Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish

ABSTRACT:

Background

Frameshift mutations in LRPAP1 are responsible for autosomal recessive high myopia in human beings but its underlying mechanism remains elusive. This study aims to investigate the effect of LRPAP1 defect on ocular refractive development and its involved mechanism.

Methods

A lrpap1 mutant zebrafish line with homozygous frameshift mutation was generated by CRISPR/Cas9 technology and confirmed by Sanger sequencing. The ocular refractive phenotype was analyzed by calculating the relative refractive error (RRE) with vivo photography and histological analysis at different development stages, together with examining ocular structure change via transmission electron microscopy. Further, RNA sequencing and bioinformatics analysis were performed. The potentially involved

SUBMITTER: Liu S 

PROVIDER: S-EPMC9580148 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature