MadSci Network: Biochemistry

Re: Factors that determine chromosome mutation at specific location

Date: Fri Mar 21 16:49:26 2008
Posted By: Jeff Buzby, Ph.D., CHOC Research Institute
Area of science: Biochemistry
ID: 1205708067.Bc

Dear Yow:

The father of the mutational "hot spot" concept was Dr. Seymour Benzer, who just passed away last yr. @ the age of 86. His pioneering molecular biological studies using deletion mapping of the bacteriophage T4 rII gene were conducted in the 1950's as a Professor of Neuroscience @ the California Institute of Technology (CalTech). However, he did not establish a conclusive explanation for his observation “that the distribution is not random...”.

Then in the late 1980's, CpG dinucleotide repeats, or 'islands', were found to comprise a strong "hot spot" for mutation by methylation-deamination to TpG, contributing to cancer & other genetic diseases in humans.

More recent studies, such as that published last yr. in BMC Evolutionary Biology, have suggested that the secondary structure of chromatin may also play a role in governing genomic mutation frequency.

Nevertheless, this remains an excellent question which does not yet have a final answer, but a number of clues that will undoubtedly lead to more interesting conclusions,

Jeff Buzby, Ph.D.
CHOC Research Institute

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