Редактирование: CDC20

Cell division cycle protein 20 homolog (p55CDC)

==Publications==

{{medline-entry
|title=Premature aging syndrome showing random chromosome number instabilities with [[CDC20]] mutation.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/33094908
|abstract=Damage to the genome can accelerate aging. The percentage of aneuploid cells, that is, cells with an abnormal number of chromosomes, increases during aging; however, it is not clear whether increased aneuploidy accelerates aging. Here, we report an individual showing premature aging phenotypes of various organs including early hair loss, atrophic skin, and loss of hematopoietic stem cells; instability of chromosome numbers known as mosaic variegated aneuploidy (MVA); and spindle assembly checkpoint (SAC) failure. Exome sequencing identified a de novo heterozygous germline missense mutation of c.856C>A (p.R286S) in the mitotic activator [[CDC20]]. The mutant [[CDC20]] showed lower binding affinity to BUBR1 during the formation of the mitotic checkpoint complex ([[MCC]]), but not during the interaction between [[MCC]] and the anaphase-promoting complex/cyclosome (APC/C)-[[CDC20]] complex. While heterozygous knockout of [[CDC20]] did not induce SAC failure, knock-in of the mutant [[CDC20]] induced SAC failure and random aneuploidy in cultured cells, indicating that the particular missense mutation is pathogenic probably via the resultant imbalance between [[MCC]] and APC/C-[[CDC20]] complex. We postulate that accelerated chromosome number instability induces premature aging in humans, which may be associated with early loss of stem cells. These findings could form the basis of a novel disease model of the aging of the body and organs.

|keywords=* Cdc20 proteins
* M phase cell cycle checkpoints
* aging
* chromosomal instability
* chromosome segregation
* genomic instability
* premature
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681047
}}