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ATM: from gene to function

G Rotman1, Y Shiloh

  • 1Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel. grotman@ccsg.tau.ac.il

Human Molecular Genetics
|September 15, 1998
PubMed

Insights

The ATM gene is crucial for DNA repair and cell cycle regulation, acting as a key regulator in response to DNA damage. Its protein product, ATM, plays a vital role in preventing diseases like ataxia telangiectasia and suppressing tumor formation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • The identification of the ATM gene linked to ataxia telangiectasia has spurred research into its protein product's functions.
  • ATM protein is a kinase, structurally similar to phosphatidylinositol 3-kinases.

Purpose of the Study:

  • To elucidate the multifaceted functions of the ATM protein.
  • To understand ATM's role in cellular responses to DNA damage and its implications in disease and tumorigenesis.

Main Methods:

  • Studies utilizing ataxia telangiectasia (A-T) cells.
  • Experiments with Atm-deficient mice models.

Main Results:

  • ATM is a key regulator of signaling cascades responding to DNA strand breaks.
  • ATM activation is involved in cell cycle checkpoints, DNA repair, and apoptosis.
  • Evidence suggests cytoplasmic ATM functions and a tumor-suppressive role in T cell lineages.

Conclusions:

  • ATM is a critical protein kinase involved in DNA damage response pathways.
  • ATM's functions extend beyond the nucleus and include tumor suppression.
  • Understanding ATM is vital for research into ataxia telangiectasia and cancer biology.

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