Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome

Hollies, C.R., Monckton, D.G. and Jeffreys, A.J. (2001) Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome. European Journal of Human Genetics, 9(2), 143 -146.

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Abstract

Dispersed repeat elements contribute to genome instability by de novo insertion and unequal recombination between repeats. To study the dynamics of these processes, we have developed single DNA molecule approaches to detect de novo insertions at a single locus and Alu-mediated deletions at two different loci in human genomic DNA. Validation experiments showed these approaches could detect insertions and deletions at frequencies below 10(-6) per cell. However, bulk analysis of germline (sperm) and somatic DNA showed no evidence for genuine mutant molecules, placing an upper limit of insertion and deletion rates of 2 x 10(-7) and 3 x 10(-7), respectively, in the individuals tested. Such re-arrangements at these loci therefore occur at a rate lower than that detectable by the most sensitive methods currently available.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Monckton, Professor Darren
Authors: Hollies, C.R., Monckton, D.G., and Jeffreys, A.J.
Subjects:Q Science > QH Natural history > QH426 Genetics
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:European Journal of Human Genetics
Publisher:Nature Publishing Group
ISSN:1018-4813
Copyright Holders:Copyright © 2001 Nature Publishing Group
First Published:First published in European Journal of Human Genetics 9(2):143-146
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

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