| Modification Notes |
Centrosomes are the major microtubule-organizing centers of mammalian cells. They are composed of a centriole pair and surrounding microtubule-nucleating material, termed pericentriolar material (PCM). Bipolar mitotic spindle assembly relies on two intertwined processes: centriole duplication and centrosome maturation. Failure to properly orchestrate centrosome duplication and maturation is subsequently linked to spindle defects, which can result in aneuploidy and promote cancer progression. The CEP290 (centrosomal protein of 290 kDa) gene encodes a protein of 2,479 amino acids that activates CREB-2-mediated transcription. Specifically, CEP290 ensures the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells. Mutations in the CEP290 gene have been identified in several diseases, including Joubert syndrome type 5 (JBTS5), Senior-Løken syndrome type 6 (SLSN6), Leber congenital amaurosis type 10 (LCA10) and Meckel syndrome type 4 (MKS4). |