New Publication in JCI!!

The Pearring Lab has a new publication out in JCI

Collaborative science at its best. Hanno Bolz and Elfride De Baere uncover a novel human frameshift mutation in the CEP162 gene (c.1935dupA) that leads to early truncation of the CEP162 protein (Glu646Argfs*5) in two patients with late-onset retinitis pigmentosa. This rare inherited blindness affects the retina’s ability to respond to light as photoreceptors degenerate over time. CEP162 is a protein that binds to both microtubules and centrosomes and plays a role in recruiting proteins to the base of the cilium during cilia formation. Many ciliary genes are implicated in retinitis pigmentosa because the light-sensitive compartment of photoreceptors is a modified primary cilium. In our study, we find the truncated CEP162 protein is expressed and retains microtubule binding properties but loses centrosome localization and function in the primary cilium. We go on to show that the truncated CEP162 protein is able to properly participate in retinal development, which suggests that its inability to function at the cilium is likely leading to the human pathology. 

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