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Related Experiment Videos

Increased trinucleotide repeat instability with advanced maternal age

M D Kaytor1, E N Burright, L A Duvick

  • 1Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA.

Human Molecular Genetics
|November 5, 1997
PubMed
Summary

Maternal age influences nucleotide repeat instability in mammals. Expanded CAG trinucleotide repeats showed instability in transgenic mice, particularly with advanced maternal age, occurring before fertilization.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Nucleotide repeat instability is linked to cancers and neurological disorders.
  • The underlying mechanisms of repeat instability remain poorly understood.

Purpose of the Study:

  • To investigate the genetic factors contributing to nucleotide repeat instability.
  • To examine intergenerational transmission of expanded trinucleotide repeats.

Main Methods:

  • Introduction of an expanded CAG trinucleotide repeat into transgenic mice.
  • Analysis of intergenerational repeat instability based on maternal transmission.
  • Examination of triplet repeat variations in unfertilized oocytes.

Main Results:

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  • Intergenerational CAG repeat instability was observed only with maternal transmission of the transgene.
  • Instability increased in frequency and magnitude with the age of the transgenic mother.
  • Triplet repeat variations in unfertilized oocytes mirrored those in offspring.

Conclusions:

  • Maternal repeat instability in these mice occurs post-meiotic DNA replication and pre-fertilization.
  • Advanced maternal age is a significant factor in mammalian DNA nucleotide repeat instability.