Tandem Repeat Polymorphisms

This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease.

Focuses on key aspects of TRPs in health and disease Provides a detailed discussion of repeat sequences as mutable sites providing genetic variability upon which natural selection can act Provides insights into how expanded polyalanine in specific proteins leads to developmental abnormalities and neurocognitive dysfunction

Autorentext

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 geneenvironment interactions are used to explore experiencedependent plasticity in the healthy and diseased brain.

Inhalt

Tandem Repeat Polymorphisms: Mediators of Genetic Plasticity, Modulators of Biological Diversity and Dynamic Sources of Disease Susceptibility.- Evolution of Simple Sequence Repeats as Mutable Sites.- Single Amino Acid and Trinucleotide Repeats: Function and Evolution.- Promoter Microsatellites as Modulators of Human Gene Expression.- Dynamic Mutations: Where Are They Now.- Unstable Mutations in the FMR1 Gene and the Phenotypes.- Molecular Pathways to Polyglutamine Aggregation.- Polyglutamine Aggregation in Huntington and Related Diseases.- Selective Neurodegeneration, Neuropathology and Symptom Profiles in Huntington's Disease.- Kennedy's Disease: Clinical Significance of Tandem Repeat s in the Androgen Receptor.- Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia: A Systematic Review.- Polyalanine Tract Disorders and Neurocognitive Phenotypes.