Initiative Presentation at EMS Annual Meeting

An oral (platform) presentation describing the Mutation Research Genomics Initiative was made by Dr. Sylvia Milanez of the ORNL HG&T group at the 27th annual meeting of the Environmental Mutagen Society (Victoria, B.C., Canada) on March 27, 1996. The presentation outlined the possible benefits and applications of genome technologies and resources to the field of Mutation Research/Environmental mutagenesis. The plan to link these two areas by conducting a series of meetings and establishing collaborations between researchers was presented. The abstract submitted in conjunction with the oral presentation was published in Environ. Mol. Mutagen. 27 (suppl 27) 48 (1996).

Introducing Mutation Research Genomics: A New Generation of Mutation Research Studies Applying Genome Technology

Sylvia Milanez and John S. Wassom
Human Genome and Toxicology Group
Oak Ridge National Laboratory*
1060 Commerce Park MS-6480
Oak Ridge, Tennessee 37830

The field of mutation research is on the threshold of witnessing a profound change in the approaches available for identification of mutations in the genome and for understanding the processes of mutagenicity. The catalyst for this change comes from the technology and resources developed by investigators associated with the Human Genome Project and by others to quickly and accurately sequence DNA. Examples of sequencing technologies currently being developed are sequencing by hybridization (SBH) using semiconductor microchips or advanced fluidics microchips, multiplexed capillary array electrophoresis, and specific fluorescent DNA hybridization and whole chromosome labeling methods. The availability of the sequence of candidate genes and DNA fragments will enable the detection of specific mutations without sequencing using techniques such as single-strand conformation polymorphism (SSCP), denaturing gradient gel electrophoresis (DGGE), mass spectrometry, allele-specific PCR, chemical cleavage (e.g., by hydroxylamine and osmium tetroxide), carbodiimide modification of mismatched DNA duplexes, and RNAseA digestion of mismatched DNA-RNA duplexes. These technologies are ripe for incorporation into the field of mutation research by retooling existing mutagenicity assays and developing novel assays to detect both somatic and germ line mutations. The new generation of assays will offer unprecedented sensitivity to detect DNA alterations, revolutionizing our ability to evaluate the human health risks of spontaneous and induced mutations. A plan for carrying out this important initiative of merging human genome technologies with mutation research will be discussed.

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*Managed by Lockheed Martin Energy Research Corp. for the U.S. Department of Energy under contract number DE-AC05-96OR22464.

Oral Presentation

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