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Bestcilia publication on novel gene related to outer dynein arm dysfunctions in PCD

October 2014 saw yet another important publication issued by the Bestcilia consortium. The laboratory of professor Heymut Omran (University of Münster, Germany) authored an article on a novel gene, CCDC151, which is related to the defects in outer dynein arm complex, one of the most frequent causative factors in primary ciliary dyskinesia.

Axonemal dyneins are motor proteins which generate the force for beating of cilia and flagella. The process of outer dynein arm (ODA) assembly on ciliary microtubules is mediated via the ODA docking complex. The publication revolves around CCDC151 mutations, which disrupt the formation of that complex and thus cause PCD.

Using the combined methods of high-throughput mapping and sequencing, the scientific team investigated five PCD sufferers from three unrelated families carrying CCDC151
loss-of-functions mutations.

The paper aims to demonstrate that defective assembly of CCDC151 into respiratory cilia is directly linked to failures in the assembly of both ODA and ODA docking machinery. The results obtained from human patients were consistent with those observed in certain animal species, including zebrafish, planaria and mice, lending credibility to the stipulated correlations.

Full article can be accessed here.