Press release

 

A new biological mechanism that guarantees the stability of the human genome

Paris, January 10, 2002

 

DNA repair mechanisms ensure that the genetic information contained in the nucleus of the cells of living organisms will remain intact from one generation to the next. One repair mechanism in particular eliminates a certain number of lesions of DNA damaged by endogenous and exogenous agents. Alexander Ishchenko and Murat Saparbaev, researchers working on a CNRS team(1) , have just elucidated a new pathway, which makes it possible to identify new genes that predispose humans to cancer. From a pharmacological point of view, this discovery, published in the January 10, 2002 issue of Nature, opens horizons for new targets for specific cancer chemotherapies.


Life in the presence of oxygen leads to the production of highly reactive derivatives of this molecule, known as reactive oxygen species (ROS)(2) . More than one hundred lesions on the DNA(3) , which holds the hereditary material of living organisms, induced by these ROS are known to researchers. During DNA replication, these lesions, including the modified bases, can have two particularly damaging effects. They can either block DNA replication and lead to cell death, or cause modification of the genetic information. In the second case, this gives rise to a mutation that may induce the cancerous process.

To combat the damaging effects of these lesions, living organisms are equipped with various mechanisms to repair DNA, thus ensuring the stability of the genome. Certain mechanisms eliminate the bases that have undergone structural alterations. In humans, some mechanisms may be defective and cause diseases such as Xeroderma Pigmentosum(4) , Ataxia Telangiectasia(5) and Cockayne's Syndrome(6). Defects present in other repair pathways are also implicated in the appearance of cancers of the breast and colon. It is therefore necessary to understand the various repair pathways that ensure that living organisms function correctly.

Research has brought to light DNA bases modified by small- or large-sized molecules, and repaired by specific repair mechanisms. Generally speaking, the bases modified by the ROS and the small-sized molecules are eliminated by the repair pathway known as "base excision." This particular repair mechanism also contributes to the stability of the genome. It involves the sequential action of various proteins, the first being a DNA glycosylase, an enzyme that specifically excises the modified base. J. Laval, working in Villejuif (France), established the first stages of the molecular mechanism of this repair pathway. However, this pathway did not explain certain genetic observations or the resistance of certain tumoral cells to the action of cytotoxic agents.

The new pathway described by Alexandre Ishchenko and Murat Saparbaev both repairs the DNA bases modified by small- or large-sized molecules and replaces them. This metabolic pathway is found in bacteria, yeast and humans. In the first stage, it requires a specific endonuclease, an enzyme that excises the strand of DNA next to the damaged base. In the subsequent stages, the modified base is eliminated and replaced by the original base through the sequential action of other enzymes. This repair pathway is an alternative to base excision repair. It has the advantage of not inducing mutagenic and/or cytotoxic molecular intermediates, and of being potentially more efficient for the cell.

This discovery explains a certain number of genetic observations in Escherichia coli and mice from a biological point of view. It makes it possible to identify new genes that predispose humans to cancers, and opens horizons for new therapeutic targets.

Reference: "Alternative nucleotide incision repair pathway for oxydative DNA damage" by Murat Saparbaev and Alexander Ischenko, Nature, January 10, 2002.

(1) UMR 8532 CNRS- Laboratoire "Physicochimie et pharmacologie des macromolécules biologiques" (Physicochemistry and Pharmacology of Biological Macromolecules Laboratory), Director: C. Auclair, Institut Gustave Roussy, Villejuif, and LBPA-ENS, Cachan.
(2) ROS are generated by the cellular metabolism, certain drugs and ionizing radiation. If they are not eliminated, they react with the cellular constituents: DNA, proteins and lipids.
(3) DNA constitutes the genetic material of life. It is a double helix that contains the genetic code based on the reading of the sequence of the Adenine, Guanine, Thymine and Cytosine bases. An Adenine or Guanine base on a strand has a corresponding Thymine or Cytosine on the opposite strand. These are known as the complementary base pairs. If a base is damaged by ROS, the Adenine : Thymine or Guanine : Cytosine complementarity is modified and said to be erroneous.
(4) Patients suffering from Xeroderma Pigmentosum disease are highly sensitive to sunlight, and develop skin cancers at a very early age.
(5) Patients suffering from Ataxia Telangiectasia are hypersensitive to ionizing radiation.
(6) Patients with Cockayne's Syndrome develop, among other disorders, neurodegenerative disorders.


CNRS researcher contacts:
Dr. Saparbaev Murat
UMR 8532 CNRS
Institut Gustave-Roussy
Tel: + 33 1 42 11 54 04
E-mail: smurat@igr.fr

Dr. Jacques Laval
UMR 8532 CNRS
Institut Gustave Roussy
Tel: + 33 1 42 11 48 24
E-mail: jlaval@igr.fr

CNRS Life Sciences Department contact:
Marie-Pascale Corneloup-Brossollet
Tel: + 33 1 44 96 46 48
E-mail: marie.corneloup@cnrs-dir.fr

Press contact :

Stéphanie Bia
Tel: + 33 1 44 96 43 09
E-mail: stephanie.bia@cnrs-dir.fr