Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer

Nat Commun. 2017 Apr 10:8:14929. doi: 10.1038/ncomms14929.

Abstract

Mammalian shelterin proteins POT1 and TPP1 form a stable heterodimer that protects chromosome ends and regulates telomerase-mediated telomere extension. However, how POT1 interacts with TPP1 remains unknown. Here we present the crystal structure of the C-terminal portion of human POT1 (POT1C) complexed with the POT1-binding motif of TPP1. The structure shows that POT1C contains two domains, a third OB fold and a Holliday junction resolvase-like domain. Both domains are essential for binding to TPP1. Notably, unlike the heart-shaped structure of ciliated protozoan Oxytricha nova TEBPα-β complex, POT1-TPP1 adopts an elongated V-shaped conformation. In addition, we identify several missense mutations in human cancers that disrupt the POT1C-TPP1 interaction, resulting in POT1 instability. POT1C mutants that bind TPP1 localize to telomeres but fail to repress a DNA damage response and inappropriate repair by A-NHEJ. Our results reveal that POT1 C terminus is essential to prevent initiation of genome instability permissive for tumorigenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Conserved Sequence
  • DNA Damage
  • DNA Mutational Analysis
  • DNA Repair
  • Genomic Instability
  • Humans
  • Mice
  • Models, Molecular
  • Molecular Chaperones / metabolism
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Phosphoproteins / metabolism
  • Prostaglandin-E Synthases
  • Protein Binding
  • Protein Structure, Secondary
  • Scattering, Small Angle
  • Shelterin Complex / genetics*
  • Shelterin Complex / metabolism
  • Structure-Activity Relationship
  • Telomere-Binding Proteins / chemistry*
  • Telomere-Binding Proteins / genetics*
  • Telomere-Binding Proteins / metabolism*
  • X-Ray Diffraction

Substances

  • ACD protein, human
  • Acd protein, mouse
  • Molecular Chaperones
  • POT1 protein, human
  • Phosphoproteins
  • Shelterin Complex
  • Telomere-Binding Proteins
  • PTGES3 protein, human
  • Prostaglandin-E Synthases