Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.

ABSTRACT:

Background

The male-abnormal 21 like (MAB21L) genes are important in human ocular development. Homozygous loss of MAB21L1 leads to corneal dystrophy in all affected individuals along with cataracts and buphthalmos in some. The molecular function and downstream pathways of MAB21L factors are largely undefined.

Results

We generated the first mab21l1 zebrafish mutant carrying a putative loss-of-function allele, c.107delA p.(Lys36Argfs*7). At the final stages of embryonic development, homozygous mab21l1^c.107delA fish displayed enlarged anterior chambers and corneal thinning which progressed with age. Additional studies revealed increased cell death in the mutant corneas, transformation of the cornea into a skin-like epithelium, and progressive lens degeneration with d

SUBMITTER: Seese SE 

PROVIDER: S-EPMC8349561 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature