POT of gold: modeling dyskeratosis congenita in the mouse.
Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp. 1773-1785) report a new mouse model that reconstitutes key features of DC. Disease phenotypes are generated by a POT1b deletion in a telomerase-deficient background that accelerates the shortening of telomeres by degradation.
Autexier
Chantal
C
Department of Anatomy and Cell Biology and Department of Medicine, McGill University, Montreal, Quebec H3T 1E2, Canada. chantal.autexier@mcgill.ca
D000818:Animals; D001853:Bone Marrow / Q000002:abnormalities / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D004195:Disease Models, Animal; D019871:Dyskeratosis Congenita / Q000235:genetics / Q000473:pathology; D051379:Mice; D012880:Skin Pigmentation; D019098:Telomerase / Q000235:genetics / Q000378:metabolism*; D016615:Telomere / Q000648:ultrastructure*
D004268:DNA-Binding Proteins; C512707:POT1b protein, mouse; D019098:Telomerase