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Transposable elements. Paul Kalitsis. History. Barbara McClintock 1940s. History. Genetic loci could change position Theory of mobile or controlling elements Challenged the concept of a static genome Stopped publishing from 1953 Awarded the Nobel Prize in 1983. History cont’.
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Transposable elements Paul Kalitsis
History • Barbara McClintock 1940s
History • Genetic loci could change position • Theory of mobile or controlling elements • Challenged the concept of a static genome • Stopped publishing from 1953 • Awarded the Nobel Prize in 1983
History cont’ • Identified in bacteria and yeast in the late 60s and early 70s
Junk or Selfish DNA • No obvious role apart from self propagation • Variations in genome size
Genome size • C-value paradox • Maize 2,500 Mb • Arabidopsis 150 Mb • Lilium 35,000 Mb
Types of TEs • DNA transposons • Retrotransposons • Endogenous retroviruses
Function • Development • Imprinting • Tissue differentiation • Evolution
David Smyth School of Biological Sciences Monash University Lilium henryi
Dispersed repeat in L. henryi • 3.5 x 1010 bp • Distributed throughout the genome • Retrotransposon 9.35 kb
gag RT RH INT
Selfish DNA • Doolittle & Sapienza • Orgel & Crick (1980 Nature)
Genome defense • Recombination and deletion • RNAi pathway
Epigenetic control • Changes in DNA and/or protein • Gene expression • X-inactivation
Environment • Stress • Nutrition • Chemicals
Avy Avy Me Me IAP IAP Morgan et. al. 1999 Waterland and Jirtle 2003
Human disease • 0.5 – 1% • Cancer • Haemophilia • Muscular dystrophy
Applications • Mutagenesis • Gene delivery and therapy
Co-option • Immune system • Placental development • Telomere maintenance • Centromere • Epilepsy • Early development
Acknowledgments • Chromosome and Chromatin Group • Australian Research Council