Germline mutation of <i>MDM4</i> , a major p53 regulator, in a familial syndrome of defective telomere maintenance
Eléonore Toufektchan, Vincent Lejour, Romane Durand, Neelam Giri, Irena Drašković, Boris Bardot, Pierre Laplante, Sara Jaber, Blanche P. Alter, Arturo Londoño‐Vallejo, Sharon A. Savage, Franck Toledo
Abstract
mutant mice, suggesting an explanation for the variable expressivity of disease symptoms in the family. Our data indicate that a germline activation of the p53 pathway may cause telomere dysfunction and point to polymorphisms affecting this pathway as potential genetic modifiers of telomere biology and bone marrow function.
Topics & Concepts
TelomereGermlineRegulatorMutationGeneticsGermline mutationBiologyDNAGeneCancer-related Molecular PathwaysTelomeres, Telomerase, and SenescenceCancer Research and Treatments