Minor spliceosome disease leads to chromosome segregation defects
Our new paper in the EMBO Journal links minor spliceosome to chromosome segregation. We identified the CCDC84/CENATAC protein as a novel component of the minor spliceosome. It has a striking specificity for supporting AT-AC subtype of minor introns, while GT-AG subtype is general less dependent of CENATAC. We further showed that mutations in CENATAC lead to Mosaic Variegated Aneuploidy and show that the cellular depletion of not only CENATAC but also ZRSR2, an another component of the minor spliceosome, leads to chromosome segregation defects. These results provide evidence of the functional link between minor spliceosome and mitotic regulation.
de Wolf, B., A. Oghabian, M. V. Akinyi, S. Hanks, E. C. Tromer, J. van Hooff, L. van Voorthuijsen, L. E. van Rooijen, J. Verbeeren, E. C. H. Uijttewaal, M. P. A. Baltissen, S. Yost, P. Piloquet, M. Vermeulen, B. Snel, B. Isidor, N. Rahman, M. J. Frilander and G. J. P. L. Kops (2021). Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.The EMBO Journal, in press.
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