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

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2. Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes
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3. De novo mutations, genetic mosaicism and human disease
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4. Prdm9, a Major Determinant of Meiotic Recombination Hotspots, Is Not Functional in Dogs and Their Wild Relatives, Wolves and Coyotes
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6. Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line
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7. The histone modification reader ZCWPW1 is required for meiosis prophase I in male but not in female mice
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8. Prdm9 Polymorphism Unveils Mouse Evolutionary Tracks
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9. Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots
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10. Transmission Distortion Affecting Human Noncrossover but Not Crossover Recombination: A Hidden Source of Meiotic Drive
    Linda Odenthal-Hesse, Ingrid L. Berg, Amelia Veselis, Alec J. Jeffreys, Celia A. May · 2014 · PLoS Genetics
11. Structural basis for human PRDM9 action at recombination hot spots
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12. Sycp2 is essential for synaptonemal complex assembly, early meiotic recombination and homologous pairing in zebrafish spermatocytes
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13. Scale matters
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14. Ongoing GC-Biased Evolution Is Widespread in the Human Genome and Enriched Near Recombination Hot Spots
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15. The Red Queen theory of recombination hotspots
    Francisco Úbeda, Jon F. Wilkins · 2010 · Journal of Evolutionary Biology
16. Sex Differences in Recombination in Sticklebacks
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17. Two-Locus Likelihoods Under Variable Population Size and Fine-Scale Recombination Rate Estimation
    Jack Kamm, Jeffrey P. Spence, Jeffrey Chan, Yun S. Song · 2016 · Genetics
18. Variation of the meiotic recombination landscape and properties over a broad evolutionary distance in yeasts
    Christian Brion, Sylvain Legrand, Jackson Peter, Claudia Caradec, David Pflieger, Jing Hou, Anne Friedrich, Bertrand Llorente, Joseph Schacherer · 2017 · PLoS Genetics
19. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication
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20. Variation in Genome-Wide Levels of Meiotic Recombination Is Established at the Onset of Prophase in Mammalian Males
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21. Rare allelic forms of PRDM9 associated with childhood leukemogenesis
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22. The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age
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23. Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis
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24. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
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25. Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
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26. Estimating Recombination Rates from Genetic Variation in Humans
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27. Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
    Laia Vergés, Òscar Molina, Esther Geán, Francesca Vidal, Joan Blanco · 2014 · Molecular Cytogenetics
28. Recombination regulator PRDM9 influences the instability of its own coding sequence in humans
    Alec J. Jeffreys, Victoria E. Cotton, Rita Neumann, Kwan-Wood Gabriel Lam · 2012 · Proceedings of the National Academy of Sciences
29. Chromothripsis: how does such a catastrophic event impact human reproduction?
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30. Strong Artificial Selection in Domestic Mammals Did Not Result in an Increased Recombination Rate
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31. Genetic recombination variation in wild Robertsonian mice: on the role of chromosomal fusions andPrdm9allelic background
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32. Cataloging Human PRDM9 Allelic Variation Using Long-Read Sequencing Reveals PRDM9 Population Specificity and Two Distinct Groupings of Related Alleles
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33. Effect of sex, age and genetics on crossover interference in cattle
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34. The impact of recombination on human mutation load and disease
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35. High Diversity at PRDM9 in Chimpanzees and Bonobos
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36. Population Demographic History Can Cause the Appearance of Recombination Hotspots
    H. Richard Johnston, David J. Cutler · 2012 · The American Journal of Human Genetics
37. Extreme Differences in Recombination Rate between the Genomes of a Solitary and a Social Bee
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38. The Drosophila Zinc Finger Protein Trade Embargo Is Required for Double Strand Break Formation in Meiosis
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39. The formation and propagation of human Robertsonian chromosomes
    Leonardo Gomes de Lima, Andrea Guarracino, Sergey Koren, Tamara Potapova, Sean McKinney, Arang Rhie, Steven J. Solar, Chris W. Seidel, Brandon L. Fagen, Brian P. Walenz et al. · 2025 · Nature
40. Clan genomics: From OMIM phenotypic traits to genes and biology
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41. Interplay between modifications of chromatin and meiotic recombination hotspots
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42. Hybrid male sterility genes in the mouse subspecific crosses
    Jiřı́ Forejt, Jaroslav Piálek, Zdeněk Trachtulec · 2012 · Cambridge University Press eBooks
43. Population-Specific Recombination Maps from Segments of Identity by Descent
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44. Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene
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45. Meiotic Genes and DNA Double Strand Break Repair in Cancer
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46. Meiotic Recombination Analyses of Individual Chromosomes in Male Domestic Pigs (Sus scrofa domestica)
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47. CXXC finger protein 1-mediated histone H3 lysine-4 trimethylation is essential for proper meiotic crossover formation in mice
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48. Sex-chromosome differentiation parallels postglacial range expansion in European tree frogs (Hyla arborea)
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49. A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events
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50. The consequences of sequence erosion in the evolution of recombination hotspots
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51. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions
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52. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis
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53. Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population
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54. Identification of recurrent type-2NF1microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
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55. Germline Methylation Patterns Determine the Distribution of Recombination Events in the Dog Genome
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56. CXXC1 is not essential for normal DNA double-strand break formation and meiotic recombination in mouse
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57. Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome
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58. Genomic correlates of recombination rate and its variability across eight recombination maps in the western honey bee (Apis mellifera L.)
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59. DNA Sequence-Mediated, Evolutionarily Rapid Redistribution of Meiotic Recombination Hotspots
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60. PRDM9 marks the spot
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61. Detecting Recent Positive Selection with High Accuracy and Reliability by Conditional Coalescent Tree
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62. On the Structural Plasticity of the Human Genome: Chromosomal Inversions Revisited
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63. Multi‐Invasion‐Induced Rearrangements as a Pathway for Physiological and Pathological Recombination
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64. Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
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65. Down the Penrose stairs, or how selection for fewer recombination hotspots maintains their existence
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66. New paradigms for conserved, multifactorial, cis-acting regulation of meiotic recombination
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67. Evolutionary dynamics of meiotic recombination hotspots regulator PRDM9 in bovids
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68. LDJump : Estimating variable recombination rates from population genetic data
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69. Great Ape Genomics
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70. The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome
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71. Initiation of Meiotic Recombination in Mammals
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72. Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21
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73. Construction of PRDM9 allele-specific recombination maps in cattle using large-scale pedigree analysis and genome-wide single sperm genomics
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74. An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome
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75. Novel Insights into the Landscape of Crossover and Noncrossover Events in Rhesus Macaques ( Macaca mulatta )
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76. Kruppel-associated box (KRAB) proteins in the adaptive immune system
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77. Specific Modifications of Histone Tails, but Not DNA Methylation, Mirror the Temporal Variation of Mammalian Recombination Hotspots
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78. Joint Prediction of the Effective Population Size and the Rate of Fixation of Deleterious Mutations
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79. PRDM9 Diversity at Fine Geographical Scale Reveals Contrasting Evolutionary Patterns and Functional Constraints in Natural Populations of House Mice
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80. EWSR1 affects PRDM9-dependent histone 3 methylation and provides a link between recombination hotspots and the chromosome axis protein REC8
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81. The long zinc finger domain of PRDM9 forms a highly stable and long-lived complex with its DNA recognition sequence
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82. An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction
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83. Structural basis of human PR/SET domain 9 (PRDM9) allele C–specific recognition of its cognate DNA sequence
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84. Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences
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85. Sexual dimorphism in the meiotic requirement for PRDM9: A mammalian evolutionary safeguard
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86. Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males
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87. A New Metazoan Recombination Rate Record and Consistently High Recombination Rates in the Honey Bee Genus Apis Accompanied by Frequent Inversions but not Translocations
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88. Identifying recombination hotspots using population genetic data
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89. The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte
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90. Evidence of positive selection and concerted evolution in the rapidly evolving PRDM 9 zinc finger domain in goats and sheep
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91. Evolution of recombination rates and the genomic landscape of speciation
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92. Deep learning identifies and quantifies recombination hotspot determinants
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93. Rapid Evolution of the Fine-scale Recombination Landscape in Wild House Mouse ( Mus musculus ) Populations
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94. Multiple Genomic Landscapes of Recombination and Genomic Divergence in Wild Populations of House Mice—The Role of Chromosomal Fusions and Prdm9
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98. PRDM9 drives the location and rapid evolution of recombination hotspots in salmonid fish
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99. Genomic variation in the porcine immunoglobulin lambda variable region
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100. The 8p23 Inversion Polymorphism Determines Local Recombination Heterogeneity across Human Populations
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