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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 20 October 2021

Mobile DNA elements

Mobile DNA elements

(p.195) Chapter 8 Mobile DNA elements
Human Genetic Diversity

Julian C. Knight

Oxford University Press

In this chapter the remarkable extent of mobile DNA elements within the human genome is reviewed. The concept of mobile DNA elements as genomic parasites is discussed including how such elements are now almost exclusively inactive. The analysis of how mobile DNA elements provide a 'fossil record' of past transposition events is reviewed together with the evolutionary insights this has provided. The dispersal and accumulation of mobile DNA elements in eukaryotes is described together including how this has contributed to the complexity and plasticity of our genome. DNA transposons, L1 retrotransposable elements, and Alu elements are all reviewed together with associations with genetic disease. Polymorphism seen among recent Alu and other mobile DNA elements is discussed including how this has contributed to our understanding of human population genetics and evolutionary history. Evidence to support a recent African origins hypothesis is reviewed.

Keywords:   mobile DNA elements, retrotransposons, Alu elements, transposition, DNA transposons, long interspersed elements, short interspersed elements, recent African origins hypothesis, evolution, retrotransposable element

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