PC3 (BTG2/TIS21) possible role in chromosome instability syndromes

Chromosome instability syndromes (CIS) are autosomal recessive genetic disorders associated with defects in cell cycle regulation following DNA damage. Although most of the proteins involved in these syndromes have been identified as part of the MRN complex, little is known about their physiological functions and their interactions with other molecules that might explain the wide clinical presentation found in CIS patients. Here we discuss several observations suggesting that PC3 (BTG2/TIS21) – a protein involved in G1-S checkpoint progression control – might play a role in these pathologies.