Tandem Repeat Polymorphisms

1. Front Matter

   Pages i-xix

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2. Tandem Repeat Polymorphisms

   • Anthony J. Hannan

   Pages 1-9

3. Evolution of Simple Sequence Repeats as Mutable Sites

   • David G. King

   Pages 10-25

4. Single Amino Acid and Trinucleotide Repeats

   • Noel Faux

   Pages 26-40

5. Promoter Microsatellites as Modulators of Human Gene Expression

   • Sterling M. Sawaya, Andrew T. Bagshaw, Emmanuel Buschiazzo, Neil J. Gemmell

   Pages 41-54

6. Dynamic Mutations

   • Clare L. van Eyk, Robert I. Richards

   Pages 55-77

7. Unstable Mutations in the FMR1 Gene and the Phenotypes

   • Danuta Loesch, Randi Hagerman

   Pages 78-114

8. Molecular Pathways to Polyglutamine Aggregation

   • Amy L. Robertson, Stephen P. Bottomley

   Pages 115-124

9. Polyglutamine Aggregation in Huntington and Related Diseases

   • Saskia Polling, Andrew F. Hill, Danny M. Hatters

   Pages 125-140

10. Selective Neurodegeneration, Neuropathology and Symptom Profiles in Huntington’s Disease

    • Henry J. Waldvogel, Doris Thu, Virginia Hogg, Lynette Tippett, Richard L. M. Faull

    Pages 141-152

11. Kennedy’s Disease

    • Jeffrey D. Zajac, Mark Ng Tang Fui

    Pages 153-168

12. Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia

    • Louise A. Corben, Nellie Georgiou-Karistianis, John L. Bradshaw, Marguerite V. Evans-Galea, Andrew J. Churchyard, Martin B. Delatycki

    Pages 169-184

13. Polyalanine Tract Disorders and Neurocognitive Phenotypes

    • Cheryl Shoubridge, Jozef Gecz

    Pages 185-203

14. Back Matter

    Pages 205-208

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This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.

• Anthony J. Hannan
• Polymorphism
• Repeat Polymorphisms
• TRPs
• Tandem

• Florey Neuroscience Institutes, Melbourne Brain Centre, University of Melbourne, Parkville, Australia

  Anthony J. Hannan

ANTHO NY J. HANNAN is Head of the Neural Plasticity Laboratory, Florey Neuroscience Institutes and Associate Professor at the University of Melbourne, Parkville, Australia. Following undergraduate and PhD degrees at the University of Sydney, Anthony received postdoctoral neuroscience training at the University of Oxford, supported by a Nuffield Medical Fellowship. He currently holds an Australian Research Council (ARC) Future Fellowship (FT3) and an Honorary Senior Research Fellowship from the National Health and Medical Research Council (NHMRC). Main research interests include pathogenic mechanisms mediating Huntington’s disease and related tandem repeat expansion disorders, as well as other cognitive and psychiatric illnesses. In his laboratory, experimental models of gene‑environment interactions are used to explore experience‑dependent plasticity in the healthy and diseased brain.

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