MEDomics Mutation Expert Presents the Tarzan Model of Mutagenesis at the 2011 Plant and Animal Genome Conference

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MEDomics is the physician’s DNA Diagnostic Partner in Providing Personalized Medicine

MEDomics provides next generation (NextGen) sequence-based DNA diagnostic testing to enable personalized medicine in the genomics era and is transforming diagnostic testing for mitochondrial diseases. The staff at MEDomics “live and breathe” mitochondrial medicine says Steve S. Sommer, MD, PhD, Founder, President and Senior Clinical Molecular Geneticists.

At the 2011 Plant and Animal Genome Conference in San Diego, CA, MEDomics presented a model of a type of mutation that involves a co-localized insertion and deletion. About 0.5% of mutations are of this type. Some of these mutations may be the “scars” of the bypass of DNA adducts that might have been lethal to the cell if not repaired (since blocking DNA lesions would kill the cell). Bill Scaringe, Mutation Expert and Director of Bioinformatics at MEDomics, presented a model involving a rescue mechanism that recruits special DNA polymerases. These special polymerases can bypass a lesion derived from DNA damage but not without cost; they are low fidelity and tend to introduce errors. The model, called the “Tarzan” model, predicts that an error-prone polymerase copies some nearby sequence to obtain enough of a “vine” (the inserted sequence) to swing across the bulky DNA lesion. Bypass typically results in the deletion of some of the original sequence surrounding the lesion. The result is that a lesion that is potentially lethal to the cell is bypassed but the DNA is not replicated perfectly; some sequence is deleted and an imperfect copy of some nearby sequence is inserted. Such a mutation can cause disease. This is one the many types of mutations being studied by the mutation experts at MEDomics.

“In simple and colloquial terms, a Jammed And Not Extendable (JANE) standard DNA polymerase recruits a Tarzan polymerase to save the cell”, says Dr. Sommer.

MEDomics, LLC (http://www.medomics.com) is a molecular diagnostic laboratory founded in 2008, with the mission of providing Mutation Expert-based Diagnosis ("MED") to support the physician in delivering personalized medicine based on analysis of the patient's genome ("omics"). MEDomics was the first CLIA Certified Laboratory specializing in the clinical diagnostic application of Next Generation sequencing. The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.

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