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Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
Published on: February 24, 2015
Genomic imprinting in unstable DNA diseases
1Neurogenetics Section, Clarke Institute of Psychiatry, Toronto, Ontario, Canada. petronisa@cs.clarke-inst.on.ca
Summary
Genomic imprinting may regulate meiotic recombination, potentially explaining unstable DNA diseases like Huntington's. Aberrant recombination linked to genomic imprinting defects offers new research avenues for these genetic disorders.
Area of Science:
- Genetics
- Molecular Biology
- Epigenetics
Background:
- Recombination suppression is observed in genetic linkage studies of unstable DNA diseases.
- Sex-specific alterations in recombination frequency are noted at loci for Huntington's disease and myotonic dystrophy.
Purpose of the Study:
- To hypothesize that genome-wide genomic imprinting regulates meiotic recombination.
- To suggest that altered meiotic recombination indicates a genomic imprinting defect.
Main Methods:
- Analysis of evidence from linkage studies.
- Detection of sex-specific changes in recombination frequency.
Main Results:
- Identification of recombination suppression in unstable DNA diseases.
- Observation of sex-specific recombination frequency changes at specific disease loci.
Conclusions:
- Meiotic recombination may be regulated by genome-wide genomic imprinting.
- Changes in meiotic recombination suggest potential genomic imprinting defects.
- Verifying aberrant recombination in trinucleotide repeat expansions could open new research avenues for unstable DNA diseases and genomic imprinting.
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