Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.

ABSTRACT: Usher syndrome (USH) is the most common form of hereditary deaf-blindness in humans. USH is a complex genetic disorder, assigned to three clinical subtypes differing in onset, course and severity, with USH1 being the most severe. Rodent USH1 models do not reflect the ocular phenotype observed in human patients to date; hence, little is known about the pathophysiology of USH1 in the human eye. One of the USH1 genes, USH1C, exhibits extensive alternative splicing and encodes numerous harmonin protein isoforms that function as scaffolds for organizing the USH interactome. RNA-seq analysis of human retinae uncovered harmonin_a1 as the most abundant transcript of USH1C. Bulk RNA-seq analysis and immunoblotting showed abundant expression of harmonin in Müller glia cells (MGCs) and retinal neuron

SUBMITTER: Nagel-Wolfrum K 

PROVIDER: S-EPMC9851744 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature