PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

A second generation human haplotype map of over 3.1 million SNPs

The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438 · see citing works

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970 · see citing works

Linkage disequilibrium in the human genome

Reich, D., Cargill, M., Gabriel, S., Ireland, J. S., Sabeti, P. C., Richter, D. J., Lavery, T., Kouyoumjian, R., Farhadian, S., Ward, R. H., et al. (2001) · Nature · doi:10.1038/35075590 · Cited by 1,763 · see citing works

DNA Recognition by Cys₂His₂ Zinc Finger Proteins

Wolfe, S. A., Nekludova, L., & Pabo, C. O. (2000) · Annual Review of Biophysics and Biomolecular Structure · doi:10.1146/annurev.biophys.29.1.183 · Cited by 1,053 · see citing works

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

Baudat, F., Buard, J., Grey, C., Fledel-Alon, A., Ober, C., Przeworski, M., Coop, G., & de Massy, B. (2010) · Science · doi:10.1126/science.1183439 · Cited by 1,026 · see citing works

Drive Against Hotspot Motifs in Primates Implicates the <i>PRDM9</i> Gene in Meiotic Recombination

Myers, S., Bowden, R., Tumian, A., Bontrop, R. E., Freeman, C., MacFie, T. S., McVean, G., & Donnelly, P. (2010) · Science · doi:10.1126/science.1182363 · Cited by 683 · see citing works

<i>Prdm9</i> Controls Activation of Mammalian Recombination Hotspots

Parvanov, E. D., Petkov, P. M., & Paigen, K. (2010) · Science · doi:10.1126/science.1181495 · Cited by 610 · see citing works

Complex gene conversion events in germline mutation at human minisatellites

Jeffreys, A. J., Tamaki, K., MacLeod, A., Monckton, D. G., Neil, D. L., & Armour, J. A. L. (1994) · Nature Genetics · doi:10.1038/ng0294-136 · Cited by 490 · see citing works

A histone H3 methyltransferase controls epigenetic events required for meiotic prophase

Hayashi, K., Yoshida, K., & Matsui, Y. (2005) · Nature · doi:10.1038/nature04112 · Cited by 472 · see citing works

A common sequence motif associated with recombination hot spots and genome instability in humans

Myers, S. R., Freeman, C., Auton, A., Donnelly, P., & McVean, G. (2008) · Nature Genetics · doi:10.1038/ng.213 · Cited by 449 · see citing works

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., & Lupski, J. R. (1992) · Nature Genetics · doi:10.1038/ng1292-292 · Cited by 386 · see citing works

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E. (2008) · Nature Genetics · doi:10.1038/ng.2007.40 · Cited by 320 · see citing works

Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot

Jeffreys, A. J., & Neumann, R. (2002) · Nature Genetics · doi:10.1038/ng910 · Cited by 235 · see citing works

High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot

Jeffreys, A. J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.5.725 · Cited by 223 · see citing works

Mammalian recombination hot spots: properties, control and evolution

Paigen, K., & Petkov, P. M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2712 · Cited by 219 · see citing works

Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

Kong, A., Þorleifsson, G., Stefánsson, H., Másson, G., Helgason, A., Gudbjartsson, D. F., Jonsdottir, G. M., Gudjonsson, S. A., Sverrisson, S. Þ., Thorlacius, T., et al. (2008) · Science · doi:10.1126/science.1152422 · Cited by 219 · see citing works

High-Resolution Mapping of Crossovers in Human Sperm Defines a Minisatellite-Associated Recombination Hotspot

Jeffreys, A. J., Murray, J. M., & Neumann, R. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80138-0 · Cited by 217 · see citing works

Genetic Analysis of Variation in Human Meiotic Recombination

Chowdhury, R., Bois, P. R. J., Feingold, E., Sherman, S. L., & Cheung, V. G. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000648 · Cited by 166 · see citing works

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

Kurahashi, H., & Emanuel, B. S. (2001) · Nature Genetics · doi:10.1038/ng1001-139 · Cited by 145 · see citing works

Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot

Jeffreys, A. J., & Neumann, R. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi232 · Cited by 144 · see citing works

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Monckton, D. G., Neumann, R., Guram, T., Fretwell, N., Tamaki, K., MacLeod, A., & Jeffreys, A. J. (1994) · Nature Genetics · doi:10.1038/ng1094-162 · Cited by 118 · see citing works

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

Lindsay, S., Khajavi, M., Lupski, J. R., & Hurles, M. E. (2006) · The American Journal of Human Genetics · doi:10.1086/508709 · Cited by 103 · see citing works

Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation

Neumann, R., & Jeffreys, A. J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl063 · Cited by 90 · see citing works

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

Kurahashi, H., Shaikh, T. H., Zackai, E. H., Celle, L., Driscoll, D. A., Budarf, M. L., & Emanuel, B. S. (2000) · The American Journal of Human Genetics · doi:10.1086/303054 · Cited by 76 · see citing works

Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association

Webb, A. J., Berg, I. L., & Jeffreys, A. J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804933105 · Cited by 73 · see citing works

Genetic Variation Affects de Novo Translocation Frequency

Kato, T., Inagaki, H., Yamada, K., Kogo, H., Ohye, T., Kowa, H., Nagaoka, K., Taniguchi, M., Emanuel, B. S., & Kurahashi, H. (2006) · Science · doi:10.1126/science.1121452 · Cited by 65 · see citing works

Influences of array size and homogeneity on minisatellite mutation

Buard, J., Bourdet, A., Yardley, J., Dubrova, Y. E., & Jeffreys, A. J. (1998) · The EMBO Journal · doi:10.1093/emboj/17.12.3495 · Cited by 64 · see citing works

The rise and fall of a human recombination hot spot

Jeffreys, A. J., & Neumann, R. (2009) · Nature Genetics · doi:10.1038/ng.346 · Cited by 60 · see citing works

Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7

Tamaki, K., May, C. A., Dubrova, Y. E., & Jeffreys, A. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.879 · Cited by 52 · see citing works

Two Modes of Germline Instability at Human Minisatellite MS1 (Locus D1S7): Complex Rearrangements and Paradoxical Hyperdeletion

Berg, I., Neumann, R., Cederberg, H., Rannug, U., & Jeffreys, A. J. (2003) · The American Journal of Human Genetics · doi:10.1086/375629 · Cited by 23 · see citing works

De novo mutations in human genetic disease

Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works

Mechanisms underlying structural variant formation in genomic disorders

Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774 · see citing works

Meiotic recombination in mammals: localization and regulation

Baudat, F., Imai, Y., & de Massy, B. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3573 · Cited by 590 · see citing works

Mechanism and Regulation of Meiotic Recombination InitiationPreprint

Lam, I., & Keeney, S. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016634 · Cited by 457 · see citing works

The Genetics of Hybrid Incompatibilities

Maheshwari, S., & Barbash, D. A. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132514 · Cited by 439 · see citing works

Genetic recombination is directed away from functional genomic elements in mice

Brick, K., Smagulova, F., Khil, P., Camerini-Otero, R. D., & Petukhova, G. V. (2012) · Nature · doi:10.1038/nature11089 · Cited by 414 · see citing works

Initiation of Meiotic Recombination: How and Where? Conservation and Specificities Among Eukaryotes

de Massy, B. (2013) · Annual Review of Genetics · doi:10.1146/annurev-genet-110711-155423 · Cited by 397 · see citing works

Arabidopsis meiotic crossover hot spots overlap with H2A.Z nucleosomes at gene promoters

Choi, K., Zhao, X., Kelly, K. A., Venn, O., Higgins, J. D., Yelina, N. E., Hardcastle, T. J., Ziółkowski, P. A., Copenhaver, G. P., Franklin, F. C. H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2766 · Cited by 375 · see citing works

Stable recombination hotspots in birds

Singhal, S., Leffler, E. M., Sannareddy, K., Turner, I., Venn, O., Hooper, D. M., Strand, A. I., Li, Q., Raney, B. J., Balakrishnan, C. N., et al. (2015) · Science · doi:10.1126/science.aad0843 · Cited by 327 · see citing works

Mechanisms for recurrent and complex human genomic rearrangements

Liu, P., Carvalho, C. M. B., Hastings, P., & Lupski, J. R. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.012 · Cited by 344 · see citing works

Genome-wide analysis reveals novel molecular features of mouse recombination hotspots

Smagulova, F. O., Gregoretti, I. V., Brick, K., Khil, P. P., Camerini‐Otero, R. D., & Petukhova, G. V. (2011) · Nature · doi:10.1038/nature09869 · Cited by 340 · see citing works

Genomic Variation in Natural Populations ofDrosophila melanogaster

Langley, C. H., Stevens, K., Cardeno, C., Lee, Y. C. G., Schrider, D. R., Pool, J. E., Langley, S. A., Suarez, C., Corbett-Detig, R. B., Kolaczkowski, B. D., et al. (2012) · Genetics · doi:10.1534/genetics.112.142018 · Cited by 341 · see citing works

The landscape of recombination in African Americans

Hinch, A. G., Tandon, A., Patterson, N. J., Song, Y., Rohland, N., Palmer, C. D., Chen, G. K., Wang, K., Buxbaum, S. G., Akylbekova, E. L., et al. (2011) · Nature · doi:10.1038/nature10336 · Cited by 311 · see citing works

Recombination initiation maps of individual human genomes

Pratto, F., Brick, K., Khil, P., Smagulova, F., Petukhova, G. V., & Camerini-Otero, R. D. (2014) · Science · doi:10.1126/science.1256442 · Cited by 295 · see citing works

A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

Auton, A., Fledel-Alon, A., Pfeifer, S. P., Venn, O., Ségurel, L., Street, T. L., Leffler, E. M., Bowden, R. J., Aneas, I., Broxholme, J., et al. (2012) · Science · doi:10.1126/science.1216872 · Cited by 292 · see citing works

Genome-Wide Fine-Scale Recombination Rate Variation in Drosophila melanogaster

Chan, A. H., Jenkins, P. A., & Song, Y. S. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003090 · Cited by 292 · see citing works

Health and population effects of rare gene knockouts in adult humans with related parents

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science · doi:10.1126/science.aac8624 · Cited by 286 · see citing works

Self-Organization of Meiotic Recombination Initiation: General Principles and Molecular Pathways

Keeney, S., Lange, J., & Mohibullah, N. (2014) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092304 · Cited by 250 · see citing works

Human Y-chromosome variation in the genome-sequencing era

Jobling, M. A., & Tyler‐Smith, C. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.36 · Cited by 242 · see citing works

Genetic Recombination Is Targeted towards Gene Promoter Regions in Dogs

Auton, A., Li, Y. R., Kidd, J. M., Oliveira, K. C., Nadel, J., Holloway, J. K., Hayward, J. J., Cohen, P. E., Greally, J. M., Wang, J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003984 · Cited by 232 · see citing works

Differential relationship of DNA replication timing to different forms of human mutation and variation.

Koren, A., Polak, P., Nemesh, J., Michaelson, J. J., Sebat, J., Sunyaev, S., & Mccarroll, S. (2012) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.018 · Cited by 246 · see citing works

C2H2 Zinc Finger Proteins: The Largest but Poorly Explored Family of Higher Eukaryotic Transcription Factors

Fedotova, A., Bonchuk, A. N., Mogila, V., & Georgiev, P. G. (2017) · Acta Naturae · doi:10.32607/20758251-2017-9-2-47-58 · Cited by 219 · see citing works

Intraspecific variation of recombination rate in maize

Bauer, E., Falque, M., Walter, H., Bauland, C., Camisan, C., Campo, L., Meyer, N., Ranc, N., Rincent, R., Schipprack, W., et al. (2013) · Genome biology · doi:10.1186/gb-2013-14-9-r103 · Cited by 223 · see citing works

Re-engineering the zinc fingers of PRDM9 reverses hybrid sterility in mice

Davies, B., Hatton, E., Altemose, N., Hussin, J., Pratto, F., Zhang, G., Hinch, A. G., Moralli, D., Biggs, D., Diaz, R., et al. (2016) · Nature · doi:10.1038/nature16931 · Cited by 208 · see citing works

Mouse PRDM9 DNA-Binding Specificity Determines Sites of Histone H3 Lysine 4 Trimethylation for Initiation of Meiotic Recombination

Grey, C., Barthès, P., Friec, G. C.-L., Vives, F. L., Baudat, F., & de Massy, B. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001176 · Cited by 206 · see citing works

Recombination rate variation in closely related species

Heil, C. S., & Noor, M. A. F. (2011) · Heredity · doi:10.1038/hdy.2011.44 · Cited by 203 · see citing works

Recombination rate evolution and the origin of species

Ortiz-Barrientos, D., Engelstädter, J., & Rieseberg, L. H. (2016) · Trends in Ecology &amp; Evolution · doi:10.1016/j.tree.2015.12.016 · Cited by 202 · see citing works

PRDM proteins: important players in differentiation and disease

Fog, C. K., Galli, G. G., & Lund, A. H. (2012) · BioEssays · doi:10.1002/bies.201100107 · Cited by 201 · see citing works

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

Arbeithuber, B., Betancourt, A. J., Ebner, T., & Tiemann‐Boege, I. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1416622112 · Cited by 201 · see citing works

Epigenetic Remodeling of Meiotic Crossover Frequency in Arabidopsis thaliana DNA Methyltransferase Mutants

Yelina, N. E., Choi, K., Chelysheva, L. A., MacAulay, M. A., de Snoo, B., Wijnker, T. G., Miller, N. G. A., Drouaud, J., Grelon, M., Copenhaver, G. P., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002844 · Cited by 197 · see citing works

The Meiotic Recombination Activator PRDM9 Trimethylates Both H3K36 and H3K4 at Recombination Hotspots In Vivo

Powers, N. R., Parvanov, E. D., Baker, C. L., Walker, M., Petkov, P. M., & Paigen, K. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006146 · Cited by 196 · see citing works

Insights into mammalian biology from the wild house mouse Mus musculus

Phifer‐Rixey, M., & Nachman, M. W. (2015) · eLife · doi:10.7554/elife.05959 · Cited by 192 · see citing works

The Genetics of Microdeletion and Microduplication Syndromes: An Update

Watson, C. T., Marquès‐Bonet, T., Sharp, A. J., & Mefford, H. C. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153408 · Cited by 185 · see citing works

Inference and analysis of population-specific fine-scale recombination maps across 26 diverse human populations

Spence, J. P., & Song, Y. S. (2019) · Science Advances · doi:10.1126/sciadv.aaw9206 · Cited by 184 · see citing works

A high density recombination map of the pig reveals a correlation between sex-specific recombination and GC content

Tortereau, F., Servin, B., Frantz, L., Megens, H., Denis Milan, A., Rohrer, G. A., Wiedmann, R. T., Beever, J. E., Archibald, A. L., Schook, L. B., et al. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-586 · Cited by 171 · see citing works

PRDM9 and Its Role in Genetic Recombination

Paigen, K., & Petkov, P. M. (2018) · Trends in Genetics · doi:10.1016/j.tig.2017.12.017 · Cited by 161 · see citing works

Meiotic recombination hotspots – a comparative view

Choi, K., & Henderson, I. R. (2015) · The Plant Journal · doi:10.1111/tpj.12870 · Cited by 150 · see citing works

Sex Differences in the Recombination Landscape

Sardell, J. M., & Kirkpatrick, M. (2019) · The American Naturalist · doi:10.1086/704943 · Cited by 149 · see citing works

Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution

Lupski, J. (2015) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21943 · Cited by 156 · see citing works

Genetic Variants in REC8, RNF212, and PRDM9 Influence Male Recombination in Cattle

Sandor, C., Li, W., Coppieters, W. R., Druet, T., Charlier, C., & Georges, M. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002854 · Cited by 151 · see citing works

Genomic disorders 20 years on—mechanisms for clinical manifestations

Harel, T., & Lupski, J. R. (2017) · Clinical Genetics · doi:10.1111/cge.13146 · Cited by 142 · see citing works

Repeated losses of PRDM9-directed recombination despite the conservation of PRDM9 across vertebrates

Baker, Z., Schumer, M. E., Haba, Y., Bashkirova, L., Holland, C., Rosenthal, G. G., & Przeworski, M. (2017) · eLife · doi:10.7554/elife.24133 · Cited by 146 · see citing works

Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences

Mani, R. S., & Chinnaiyan, A. M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2883 · Cited by 142 · 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

The evolutionary turnover of recombination hot spots contributes to speciation in micePreprint

Smagulova, F. O., Brick, K., Pu, Y., Camerini‐Otero, R. D., & Petukhova, G. V. (2016) · Genes & Development · doi:10.1101/gad.270009.115 · Cited by 138 · see citing works

Bhlhb5 and Prdm8 form a repressor complex involved in neuronal circuit assembly

Ross, S. E., McCord, A. E., Jung, C., Atan, D., Mok, S. I., Hemberg, M., Kim, T.-K., Salogiannis, J., Hu, L., Cohen, S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2011.09.035 · Cited by 137 · see citing works

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Cooper, D. N., Bacolla, A., Férec, C., Vásquez, K. M., Kehrer‐Sawatzki, H., & Chen, J. (2011) · Human Mutation · doi:10.1002/humu.21557 · Cited by 133 · see citing works

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

Berg, I. L., Neumann, R., Sarbajna, S., Odenthal-Hesse, L., Butler, N. J., & Jeffreys, A. J. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1109531108 · Cited by 132 · see citing works

PRDM9 binding organizes hotspot nucleosomes and limits Holliday junction migrationPreprint

Baker, C. L., Walker, M., Kajita, S., Petkov, P. M., & Paigen, K. (2014) · Genome Research · doi:10.1101/gr.170167.113 · Cited by 133 · see citing works

Juxtaposition of heterozygous and homozygous regions causes reciprocal crossover remodelling via interference during Arabidopsis meiosis

Ziółkowski, P. A., Berchowitz, L. E., Lambing, C., Yelina, N. E., Zhao, X., Kelly, K. A., Choi, K., Ziolkowska, L., June, V. M., Sánchez‐Morán, E., et al. (2015) · eLife · doi:10.7554/elife.03708 · Cited by 130 · see citing works

PRDM9 Methyltransferase Activity Is Essential for Meiotic DNA Double-Strand Break Formation at Its Binding Sites

Diagouraga, B., Clément, J. A. J., Duret, L., Kadlec, J., de Massy, B., & Baudat, F. (2018) · Molecular Cell · doi:10.1016/j.molcel.2018.01.033 · Cited by 128 · see citing works

Hotspots of Human Mutation

Nesta, A. V., Tafur, D., & Beck, C. R. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.10.003 · Cited by 126 · see citing works

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

Liu, P., Lacaria, M., Zhang, F., Withers, M. A., Hastings, P. J., & Lupski, J. R. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.009 · Cited by 125 · see citing works

Factors influencing meiotic recombination revealed by whole-genome sequencing of single sperm

Hinch, A. G., Zhang, G., Becker, P., Moralli, D., Hinch, R., Davies, B., Bowden, R. J., & Donnelly, P. (2019) · Science · doi:10.1126/science.aau8861 · Cited by 124 · see citing works

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Campbell, I. M., Stewart, J. R., James, R. A., Lupski, J. R., Stankiewicz, P., Olofsson, P., & Shaw, C. A. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.010 · Cited by 122 · see citing works

Formation of pearl-necklace monomorphic G-quadruplexes in the human CEB25 minisatellite.

Amrane, S., Adrian, M., Heddi, B., Serero, A., Nicolas, A., Mergny, J., & Phan, A. (2012) · Journal of the American Chemical Society · doi:10.1021/ja208993r · Cited by 107 · see citing works

Contrasted Patterns of Crossover and Non-crossover at Arabidopsis thaliana Meiotic Recombination Hotspots

Drouaud, J., Khademian, H., Giraut, L., Zanni, V., Bellalou, S., Henderson, I. R., Falque, M., & Mézard, C. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003922 · Cited by 117 · see citing works

Variation in Human Recombination Rates and Its Genetic Determinants

Fledel-Alon, A., Leffler, E. M., Guan, Y., Stephens, M., Coop, G., & Przeworski, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020321 · Cited by 115 · see citing works

PRDM9, a driver of the genetic map

Grey, C., Baudat, F., & de Massy, B. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007479 · Cited by 114 · see citing works

Insights into variation in meiosis from 31,228 human sperm genomes

Bell, A. D., Mello, C. J., Nemesh, J. C., Brumbaugh, S. A., Wysoker, A., & McCarroll, S. A. (2020) · Nature · doi:10.1038/s41586-020-2347-0 · Cited by 108 · see citing works

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

Elinati, E., Kuentz, P., Redin, C. E., Jaber, S., Meerschaut, F. V., Makarian, J., Koscinski, I., Nasr‐Esfahani, M. H., Demi̇rol, A., Gürgan, T., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds200 · Cited by 113 · see citing works

Spotting the enemy within: Targeted silencing of foreign DNA in mammalian genomes by the Krüppel-associated box zinc finger protein family

Wolf, G., Greenberg, D., & Macfarlan, T. S. (2015) · Mobile DNA · doi:10.1186/s13100-015-0050-8 · Cited by 109 · see citing works

Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays☆

Yauk, C. L., Aardema, M. J., van Benthem, J., Bishop, J. B., Dearfield, K. L., DeMarini, D. M., Dubrova, Y. E., Honma, M., Lupski, J. R., Marchetti, F., et al. (2015) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2015.01.008 · Cited by 112 · see citing works

Recombination rates in admixed individuals identified by ancestry-based inference

Wegmann, D., Kessner, D., Veeramah, K., Mathias, R., Nicolae, D., Yanek, L., Sun, Y. V., Torgerson, D., Rafaels, N., Mosley, T., et al. (2011) · Nature Genetics · doi:10.1038/ng.894 · Cited by 119 · see citing works

Trimethylation of Histone H3 Lysine 36 by Human Methyltransferase PRDM9 Protein

Eram, M. S., Bustos, S. P., Lima‐Fernandes, E., Siarheyeva, A., Senisterra, G. A., Hajian, T., Chau, I., Duan, S., Wu, H. Y., Dombrovski, L., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.523183 · Cited by 110 · see citing works

The Genetic Architecture of Natural Variation in Recombination Rate in Drosophila melanogaster

Hunter, C. M., Huang, W., Mackay, T. F. C., & Singh, N. D. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005951 · Cited by 108 · see citing works

Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions

Viana, J., Hannon, E., Dempster, E., Pidsley, R., Macdonald, R., Knox, O., Spiers, H., Troakes, C., Al-Saraj, S., Turecki, G., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw373 · Cited by 105 · see citing works

Escape from crossover interference increases with maternal age

Campbell, C. L., Furlotte, N. A., Eriksson, N., Hinds, D. A., & Auton, A. (2015) · Nature Communications · doi:10.1038/ncomms7260 · Cited by 105 · see citing works

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

Startek, M. P., Szafrański, P., Gambin, T., Campbell, I. M., Hixson, P. M., Shaw, C. A., Stankiewicz, P., & Gambin, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1394 · Cited by 104 · see citing works

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangementsPreprint

Song, X., Beck, C. R., Du, R., Campbell, I. M., Coban‐Akdemir, Z., Gu, S., Breman, A. M., Stankiewicz, P., Ira, G., Shaw, C. A., et al. (2018) · Genome Research · doi:10.1101/gr.229401.117 · Cited by 99 · see citing works

A high-resolution map of non-crossover events reveals impacts of genetic diversity on mammalian meiotic recombination

Li, R., Bitoun, E., Altemose, N., Davies, R. W., Davies, B., & Myers, S. R. (2019) · Nature Communications · doi:10.1038/s41467-019-11675-y · Cited by 99 · see citing works

Recombination Modulates How Selection Affects Linked Sites in Drosophila

McGaugh, S. E., Heil, C. S., Manzano‐Winkler, B., Loewe, L., Goldstein, S., Himmel, T. L., & Noor, M. A. F. (2012) · PLoS Biology · doi:10.1371/journal.pbio.1001422 · Cited by 98 · see citing works

High-Resolution Mapping of Crossover and Non-crossover Recombination Events by Whole-Genome Re-sequencing of an Avian Pedigree

Smeds, L., Mugal, C. F., Qvarnström, A., & Ellegren, H. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006044 · Cited by 94 · see citing works

Diversity and Determinants of Meiotic Recombination Landscapes

Zelkowski, M., Olson, M. A., Wang, M., & Pawlowski, W. P. (2019) · Trends in Genetics · doi:10.1016/j.tig.2019.02.002 · Cited by 96 · see citing works

Recombination in the Human Pseudoautosomal Region PAR1

Hinch, A. G., Altemose, N., Noor, N., Donnelly, P., & Myers, S. R. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004503 · Cited by 94 · see citing works

The Molecular Control of Meiotic Chromosomal Behavior: Events in Early Meiotic Prophase in Drosophila Oocytes

Lake, C. M., & Hawley, R. S. (2011) · Annual Review of Physiology · doi:10.1146/annurev-physiol-020911-153342 · Cited by 93 · see citing works

Genomic Networks of Hybrid Sterility

Turner, L. M., White, M. A., Tautz, D., & Payseur, B. A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004162 · Cited by 90 · see citing works

High-Resolution Mapping of Crossover Events in the Hexaploid Wheat Genome Suggests a Universal Recombination Mechanism

Darrier, B., Rimbert, H., Balfourier, F., Pingault, L., Josselin, A.-A., Servin, B., Navarro, J., Choulet, F., Paux, E., & Sourdille, P. (2017) · Genetics · doi:10.1534/genetics.116.196014 · Cited by 88 · see citing works

Hotspots for Initiation of Meiotic Recombination

Tock, A. J., & Henderson, I. R. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00521 · Cited by 88 · see citing works

Recombination affects accumulation of damaging and disease-associated mutations in human populations

Hussin, J., Hodgkinson, A., Idaghdour, Y., Grenier, J., Goulet, J.-P., Gbeha, E., Hip-Ki, E., & Awadalla, P. (2015) · Nature Genetics · doi:10.1038/ng.3216 · Cited by 81 · see citing works

What are the genomic drivers of the rapid evolution of PRDM9?

Ponting, C. P. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.02.001 · Cited by 85 · see citing works

Primate evolution of the recombination regulator PRDM9

Schwartz, J. J., Roach, D. J., Thomas, J. H., & Shendure, J. (2014) · Nature Communications · doi:10.1038/ncomms5370 · Cited by 83 · see citing works

Genetic Analysis of Genome-Scale Recombination Rate Evolution in House Mice

Dumont, B. L., & Payseur, B. A. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002116 · Cited by 83 · see citing works

The PRDM9 KRAB domain is required for meiosis and involved in protein interactions

Imai, Y., Baudat, F., Taillepierre, M., Stanzione, M., Tóth, A., & de Massy, B. (2017) · Chromosoma · doi:10.1007/s00412-017-0631-z · Cited by 83 · see citing works

Structure and Conformational Dynamics of a Stacked Dimeric G-Quadruplex Formed by the Human CEB1 Minisatellite

Adrian, M., Ang, D. J., Lech, C. J., Heddi, B., Nicolas, A. G., & Phan, A. T. (2014) · Journal of the American Chemical Society · doi:10.1021/ja4125274 · Cited by 81 · see citing works

Meiotic recombination mirrors patterns of germline replication in mice and humans

Pratto, F., Brick, K., Cheng, G., Lam, K.-W. G., Cloutier, J. M., Dahiya, D., Wellard, S. R., Jordan, P. W., & Camerini‐Otero, R. D. (2021) · Cell · doi:10.1016/j.cell.2021.06.025 · Cited by 80 · see citing works

Chromosomal translocations and palindromic AT-rich repeats

Kato, T., Kurahashi, H., & Emanuel, B. S. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.004 · Cited by 79 · see citing works

The Case of the Fickle Fingers: How the PRDM9 Zinc Finger Protein Specifies Meiotic Recombination Hotspots in Humans

Ségurel, L., Leffler, E. M., & Przeworski, M. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001211 · Cited by 77 · see citing works

The histone codes for meiosis

Wang, L., Xu, Z., Khawar, M. B., Liu, C., & Li, W. (2017) · Reproduction · doi:10.1530/rep-17-0153 · Cited by 77 · see citing works

DNA binding specificities of the long zinc-finger recombination protein PRDM9

Billings, T., Parvanov, E. D., Baker, C. L., Walker, M., Paigen, K., & Petkov, P. M. (2013) · Genome biology · doi:10.1186/gb-2013-14-4-r35 · Cited by 72 · see citing works

Understanding the Genetic Basis of Variation in Meiotic Recombination: Past, Present, and Future

Johnston, S. E. (2024) · Molecular Biology and Evolution · doi:10.1093/molbev/msae112 · Cited by 75 · see citing works

Deep Vertebrate Roots for Mammalian Zinc Finger Transcription Factor Subfamilies

Liu, H., Chang, L., Sun, Y., Lu, X., & Stubbs, L. J. (2014) · Genome Biology and Evolution · doi:10.1093/gbe/evu030 · Cited by 75 · see citing works

In vivo binding of PRDM9 reveals interactions with noncanonical genomic sitesPreprint

Grey, C., Clément, J. A. J., Buard, J., Leblanc, B., Gut, I. G., Gut, M. O., Duret, L., & de Massy, B. (2017) · Genome Research · doi:10.1101/gr.217240.116 · Cited by 74 · see citing works

Affinity-seq detects genome-wide PRDM9 binding sites and reveals the impact of prior chromatin modifications on mammalian recombination hotspot usage

Walker, M., Billings, T., Baker, C. L., Powers, N. R., Tian, H., Saxl, R. L., Choi, K., Hibbs, M., Carter, G. W., Handel, M. A., et al. (2015) · Epigenetics & Chromatin · doi:10.1186/s13072-015-0024-6 · Cited by 74 · see citing works

The Red Queen Model of Recombination Hotspots Evolution in the Light of Archaic and Modern Human Genomes

Lesecque, Y., Glémin, S., Lartillot, N., Mouchiroud, D., & Duret, L. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004790 · Cited by 74 · see citing works

Variation in Recombination Rate and Its Genetic Determinism in Sheep Populations

Petit, M., Astruc, J., Sarry, J., Drouilhet, L., Fabre, S., Moreno, C. R., & Servin, B. (2017) · Genetics · doi:10.1534/genetics.117.300123 · Cited by 71 · see citing works

Meiotic DSB patterning: A multifaceted process

Cooper, T. J., Garcia, V., & Neale, M. J. (2016) · Cell Cycle · doi:10.1080/15384101.2015.1093709 · Cited by 73 · see citing works

C2H2-Type Zinc Finger Proteins: Evolutionarily Old and New Partners of the Nuclear Hormone Receptors

Mackeh, R., Marr, A. K., Fadda, A. A., & Kino, T. (2018) · Nuclear Receptor Signaling · doi:10.1177/1550762918801071 · Cited by 71 · see citing works

Diversity of Prdm9 Zinc Finger Array in Wild Mice Unravels New Facets of the Evolutionary Turnover of this Coding Minisatellite

Buard, J., Rivals, É., de Segonzac, D. D., Garres, C., Caminade, P., de Massy, B., & Boursot, P. (2014) · PLoS ONE · doi:10.1371/journal.pone.0085021 · Cited by 70 · see citing works

Snake Recombination Landscapes Are Concentrated in Functional Regions despite PRDM9

Schield, D. R., Pasquesi, G. I. M., Perry, B. W., Adams, R. H. J., Nikolakis, Z. L., Westfall, A. K., Orton, R. W., Meik, J. M., Mackessy, S. P., & Castoe, T. A. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa003 · Cited by 63 · see citing works

PRDM9 marks the spot

McVean, G., & Myers, S. R. (2010) · Nature Genetics · doi:10.1038/ng1010-821 · Cited by 25 · see citing works

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

Berg, I. L., Neumann, R., Sarbajna, S., Odenthal-Hesse, L., Butler, N. J., & Jeffreys, A. J. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1109531108 · Cited by 132 · see citing works

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

Baudat, F., Buard, J., Grey, C., Fledel-Alon, A., Ober, C., Przeworski, M., Coop, G., & de Massy, B. (2010) · Science · doi:10.1126/science.1183439 · Cited by 1,026 · see citing works

Drive Against Hotspot Motifs in Primates Implicates the <i>PRDM9</i> Gene in Meiotic Recombination

Myers, S., Bowden, R., Tumian, A., Bontrop, R. E., Freeman, C., MacFie, T. S., McVean, G., & Donnelly, P. (2010) · Science · doi:10.1126/science.1182363 · Cited by 683 · see citing works

Recombination regulator PRDM9 influences the instability of its own coding sequence in humans

Jeffreys, A. J., Cotton, V. E., Neumann, R., & Lam, K.-W. G. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1220813110 · Cited by 47 · see citing works