Molecular basis of telomere dysfunction in human genetic diseases

Abstract

Mutations in genes encoding proteins required for telomere structure, replication, repair and length maintenance are associated with several debilitating human genetic disorders. These complex telomere biology disorders (TBDs) give rise to critically short telomeres that affect the homeostasis of multiple organs. Furthermore, genome instability is often a hallmark of telomere syndromes, which are associated with increased cancer risk. Here, we summarize the molecular causes and cellular consequences of disease-causing mutations associated with telomere dysfunction.

Journal details

Volume 22
Issue number 11
Pages 867-874
Publication date

Crick authors

Crick First author
Crick Corresponding author