Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.

ABSTRACT: Bardet-Biedl syndrome (BBS) is a rare ciliopathy for which there are no current effective treatments. BBS is a genetically heterogeneous disease, though the M390R mutation in BBS1 is involved in ~25% of all genetic diagnoses of BBS. The principle features of BBS include retinal degeneration, obesity, male infertility, polydactyly, intellectual disability, and renal abnormalities. Patients with mutations in BBS genes often present with night blindness within the first decade of life, which progresses to complete blindness. This is due to progressive loss of photoreceptor cells. Male infertility is caused by a lack of spermatozoa flagella, rendering them immobile. In this study, we have crossed the wild-type human BBS1 gene, driven by the CAG promoter, onto the Bbs1^M390R/M390R mou

SUBMITTER: Cring MR 

PROVIDER: S-EPMC9422088 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature