Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies.

ABSTRACT:

Background

Mutations in the cone-rod-homeobox protein CRX are typically associated with dominant blinding retinopathies with variable age of onset and severity. Five well-characterized mouse models carrying different Crx mutations show a wide range of disease phenotypes. To determine if the phenotype variability correlates with distinct changes in CRX target gene expression, we perform RNA-seq analyses on three of these models and compare the results with published data.

Results

Despite dramatic phenotypic differences between the three models tested, graded expression changes in shared sets of genes are detected. Phenotype severity correlates with the down-regulation of genes encoding key rod and cone phototransduction proteins. Interestingly, in increasingly severe mouse mo

SUBMITTER: Ruzycki PA 

PROVIDER: S-EPMC4556057 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature