The discovery and characterisation of tandem repeat DNA has been of fundamental importance in the analysis of human genetic variation. The nature and origins of satellite, minisatellite, and microsatellite DNA are reviewed. The diverse applications arising from study of highly polymorphic tandem repeats are described including application to mapping the human genome and disease genes, to forensic practice through techniques such as DNA fingerprinting, and to studies of human origins and evolutionary relationships. The consequences for gene expression are reviewed, including at the variable number tandem repeat upstream of the insulin gene associated with type 1 diabetes. The role of tandem repeats in human disease is discussed, including unstable trinucleotide repeat expansions seen in neurological diseases. Gain of function effects through polyglutamine expansions in Huntington disease and other conditions; loss of function mechanisms involving Fragile X and Friedrich ataxia; and RNA-mediated mechanisms seen in myotonic dystrophy are all reviewed.
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