[5][8][9][11][15][16] In one model, PCNT complexes with CEP215 and is phosphorylated by PLK1, leading to PCM component recruitment and organization, centrosome maturation, and spindle formation.
[5][9][10][11][12] This ensures normal function and organization of the centrosomes, mitotic spindles, and cytoskeleton, and by extension, regulation over cell cycle progression and checkpoints.
[14][16] Moreover, microtubule functioning was also disrupted, resulting in mono- or multipolar spindles, chromosomal misalignment, premature sister chromatid separation, and aneuploidy.
[12] Mutations in the PCNT gene have been linked to Down syndrome (DS); two types of primordial dwarfism, MOPDII and Seckel syndrome; intrauterine growth retardation; cardiomyopathy; early onset type 2 diabetes; chronic myeloid leukemia (CML); bipolar affective disorder; and other congenital disorders.
[9][10][12][14][15][16] In particular, the short stature and small brain size characteristic of MOPDII and Seckel syndrome have been attributed to centrosome dysfunction and cell growth disruption as a result of PCNT malfunction.