A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

ABSTRACT: Primordial growth failure has been linked to defects in the biology of cell division and replication. The complex processes involved in microtubule spindle formation, organization and function have emerged as a dominant patho-mechanism in these conditions. The majority of reported disease genes encode for centrosome and centriole proteins, leaving kinetochore proteins by which the spindle apparatus interacts with the chromosomes largely unaccounted for. We report a novel disease gene encoding the constitutive inner kinetochore member CENPT, which is involved in kinetochore targeting and assembly, resulting in severe growth failure in two siblings of a consanguineous family. We herein present studies on the molecular and cellular mechanisms that explain how genetic mutations in this gene le

SUBMITTER: Hung CY 

PROVIDER: S-EPMC5724856 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature