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

Biemont & Vieira 2006 Nature

Lander 2001 Nature

genome.ucsc.edu

Function Development Imprinting Tissue differentiation Evolution

Lilium henryi David Smyth School of Biological Sciences Monash University

Dispersed repeat in L. henryi 3.5 x bp Distributed throughout the genome Retrotransposon 9.35 kb

gagRTRHINT

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

Morgan et. al Waterland and Jirtle 2003 IAP Avy IAP Avy Me

Biemont & Vieira 2006 Nature

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