The impact of recombination on human mutation load and disease
Recombination promotes genomic integrity among cells and tissues through double-strand break repair, and is critical for gamete formation and fertility through a strict regulation of the molecular mechanisms associated with proper chromosomal disjunction. In humans, congenital defects and recurrent...
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Published in | Philosophical transactions of the Royal Society of London. Series B. Biological sciences Vol. 372; no. 1736; p. 20160465 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
England
The Royal Society
19.12.2017
The Royal Society Publishing |
Subjects | |
Online Access | Get full text |
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Summary: | Recombination promotes genomic integrity among cells and tissues through double-strand break repair, and is critical for gamete formation and fertility through a strict regulation of the molecular mechanisms associated with proper chromosomal disjunction. In humans, congenital defects and recurrent structural abnormalities can be attributed to aberrant meiotic recombination. Moreover, mutations affecting genes involved in recombination pathways are directly linked to pathologies including infertility and cancer. Recombination is among the most prominent mechanism shaping genome variation, and is associated with not only the structuring of genomic variability, but is also tightly linked with the purging of deleterious mutations from populations. Together, these observations highlight the multiple roles of recombination in human genetics: its ability to act as a major force of evolution, its molecular potential to maintain genome repair and integrity in cell division and its mutagenic cost impacting disease evolution.
This article is part of the themed issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’. |
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Bibliography: | Theme issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’ compiled and edited by Jessica Stapley, Philine G. D. Feulner, Susan E. Johnston, Anna W. Santure and Carole M. Smadja These authors are joint first authors. One contribution of 13 to a theme issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’. |
ISSN: | 0962-8436 1471-2970 |
DOI: | 10.1098/rstb.2016.0465 |