Biased gene conversion and the evolution of mammalian genomic landscapes
Abstract
Recombination is typically thought of as a symmetrical process resulting in large-scale reciprocal genetic exchanges between homologous chromosomes. Recombination events, however, are also accompanied by short-scale, unidirectional exchanges known as gene conversion in the neighborhood of the initiating double-strand break. A large body of evidence suggests that gene conversion is GC-biased in many eukaryotes, including mammals and human. AT/GC heterozygotes produce more GC- than AT-gametes, thus conferring a population advantage to GC-alleles in high-recombining regions. This apparently unimportant feature of our molecular machinery has major evolutionary consequences. Structurally, GC-biased gene conversion explains the spatial distribution of GC-content in mammalian genomes—the so-called isochore structure. Functionally, GC-biased gene conversion promotes the segregation and fixation of deleterious AT → GC mutations, thus increasing our genomic mutation load. Here we review the recent evidence for a GC-biased gene conversion process in mammals, and its consequences for genomic landscapes, molecular evolution, and human functional genomics.
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GC-biased gene conversion (gBGC) is one of the factors that can increase local substitution rates across the genome and is often a confounding factor for the detection of adaptive evolution.
“GC-biased gene conversion (gBGC) is one of the factors that can increase local substitution rates across the genome and is often a confounding factor for the detection of adaptive evolution (Duret and Galtier 2009; Kostka et al. 2012; Capra et al. 2013).”
From Bayesian Detection of Convergent Rate Changes of Conserved Noncoding Elements on Phylogenetic Trees (2019) · cites this paper as Duret and Galtier 2009
Cites
Genome analysis of the platypus reveals unique signatures of evolution
paper, A. L. O. A. A. T. A. A. A. T. E. O. T. (2008) · Nature · doi:10.1038/nature06936 · Cited by 719 · see citing works
Forces shaping the fastest evolving regions in the human genome
Pollard, K. S., Salama, S. R., King, B., Kern, A. D., Dreszer, T., Katzman, S., Siepel, A., Pedersen, J. S., Bejerano, G., Baertsch, R., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020168 · Cited by 511 · see citing works
An evolutionary view of human recombination
Coop, G., & Przeworski, M. (2007) · Nature Reviews Genetics · doi:10.1038/nrg1947 · Cited by 344 · see citing works
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A draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318 · see citing works
Whole-genome analyses resolve early branches in the tree of life of modern birds
Jarvis, E. D., Mirarab, S., Aberer, A. J., Li, B., Houde, P., Li, C., Ho, S. Y. W., Faircloth, B. C., Nabholz, B., Howard, J. T., et al. (2014) · Science · doi:10.1126/science.1253451 · Cited by 1,901 · see citing works
The evolution of gene expression levels in mammalian organs
Brawand, D., Soumillon, M., Necsulea, A., Julien, P., Csárdi, G., Harrigan, P., Weier, M., Liechti, A., Aximu-Petri, A., Kircher, M., et al. (2011) · Nature · doi:10.1038/nature10532 · Cited by 1,248 · see citing works
Human-specific loss of regulatory DNA and the evolution of human-specific traits
McLean, C. Y., Reno, P. L., Pollen, A. A., Bassan, A. I., Capellini, T. D., Guenther, C., Indjeian, V. B., Lim, X., Menke, D. B., Schaar, B. T., et al. (2011) · Nature · doi:10.1038/nature09774 · Cited by 535 · see citing works
Determinants of Mutation Rate Variation in the Human Germline
Ségurel, L., Wyman, M. J., & Przeworski, M. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-031714-125740 · Cited by 289 · see citing works
Chromatin accessibility dynamics in a model of human forebrain development
Trevino, A. E., Sinnott-Armstrong, N., Andersen, J., Yoon, S.-J., Huber, N., Pritchard, J. K., Chang, H. Y., Greenleaf, W. J., & Pașca, S. P. (2020) · Science · doi:10.1126/science.aay1645 · Cited by 251 · see citing works
GC content shapes mRNA storage and decay in human cells
Courel, M., Clément, Y., Bossevain, C., Foretek, D., Vidal Cruchez, O., Yi, Z., Bénard, M., Benassy, M.-N., Kress, M., Vindry, C., et al. (2019) · eLife · doi:10.7554/elife.49708 · Cited by 250 · see citing works
The Human Condition—A Molecular Approach
Pääbo, S. (2014) · Cell · doi:10.1016/j.cell.2013.12.036 · Cited by 197 · see citing works
Genetics of autoimmune diseases: Insights from population genetics
Ramos, P. S., Shedlock, A. M., & Langefeld, C. D. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.94 · Cited by 173 · see citing works
Death of <i>PRDM9</i> coincides with stabilization of the recombination landscape in the dog genome
Axelsson, E., Webster, M. T., Ratnakumar, A., The LUPA Consortium, Ponting, C. P., & Lindblad-Toh, K. (2012) · Genome Research · doi:10.1101/gr.124123.111 · Cited by 142 · see citing works
Pouyet, F., Aeschbacher, S., Thiéry, A., & Excoffier, L. (2018) · eLife · doi:10.7554/elife.36317 · Cited by 153 · see citing works
“However, regions of high recombination might be prone to GC-biased gene conversion (gBGC), a process by which GC alleles in recombination tracts are preferentially transmitted in GC/AT heterozygotes (Duret and Galtier, 2009).”
BackgroundThree-dimensional genome rewiring in loci with human accelerated regions
Keough, K. C., Whalen, S., Inoue, F., Przytycki, P. F., Fair, T., Deng, C., Steyert, M., Ryu, H., Lindblad-Toh, K., Karlsson, E., et al. (2023) · Science · doi:10.1126/science.abm1696 · Cited by 113 · see citing works
Increased mutation and gene conversion within human segmental duplications
Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature · doi:10.1038/s41586-023-05895-y · Cited by 104 · see citing works
The role of GC-biased gene conversion in shaping the fastest evolving regions of the human genome
Kostka, D., Hubisz, M. J., Siepel, A., & Pollard, K. S. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/msr279 · Cited by 102 · see citing works
Bayesian Detection of Convergent Rate Changes of Conserved Noncoding Elements on Phylogenetic Trees
Hu, Z., Sackton, T. B., Edwards, S. V., & Liu, J. S. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz049 · Cited by 69 · see citing works
Analysis of human accelerated DNA regions using archaic hominin genomes
Burbano, H. A., Green, R. E., Maricic, T., Lalueza-Fox, C., de la Rasilla, M., Rosas, A., Kelso, J., Pollard, K. S., Lachmann, M., & Pääbo, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032877 · Cited by 46 · see citing works
The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes
Zhou, H., Gong, H., Wang, J., Luo, Y., Li, S., Tao, J., & Hickford, J. G. H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222312838 · Cited by 31 · see citing works
Vertebrate codon bias indicates a highly GC-rich ancestral genome
Nabiyouni, M., Prakash, A., & Fedorov, A. (2013) · Gene · doi:10.1016/j.gene.2013.01.033 · Cited by 25 · see citing works
Mozzi, A., Forni, D., Cagliani, R., Pozzoli, U., Clerici, M., & Sironi, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-06440-4 · Cited by 19 · see citing works
Revised time estimation of the ancestral human chromosome 2 fusion
Poszewiecka, B., Gogolewski, K., Stankiewicz, P., & Gambin, A. (2022) · BMC Genomics · doi:10.1186/s12864-022-08828-7 · Cited by 20 · see citing works
“Importantly, it has been broadly discussed that BGC may be one of the main evolutionary mechanism [14, 15].”
Mammalian viviparity: a complex niche in the evolution of genomic imprinting
Keverne, E. B. (2014) · Heredity · doi:10.1038/hdy.2014.8 · Cited by 17 · see citing works
- Authors
- Duret, L., & Galtier, N.
- Affiliations
- Lyon 1 Université (FR)
- Centre National de la Recherche Scientifique (FR)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2009-09-01
- Volume
- 10
- Issue
- 1
- Pages
- 285-311
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2100238259
- Cited by
- 737
- References
- 3
- Citations by year
- 2026: 35 · 2025: 33 · 2024: 46 · 2023: 46 · 2022: 32 · 2021: 80 · 2020: 36 · 2019: 44 · 2018: 26 · 2017: 45 · 2016: 33 · 2015: 44 · 2014: 45 · 2013: 58 · 2012: 42
- FWCI
- 3.84
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-08-GENM-0036)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- GC-biased gene conversion, recombination, mammalian genomes, isochore structure, GC content, deleterious mutation load, mutation fixation, molecular evolution, DNA double-strand break repair
- MeSH terms
- Animals, Base Composition, Gene Conversion, Humans, Mammals, Selection, Genetic, Genome, Evolution, Molecular
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