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Section: Evolutionary Biology
Topic: Evolution, Genetics/Genomics, Population biology

The quiescent X, the replicative Y and the Autosomes

Achaz, Guillaume1, 2  ; Gangloff, Serge3 ; Arcangioli, Benoit3 
1 Institut Systématique Évolution Biodiversité (ISYEB), Muséum National d’Histoire Naturelle, SU, CNRS, EPHE, UA, Paris, France
2 SMILE, UMR 7241 CIRB, Collège de France, Paris, France
3 Dynamics of the Genome, Genomes and Genetics, Institut Pasteur, UMR 3525, CNRS-Institut Pasteur, Paris, France

10.24072/pcjournal.99 - Peer Community Journal, Volume 2 (2022), article no. e18.

Get full text PDF Peer reviewed and recommended by PCI

From the analysis of the mutation spectrum in the 2,504 sequenced human genomes from the 1000 genomes project (phase 3), we show that sexual chromosomes (X and Y) exhibit a different proportion of indel mutations than autosomes (A), ranking them X>A>Y. We further show that X chromosomes exhibit a higher ratio of deletion/insertion when compared to autosomes. This simple pattern shows that the recent report that non-dividing quiescent yeast cells accumulate relatively more indels (and particularly deletions) than replicating ones also applies to metazoan cells, including humans. Indeed, the X chromosomes display more indels than the autosomes, having spent more time in quiescent oocytes, whereas the Y chromosomes are solely present in the replicating spermatocytes. From the proportion of indels, we have inferred thatde novomutations arising in the maternal lineage are twice more likely to be indels than mutations from the paternal lineage. Our observation, consistent with a recent trio analysis of the spectrum of mutations inherited from the maternal lineage, is likely a major component in our understanding of the origin of anisogamy.

Published online:
DOI: 10.24072/pcjournal.99
Type: Research article
Achaz, Guillaume 1, 2; Gangloff, Serge 3; Arcangioli, Benoit 3

1 Institut Systématique Évolution Biodiversité (ISYEB), Muséum National d’Histoire Naturelle, SU, CNRS, EPHE, UA, Paris, France
2 SMILE, UMR 7241 CIRB, Collège de France, Paris, France
3 Dynamics of the Genome, Genomes and Genetics, Institut Pasteur, UMR 3525, CNRS-Institut Pasteur, Paris, France
License: CC-BY 4.0
Copyrights: The authors retain unrestricted copyrights and publishing rights 
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Achaz, Guillaume; Gangloff, Serge; Arcangioli, Benoit. The quiescent X, the replicative Y and the Autosomes. Peer Community Journal, Volume 2 (2022), article  no. e18. doi : 10.24072/pcjournal.99. https://peercommunityjournal.org/articles/10.24072/pcjournal.99/

Peer reviewed and recommended by PCI : 10.24072/pci.evolbiol.100066

Conflict of interest of the recommender and peer reviewers:
The recommender in charge of the evaluation of the article and the reviewers declared that they have no conflict of interest (as defined in the code of conduct of PCI) with the authors or with the content of the article.

[1] Auton, A.; Abecasis, G. R.; Altshuler, D. M.; Durbin, R. M.; Abecasis, G. R.; Bentley, D. R.; Chakravarti, A.; Clark, A. G.; Donnelly, P.; Eichler, E. E.; Flicek, P.; Gabriel, S. B.; Gibbs, R. A.; Green, E. D.; Hurles, M. E.; Knoppers, B. M.; Korbel, J. O.; Lander, E. S.; Lee, C.; Lehrach, H.; Mardis, E. R.; Marth, G. T.; McVean, G. A.; Nickerson, D. A.; Schmidt, J. P.; Sherry, S. T.; Wang, J.; Wilson, R. K.; Gibbs, R. A.; Boerwinkle, E.; Doddapaneni, H.; Han, Y.; Korchina, V.; Kovar, C.; Lee, S.; Muzny, D.; Reid, J. G.; Zhu, Y.; Wang, J.; Chang, Y.; Feng, Q.; Fang, X.; Guo, X.; Jian, M.; Jiang, H.; Jin, X.; Lan, T.; Li, G.; Li, J.; Li, Y.; Liu, S.; Liu, X.; Lu, Y.; Ma, X.; Tang, M.; Wang, B.; Wang, G.; Wu, H.; Wu, R.; Xu, X.; Yin, Y.; Zhang, D.; Zhang, W.; Zhao, J.; Zhao, M.; Zheng, X.; Lander, E. S.; Altshuler, D. M.; Gabriel, S. B.; Gupta, N.; Gharani, N.; Toji, L. H.; Gerry, N. P.; Resch, A. M.; Flicek, P.; Barker, J.; Clarke, L.; Gil, L.; Hunt, S. E.; Kelman, G.; Kulesha, E.; Leinonen, R.; McLaren, W. M.; Radhakrishnan, R.; Roa, A.; Smirnov, D.; Smith, R. E.; Streeter, I.; Thormann, A.; Toneva, I.; Vaughan, B.; Zheng-Bradley, X.; Bentley, D. R.; Grocock, R.; Humphray, S.; James, T.; Kingsbury, Z.; Lehrach, H.; Sudbrak, R.; Albrecht, M. W.; Amstislavskiy, V. S.; Borodina, T. A.; Lienhard, M.; Mertes, F.; Sultan, M.; Timmermann, B.; Yaspo, M.-L.; Mardis, E. R.; Wilson, R. K.; Fulton, L.; Fulton, R.; Sherry, S. T.; Ananiev, V.; Belaia, Z.; Beloslyudtsev, D.; Bouk, N.; Chen, C.; Church, D.; Cohen, R.; Cook, C.; Garner, J.; Hefferon, T.; Kimelman, M.; Liu, C.; Lopez, J.; Meric, P.; O’Sullivan, C.; Ostapchuk, Y.; Phan, L.; Ponomarov, S.; Schneider, V.; Shekhtman, E.; Sirotkin, K.; Slotta, D.; Zhang, H.; McVean, G. A.; Durbin, R. M.; Balasubramaniam, S.; Burton, J.; Danecek, P.; Keane, T. M.; Kolb-Kokocinski, A.; McCarthy, S.; Stalker, J.; Quail, M.; Schmidt, J. P.; Davies, C. J.; Gollub, J.; Webster, T.; Wong, B.; Zhan, Y.; Auton, A.; Campbell, C. L.; Kong, Y.; Marcketta, A.; Gibbs, R. A.; Yu, F.; Antunes, L.; Bainbridge, M.; Muzny, D.; Sabo, A.; Huang, Z.; Wang, J.; Coin, L. J. M.; Fang, L.; Guo, X.; Jin, X.; Li, G.; Li, Q.; Li, Y.; Li, Z.; Lin, H.; Liu, B.; Luo, R.; Shao, H.; Xie, Y.; Ye, C.; Yu, C.; Zhang, F.; Zheng, H.; Zhu, H.; Alkan, C.; Dal, E.; Kahveci, F.; Marth, G. T.; Garrison, E. P.; Kural, D.; Lee, W.-P.; Fung Leong, W.; Stromberg, M.; Ward, A. N.; Wu, J.; Zhang, M.; Daly, M. J.; DePristo, M. A.; Handsaker, R. E.; Altshuler, D. M.; Banks, E.; Bhatia, G.; del Angel, G.; Gabriel, S. B.; Genovese, G.; Gupta, N.; Li, H.; Kashin, S.; Lander, E. S.; McCarroll, S. A.; Nemesh, J. C.; Poplin, R. E.; Yoon, S. C.; Lihm, J.; Makarov, V.; Clark, A. G.; Gottipati, S.; Keinan, A.; Rodriguez-Flores, J. L.; Korbel, J. O.; Rausch, T.; Fritz, M. H.; Stütz, A. M.; Flicek, P.; Beal, K.; Clarke, L.; Datta, A.; Herrero, J.; McLaren, W. M.; Ritchie, G. R. S.; Smith, R. E.; Zerbino, D.; Zheng-Bradley, X.; Sabeti, P. C.; Shlyakhter, I.; Schaffner, S. F.; Vitti, J.; Cooper, D. N.; Ball, E. V.; Stenson, P. D.; Bentley, D. R.; Barnes, B.; Bauer, M.; Keira Cheetham, R.; Cox, A.; Eberle, M.; Humphray, S.; Kahn, S.; Murray, L.; Peden, J.; Shaw, R.; Kenny, E. E.; Batzer, M. A.; Konkel, M. K.; Walker, J. A.; MacArthur, D. G.; Lek, M.; Sudbrak, R.; Amstislavskiy, V. S.; Herwig, R.; Mardis, E. R.; Ding, L.; Koboldt, D. C.; Larson, D.; Ye, K.; Gravel, S.; Swaroop, A.; Chew, E.; Lappalainen, T.; Erlich, Y.; Gymrek, M.; Frederick Willems, T.; Simpson, J. T.; Shriver, M. D.; Rosenfeld, J. A.; Bustamante, C. D.; Montgomery, S. B.; De La Vega, F. M.; Byrnes, J. K.; Carroll, A. W.; DeGorter, M. K.; Lacroute, P.; Maples, B. K.; Martin, A. R.; Moreno-Estrada, A.; Shringarpure, S. S.; Zakharia, F.; Halperin, E.; Baran, Y.; Lee, C.; Cerveira, E.; Hwang, J.; Malhotra, A.; Plewczynski, D.; Radew, K.; Romanovitch, M.; Zhang, C.; Hyland, F. C. L.; Craig, D. W.; Christoforides, A.; Homer, N.; Izatt, T.; Kurdoglu, A. A.; Sinari, S. A.; Squire, K.; Sherry, S. T.; Xiao, C.; Sebat, J.; Antaki, D.; Gujral, M.; Noor, A.; Ye, K.; Burchard, E. G.; Hernandez, R. D.; Gignoux, C. R.; Haussler, D.; Katzman, S. J.; James Kent, W.; Howie, B.; Ruiz-Linares, A.; Dermitzakis, E. T.; Devine, S. E.; Abecasis, G. R.; Min Kang, H.; Kidd, J. M.; Blackwell, T.; Caron, S.; Chen, W.; Emery, S.; Fritsche, L.; Fuchsberger, C.; Jun, G.; Li, B.; Lyons, R.; Scheller, C.; Sidore, C.; Song, S.; Sliwerska, E.; Taliun, D.; Tan, A.; Welch, R.; Kate Wing, M.; Zhan, X.; Awadalla, P.; Hodgkinson, A.; Li, Y.; Shi, X.; Quitadamo, A.; Lunter, G.; McVean, G. A.; Marchini, J. L.; Myers, S.; Churchhouse, C.; Delaneau, O.; Gupta-Hinch, A.; Kretzschmar, W.; Iqbal, Z.; Mathieson, I.; Menelaou, A.; Rimmer, A.; Xifara, D. K.; Oleksyk, T. K.; Fu, Y.; Liu, X.; Xiong, M.; Jorde, L.; Witherspoon, D.; Xing, J.; Eichler, E. E.; Browning, B. L.; Browning, S. R.; Hormozdiari, F.; Sudmant, P. H.; Khurana, E.; Durbin, R. M.; Hurles, M. E.; Tyler-Smith, C.; Albers, C. A.; Ayub, Q.; Balasubramaniam, S.; Chen, Y.; Colonna, V.; Danecek, P.; Jostins, L.; Keane, T. M.; McCarthy, S.; Walter, K.; Xue, Y.; Gerstein, M. B.; Abyzov, A.; Balasubramanian, S.; Chen, J.; Clarke, D.; Fu, Y.; Harmanci, A. O.; Jin, M.; Lee, D.; Liu, J.; Jasmine Mu, X.; Zhang, J.; Zhang, Y.; Li, Y.; Luo, R.; Zhu, H.; Alkan, C.; Dal, E.; Kahveci, F.; Marth, G. T.; Garrison, E. P.; Kural, D.; Lee, W.-P.; Ward, A. N.; Wu, J.; Zhang, M.; McCarroll, S. A.; Handsaker, R. E.; Altshuler, D. M.; Banks, E.; del Angel, G.; Genovese, G.; Hartl, C.; Li, H.; Kashin, S.; Nemesh, J. C.; Shakir, K.; Yoon, S. C.; Lihm, J.; Makarov, V.; Degenhardt, J.; Korbel, J. O.; Fritz, M. H.; Meiers, S.; Raeder, B.; Rausch, T.; Stütz, A. M.; Flicek, P.; Paolo Casale, F.; Clarke, L.; Smith, R. E.; Stegle, O.; Zheng-Bradley, X.; Bentley, D. R.; Barnes, B.; Keira Cheetham, R.; Eberle, M.; Humphray, S.; Kahn, S.; Murray, L.; Shaw, R.; Lameijer, E.-W.; Batzer, M. A.; Konkel, M. K.; Walker, J. A.; Ding, L.; Hall, I.; Ye, K.; Lacroute, P.; Lee, C.; Cerveira, E.; Malhotra, A.; Hwang, J.; Plewczynski, D.; Radew, K.; Romanovitch, M.; Zhang, C.; Craig, D. W.; Homer, N.; Church, D.; Xiao, C.; Sebat, J.; Antaki, D.; Bafna, V.; Michaelson, J.; Ye, K.; Devine, S. E.; Gardner, E. J.; Abecasis, G. R.; Kidd, J. M.; Mills, R. E.; Dayama, G.; Emery, S.; Jun, G.; Shi, X.; Quitadamo, A.; Lunter, G.; McVean, G. A.; Chen, K.; Fan, X.; Chong, Z.; Chen, T.; Witherspoon, D.; Xing, J.; Eichler, E. E.; Chaisson, M. J.; Hormozdiari, F.; Huddleston, J.; Malig, M.; Nelson, B. J.; Sudmant, P. H.; Parrish, N. F.; Khurana, E.; Hurles, M. E.; Blackburne, B.; Lindsay, S. J.; Ning, Z.; Walter, K.; Zhang, Y.; Gerstein, M. B.; Abyzov, A.; Chen, J.; Clarke, D.; Lam, H.; Jasmine Mu, X.; Sisu, C.; Zhang, J.; Zhang, Y.; Gibbs, R. A.; Yu, F.; Bainbridge, M.; Challis, D.; Evani, U. S.; Kovar, C.; Lu, J.; Muzny, D.; Nagaswamy, U.; Reid, J. G.; Sabo, A.; Yu, J.; Guo, X.; Li, W.; Li, Y.; Wu, R.; Marth, G. T.; Garrison, E. P.; Fung Leong, W.; Ward, A. N.; del Angel, G.; DePristo, M. A.; Gabriel, S. B.; Gupta, N.; Hartl, C.; Poplin, R. E.; Clark, A. G.; Rodriguez-Flores, J. L.; Flicek, P.; Clarke, L.; Smith, R. E.; Zheng-Bradley, X.; MacArthur, D. G.; Mardis, E. R.; Fulton, R.; Koboldt, D. C.; Gravel, S.; Bustamante, C. D.; Craig, D. W.; Christoforides, A.; Homer, N.; Izatt, T.; Sherry, S. T.; Xiao, C.; Dermitzakis, E. T.; Abecasis, G. R.; Min Kang, H.; McVean, G. A.; Gerstein, M. B.; Balasubramanian, S.; Habegger, L.; Yu, H.; Flicek, P.; Clarke, L.; Cunningham, F.; Dunham, I.; Zerbino, D.; Zheng-Bradley, X.; Lage, K.; Berg Jespersen, J.; Horn, H.; Montgomery, S. B.; DeGorter, M. K.; Khurana, E.; Tyler-Smith, C.; Chen, Y.; Colonna, V.; Xue, Y.; Gerstein, M. B.; Balasubramanian, S.; Fu, Y.; Kim, D.; Auton, A.; Marcketta, A.; Desalle, R.; Narechania, A.; Wilson Sayres, M. A.; Garrison, E. P.; Handsaker, R. E.; Kashin, S.; McCarroll, S. A.; Rodriguez-Flores, J. L.; Flicek, P.; Clarke, L.; Zheng-Bradley, X.; Erlich, Y.; Gymrek, M.; Frederick Willems, T.; Bustamante, C. D.; Mendez, F. L.; David Poznik, G.; Underhill, P. A.; Lee, C.; Cerveira, E.; Malhotra, A.; Romanovitch, M.; Zhang, C.; Abecasis, G. R.; Coin, L.; Shao, H.; Mittelman, D.; Tyler-Smith, C.; Ayub, Q.; Banerjee, R.; Cerezo, M.; Chen, Y.; Fitzgerald, T. W.; Louzada, S.; Massaia, A.; McCarthy, S.; Ritchie, G. R.; Xue, Y.; Yang, F.; Gibbs, R. A.; Kovar, C.; Kalra, D.; Hale, W.; Muzny, D.; Reid, J. G.; Wang, J.; Dan, X.; Guo, X.; Li, G.; Li, Y.; Ye, C.; Zheng, X.; Altshuler, D. M.; Flicek, P.; Clarke, L.; Zheng-Bradley, X.; Bentley, D. R.; Cox, A.; Humphray, S.; Kahn, S.; Sudbrak, R.; Albrecht, M. W.; Lienhard, M.; Larson, D.; Craig, D. W.; Izatt, T.; Kurdoglu, A. A.; Sherry, S. T.; Xiao, C.; Haussler, D.; Abecasis, G. R.; McVean, G. A.; Durbin, R. M.; Balasubramaniam, S.; Keane, T. M.; McCarthy, S.; Stalker, J.; Chakravarti, A.; Knoppers, B. M.; Abecasis, G. R.; Barnes, K. C.; Beiswanger, C.; Burchard, E. G.; Bustamante, C. D.; Cai, H.; Cao, H.; Durbin, R. M.; Gerry, N. P.; Gharani, N.; Gibbs, R. A.; Gignoux, C. R.; Gravel, S.; Henn, B.; Jones, D.; Jorde, L.; Kaye, J. S.; Keinan, A.; Kent, A.; Kerasidou, A.; Li, Y.; Mathias, R.; McVean, G. A.; Moreno-Estrada, A.; Ossorio, P. N.; Parker, M.; Resch, A. M.; Rotimi, C. N.; Royal, C. D.; Sandoval, K.; Su, Y.; Sudbrak, R.; Tian, Z.; Tishkoff, S.; Toji, L. H.; Tyler-Smith, C.; Via, M.; Wang, Y.; Yang, H.; Yang, L.; Zhu, J.; Bodmer, W.; Bedoya, G.; Ruiz-Linares, A.; Cai, Z.; Gao, Y.; Chu, J.; Peltonen, L.; Garcia-Montero, A.; Orfao, A.; Dutil, J.; Martinez-Cruzado, J. C.; Oleksyk, T. K.; Barnes, K. C.; Mathias, R. A.; Hennis, A.; Watson, H.; McKenzie, C.; Qadri, F.; LaRocque, R.; Sabeti, P. C.; Zhu, J.; Deng, X.; Sabeti, P. C.; Asogun, D.; Folarin, O.; Happi, C.; Omoniwa, O.; Stremlau, M.; Tariyal, R.; Jallow, M.; Sisay Joof, F.; Corrah, T.; Rockett, K.; Kwiatkowski, D.; Kooner, J.; Tịnh Hiê`n, T.; Dunstan, S. J.; Thuy Hang, N.; Fonnie, R.; Garry, R.; Kanneh, L.; Moses, L.; Sabeti, P. C.; Schieffelin, J.; Grant, D. S.; Gallo, C.; Poletti, G.; Saleheen, D.; Rasheed, A.; Brooks, L. D.; Felsenfeld, A. L.; McEwen, J. E.; Vaydylevich, Y.; Green, E. D.; Duncanson, A.; Dunn, M.; Schloss, J. A.; Wang, J.; Yang, H.; Auton, A.; Brooks, L. D.; Durbin, R. M.; Garrison, E. P.; Min Kang, H.; Korbel, J. O.; Marchini, J. L.; McCarthy, S.; McVean, G. A.; Abecasis, G. R. A global reference for human genetic variation, Nature, Volume 526 (2015) no. 7571, pp. 68-74 | DOI

[2] Charlesworth, B.; Charlesworth, D. The degeneration of Y chromosomes, Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, Volume 355 (2000) no. 1403, pp. 1563-1572 | DOI

[3] Crow, J. F. The origins, patterns and implications of human spontaneous mutation, Nature Reviews Genetics, Volume 1 (2000) no. 1, pp. 40-47 | DOI

[4] Ellegren, H. Characteristics, causes and evolutionary consequences of male-biased mutation, Proceedings of the Royal Society B: Biological Sciences, Volume 274 (2006) no. 1606, pp. 1-10 | DOI

[5] Eyre-Walker, A.; Keightley, P. D. The distribution of fitness effects of new mutations, Nature Reviews Genetics, Volume 8 (2007) no. 8, pp. 610-618 | DOI

[6] Gangloff, S.; Achaz, G.; Francesconi, S.; Villain, A.; Miled, S.; Denis, C.; Arcangioli, B. Quiescence unveils a novel mutational force in fission yeast, eLife, Volume 6 (2017) | DOI

[7] Gao, Z.; Wyman, M. J.; Sella, G.; Przeworski, M. Interpreting the Dependence of Mutation Rates on Age and Time, PLOS Biology, Volume 14 (2016) no. 1 | DOI

[8] Gao, Z.; Moorjani, P.; Sasani, T.; Pedersen, B.; Quinlan, A.; Jorde, L.; Amster, G.; Przeworski, M. Overlooked roles of DNA damage and maternal age in generating human germline mutations, bioRxiv (2018) | DOI

[9] Goldmann, J. M.; Seplyarskiy, V. B.; Wong, W. S. W.; Vilboux, T.; Neerincx, P. B.; Bodian, D. L.; Solomon, B. D.; Veltman, J. A.; Deeken, J. F.; Gilissen, C.; Niederhuber, J. E. Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence, Nature Genetics, Volume 50 (2018) no. 4, pp. 487-492 | DOI

[10] Goldmann, J. M.; Wong, W. S. W.; Pinelli, M.; Farrah, T.; Bodian, D.; Stittrich, A. B.; Glusman, G.; Vissers, L. E. L. M.; Hoischen, A.; Roach, J. C.; Vockley, J. G.; Veltman, J. A.; Solomon, B. D.; Gilissen, C.; Niederhuber, J. E. Parent-of-origin-specific signatures of de novo mutations, Nature Genetics, Volume 48 (2016) no. 8, pp. 935-939 | DOI

[11] Haldane, J. B. S. The mutation rate of the gene for Haemophilia, and its segregation ratios in males and females, Annals of Eugenics, Volume 13 (1946) no. 1, pp. 262-271 | DOI

[12] Halldorsson, B. V.; Hardarson, M. T.; Kehr, B.; Styrkarsdottir, U.; Gylfason, A.; Thorleifsson, G.; Zink, F.; Jonasdottir, A.; Jonasdottir, A.; Sulem, P.; Masson, G.; Thorsteinsdottir, U.; Helgason, A.; Kong, A.; Gudbjartsson, D. F.; Stefansson, K. The rate of meiotic gene conversion varies by sex and age, Nature Genetics, Volume 48 (2016) no. 11, pp. 1377-1384 | DOI

[13] Hughes, J. F.; Skaletsky, H.; Pyntikova, T.; Graves, T. A.; van Daalen, S. K. M.; Minx, P. J.; Fulton, R. S.; McGrath, S. D.; Locke, D. P.; Friedman, C.; Trask, B. J.; Mardis, E. R.; Warren, W. C.; Repping, S.; Rozen, S.; Wilson, R. K.; Page, D. C. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content, Nature, Volume 463 (2010) no. 7280, pp. 536-539 | DOI

[14] Jónsson, H.; Sulem, P.; Kehr, B.; Kristmundsdottir, S.; Zink, F.; Hjartarson, E.; Hardarson, M. T.; Hjorleifsson, K. E.; Eggertsson, H. P.; Gudjonsson, S. A.; Ward, L. D.; Arnadottir, G. A.; Helgason, E. A.; Helgason, H.; Gylfason, A.; Jonasdottir, A.; Jonasdottir, A.; Rafnar, T.; Frigge, M.; Stacey, S. N.; Th. Magnusson, O.; Thorsteinsdottir, U.; Masson, G.; Kong, A.; Halldorsson, B. V.; Helgason, A.; Gudbjartsson, D. F.; Stefansson, K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland, Nature, Volume 549 (2017) no. 7673, pp. 519-522 | DOI

[15] Halldorsson, B. V.; Hardarson, M. T.; Kehr, B.; Styrkarsdottir, U.; Gylfason, A.; Thorleifsson, G.; Zink, F.; Jonasdottir, A.; Jonasdottir, A.; Sulem, P.; Masson, G.; Thorsteinsdottir, U.; Helgason, A.; Kong, A.; Gudbjartsson, D. F.; Stefansson, K. The rate of meiotic gene conversion varies by sex and age, Nature Genetics, Volume 48 (2016) no. 11, pp. 1377-1384 | DOI

[16] Jónsson, H.; Sulem, P.; Kehr, B.; Kristmundsdottir, S.; Zink, F.; Hjartarson, E.; Hardarson, M. T.; Hjorleifsson, K. E.; Eggertsson, H. P.; Gudjonsson, S. A.; Ward, L. D.; Arnadottir, G. A.; Helgason, E. A.; Helgason, H.; Gylfason, A.; Jonasdottir, A.; Jonasdottir, A.; Rafnar, T.; Frigge, M.; Stacey, S. N.; Th. Magnusson, O.; Thorsteinsdottir, U.; Masson, G.; Kong, A.; Halldorsson, B. V.; Helgason, A.; Gudbjartsson, D. F.; Stefansson, K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland, Nature, Volume 549 (2017) no. 7673, pp. 519-522 | DOI

[17] Kong, A.; Barnard, J.; Gudbjartsson, D. F.; Thorleifsson, G.; Jonsdottir, G.; Sigurdardottir, S.; Richardsson, B.; Jonsdottir, J.; Thorgeirsson, T.; Frigge, M. L.; Lamb, N. E.; Sherman, S.; Gulcher, J. R.; Stefansson, K. Recombination rate and reproductive success in humans, Nature Genetics, Volume 36 (2004) no. 11, pp. 1203-1206 | DOI

[18] Kong, A.; Frigge, M. L.; Masson, G.; Besenbacher, S.; Sulem, P.; Magnusson, G.; Gudjonsson, S. A.; Sigurdsson, A.; Jonasdottir, A.; Jonasdottir, A.; Wong, W. S. W.; Sigurdsson, G.; Walters, G. B.; Steinberg, S.; Helgason, H.; Thorleifsson, G.; Gudbjartsson, D. F.; Helgason, A.; Magnusson, O. T.; Thorsteinsdottir, U.; Stefansson, K. Rate of de novo mutations and the importance of father’s age to disease risk, Nature, Volume 488 (2012) no. 7412, pp. 471-475 | DOI

[19] Kong, A.; Thorleifsson, G.; Gudbjartsson, D. F.; Masson, G.; Sigurdsson, A.; Jonasdottir, A.; Walters, G. B.; Jonasdottir, A.; Gylfason, A.; Kristinsson, K. T.; Gudjonsson, S. A.; Frigge, M. L.; Helgason, A.; Thorsteinsdottir, U.; Stefansson, K. Fine-scale recombination rate differences between sexes, populations and individuals, Nature, Volume 467 (2010) no. 7319, pp. 1099-1103 | DOI

[20] Lunter, G.; Ponting, C. P.; Hein, J. Genome-Wide Identification of Human Functional DNA Using a Neutral Indel Model, PLoS Computational Biology, Volume 2 (2006) no. 1 | DOI

[21] Makova, K. D.; Yang, S.; Chiaromonte, F. Insertions and Deletions Are Male Biased Too: A Whole-Genome Analysis in Rodents, Genome Research, Volume 14 (2004) no. 4, pp. 567-573 | DOI

[22] Makova, K. D.; Hardison, R. C. The effects of chromatin organization on variation in mutation rates in the genome, Nature Reviews Genetics, Volume 16 (2015) no. 4, pp. 213-223 | DOI

[23] Makova, K. D.; Li, W.-H. Strong male-driven evolution of DNA sequences in humans and apes, Nature, Volume 416 (2002) no. 6881, pp. 624-626 | DOI

[24] Miyata, T.; Hayashida, H.; Kuma, K.; Mitsuyasu, K.; Yasunaga, T. Male-driven Molecular Evolution: A Model and Nucleotide Sequence Analysis, Cold Spring Harbor Symposia on Quantitative Biology, Volume 52 (1987) no. 0, pp. 863-867 | DOI

[25] Ohta, T. Slightly Deleterious Mutant Substitutions in Evolution, Nature, Volume 246 (1973) no. 5428, pp. 96-98 | DOI

[26] Penrose, L. Parental age and mutation, The Lancet, Volume 266 (1955) no. 6885, pp. 312-313 | DOI

[27] Rocha, E. P.; Smith, J. M.; Hurst, L. D.; Holden, M. T.; Cooper, J. E.; Smith, N. H.; Feil, E. J. Comparisons of dN/dS are time dependent for closely related bacterial genomes, Journal of Theoretical Biology, Volume 239 (2006) no. 2, pp. 226-235 | DOI

[28] Thomas, G. W.; Wang, R. J.; Puri, A.; Harris, R. A.; Raveendran, M.; Hughes, D. S.; Murali, S. C.; Williams, L. E.; Doddapaneni, H.; Muzny, D. M.; Gibbs, R. A.; Abee, C. R.; Galinski, M. R.; Worley, K. C.; Rogers, J.; Radivojac, P.; Hahn, M. W. Reproductive Longevity Predicts Mutation Rates in Primates, Current Biology, Volume 28 (2018) no. 19 | DOI

[29] Venn, O.; Turner, I.; Mathieson, I.; de Groot, N.; Bontrop, R.; McVean, G. Strong male bias drives germline mutation in chimpanzees, Science, Volume 344 (2014) no. 6189, pp. 1272-1275 | DOI

[30] Xia, B.; Yan, Y.; Baron, M.; Wagner, F.; Barkley, D.; Chiodin, M.; Kim, S. Y.; Keefe, D. L.; Alukal, J. P.; Boeke, J. D.; Yanai, I. Widespread transcriptional scanning in testes modulates gene evolution rates., bioRxiv (2018) | DOI

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