When cells divide, through a process called mitosis, the genetic information must be equally distributed among the new cells. That is the moment when mitotic errors might arise, potentially leading to damage in the DNA molecules that hold the genetic information (chromosomes) or to alterations in their number. These errors are associated with several human pathologies…
Defects in BUB1 have been associated with cancer, however, its role in congenital human development has remained unclear. Low expression of BUB1 has been associated with spontaneous miscarriages and given its importance for correct cell division, deleterious mutations in this gene were, until now, thought to be incompatible with life.