Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

Am J Hum Genet. 2007 Jul;81(1):77-86. doi: 10.1086/518696. Epub 2007 May 17.

Abstract

Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay. Impaired ATR signaling is also observed in cell lines from additional disorders characterized by microcephaly and growth delay, including non-ATR-SS, Nijmegen breakage syndrome, and MCPH1 (microcephaly, primary autosomal recessive, 1)-dependent primary microcephaly. Here, we examined ATR-pathway function in cell lines from three haploinsufficient contiguous gene-deletion disorders--a subset of blepharophimosis-ptosis-epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in which the deleted region encompasses ATR, RPA1, and RFC2, respectively. These three genes function in ATR signaling. Cell lines from these disorders displayed an impaired ATR-dependent DNA damage response. Thus, we describe ATR signaling as a pathway unusually sensitive to haploinsufficiency and identify three further human disorders displaying a defective ATR-dependent DNA damage response. The striking correlation of ATR-pathway dysfunction with the presence of microcephaly and growth delay strongly suggests a causal relationship.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia Mutated Proteins
  • Blepharophimosis / genetics
  • Blepharoptosis / genetics
  • Cell Cycle Proteins / genetics*
  • Cell Line
  • Chromosomes, Human, Pair 7 / genetics
  • DNA Damage / genetics*
  • Dwarfism / genetics*
  • Gene Deletion
  • Haploidy*
  • Humans
  • Microcephaly / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • RNA, Small Interfering / pharmacology
  • Replication Protein A / genetics
  • Replication Protein C / genetics
  • Signal Transduction / genetics
  • Syndrome
  • Williams Syndrome / genetics

Substances

  • Cell Cycle Proteins
  • RFC2 protein, human
  • RNA, Small Interfering
  • RPA1 protein, human
  • Replication Protein A
  • ATR protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases
  • Replication Protein C