IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1.

ABSTRACT:

Background

The cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies, including polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), and oral-facial-digital syndrome type I (OFD1), which show genetic defects associated with cilia formation. Although an increasing number of human diseases is attributed to ciliary defects, the functions or regulatory mechanisms of several ciliopathy genes remain unclear. Because multi ciliated cells (MCCs) are especially deep in vivo, studying ciliogenesis is challenging. Here, we demonstrate that ik is essential for ciliogenesis in vivo.

Results

In the absence of ik, zebrafish embryos showed various ciliopathy phenotypes, such as body curvature, abnormal otol

SUBMITTER: Ka HI 

PROVIDER: S-EPMC10612314 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature