentiation and viability of retinal progenitor cells (RPCs) are severely perturbed at an early embryonic stage, with significant mitotic arrest and DNA damage. These defects can be rescued by wild-type human PRPF31 but not disease-associated mutants. Prpf31 deletion predominantly causes the skipping of exons with a weak 5' splicing site, and genes for DNA repair and mitotic progression are most enriched among the differentially spliced events [2].

In conclusion, Prpf31 is crucial for the normal function of pre-mRNA splicing. Its role in the survival and differentiation of RPCs through modulating alternative splicing is significant. The study of Prpf31 in knockout zebrafish models has revealed its importance in retinal neurogenesis and provided insights into the pathogenesis of PRPF31-associated retinitis pigmentosa.