PalssonEtAl_Nature_2024

Supplementary data for Nature publication: Complete human recombination maps

Authors

Gunnar Palsson¹, Marteinn T. Hardarson^1,2, Hakon Jonsson¹, Valgerdur Steinthorsdottir¹, Olafur A. Stefansson¹, Hannes P. Eggertsson¹, Sigurjon A. Gudjonsson¹, Pall I. Olason¹, Arnaldur Gylfason¹, Gisli Masson¹, Unnur Thorsteinsdottir^1,3, Patrick Sulem¹, Agnar Helgason^1,4, Daniel F. Gudbjartsson^1,5, Bjarni V. Halldorsson^1,2,, Kari Stefansson^1,3,

Affiliations

1. deCODE genetics / Amgen Inc., Sturlugata 8, Reykjavik, Iceland
2. School of Technology, Reykjavik University, Reykjavík, Iceland
3. Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
4. Department of Anthropology, University of Iceland, Reykjavik, Iceland
5. School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland

• Corresponding authors.

Abstract

Human recombination maps are a valuable resource for association and linkage studies and crucial for many inferences of population history and natural selection. Existing maps are based solely on crossover (CO) recombination, omitting the more common form of recombination – non-crossovers (NCOs) – due to the difficulty in detecting them. Using whole-genome sequence (WGS) data in families, we estimate the number of NCOs transmitted from parent to offspring and derive complete, sex-specific recombination maps including both NCOs and COs. Mothers have fewer but longer NCOs than fathers, and oocytes accumulate NCOs in a non-regulated fashion with maternal age. Recombination, primarily NCO, is responsible for 1.8% (95% CI: 1.3-2.3) and 11.3% (95% CI: 9.0-13.6) of paternal and maternal de novo mutations (DNMs), respectively, and may drive the increase in DNMs with maternal age. NCOs are substantially more prominent than COs in centromeres, possibly to avoid large-scale genomic changes that may cause aneuploidy. Our results demonstrate that NCOs highlight, to a much greater extent than COs, the differences in the meiotic process between the sexes, where maternal NCOs may reflect the safeguarding of oocytes from infancy till ovulation.