Measuring the Efficiency of Purging by non-random Mating in Human Populations

被引：1

作者：

Laurent, Romain ^{[1
]}

Gineau, Laure ^{[2
]}

Utge, Jose ^{[1
]}

Lafosse, Sophie ^{[1
]}

Phoeung, Chan Leakhena ^{[3
]}

Hegay, Tatyana ^{[4
]}

Olaso, Robert ^{[5
]}

Boland, Anne ^{[5
]}

Deleuze, Jean-Francois ^{[5
]}

Toupance, Bruno ^{[1
,6
]}

Heyer, Evelyne ^{[1
]}

Leutenegger, Anne-Louise ^{[7
]}

Chaix, Raphaelle ^{[1
]}

机构：

[1] Univ Paris Cite, Museum Natl Hist Nat, Ecoanthropol EA, CNRS, F-75016 Paris, France

[2] Univ Paris Citte, IRD, MERIT, F-75006 Paris, France

[3] Univ Hlth Sci, Rodolphe Merieux Lab, Phnom Penh, Cambodia

[4] Acad Sci, Inst Immunol & Human Genom, Lab Genome Cell Technol, Tashkent, Uzbekistan

[5] Univ Paris Saclay, CEA, Ctr Natl Rech Genom Humaine, F-91057 Evry, France

[6] Univ Paris Cite, Ecoanthropol, F-75006 Paris, France

[7] Univ Paris Cite, Inserm, NeuroDiderot, Paris, France

来源：

MOLECULAR BIOLOGY AND EVOLUTION | 2024年 / 41卷 / 06期

关键词：

purifying selection; kinship; mate choice; inbreeding; genomics; deleterious variants; mutational load; DELETERIOUS MUTATION LOAD; INBREEDING DEPRESSION; GENETIC-VARIATION; HOMOZYGOSITY; PATTERNS; HISTORY; AUTOZYGOSITY; EXTINCTION; DIVERSITY; DOMINANCE;

D O I：

10.1093/molbev/msae094

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Human populations harbor a high concentration of deleterious genetic variants. Here, we tested the hypothesis that non-random mating practices affect the distribution of these variants, through exposure in the homozygous state, leading to their purging from the population gene pool. To do so, we produced whole-genome sequencing data for two pairs of Asian populations exhibiting different alliance rules and rates of inbreeding, but with similar effective population sizes. The results show that populations with higher rates of inbred matings do not purge deleterious variants more efficiently. Purging therefore has a low efficiency in human populations, and different mating practices lead to a similar mutational load. Graphical abstract

引用

页数：11

共 67 条

[1] Inferences About the Distribution of Dominance Drawn From Yeast Gene Knockout Data [J].

Agrawal, Aneil F. ;

Whitlock, Michael C. .

GENETICS, 2011, 187 (02) :553-U274

[2] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[3] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[4] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[5] Inbreeding depression is difficult to purge in self-incompatible populations of Leavenworthia alabamica [J].

Baldwin, Sarah J. ;

Schoen, Daniel J. .

NEW PHYTOLOGIST, 2019, 224 (03) :1330-1338

[6] Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios [J].

Besenbacher, Soren ;

Liu, Siyang ;

Izarzugaza, Jose M. G. ;

Grove, Jakob ;

Belling, Kirstine ;

Bork-Jensen, Jette ;

Huang, Shujia ;

Als, Thomas D. ;

Li, Shengting ;

Yadav, Rachita ;

Rubio-Garcia, Arcadio ;

Lescai, Francesco ;

Demontis, Ditte ;

Rao, Junhua ;

Ye, Weijian ;

Mailund, Thomas ;

Friborg, Rune M. ;

Pedersen, Christian N. S. ;

Xu, Ruiqi ;

Sun, Jihua ;

Liu, Hao ;

Wang, Ou ;

Cheng, Xiaofang ;

Flores, David ;

Rydza, Emil ;

Rapacki, Kristoffer ;

Sorensen, John Damm ;

Chmura, Piotr ;

Westergaard, David ;

Dworzynski, Piotr ;

Sorensen, Thorkild I. A. ;

Lund, Ole ;

Hansen, Torben ;

Xu, Xun ;

Li, Ning ;

Bolund, Lars ;

Pedersen, Oluf ;

Eiberg, Hans ;

Krogh, Anders ;

Borglum, Anders D. ;

Brunak, Soren ;

Kristiansen, Karsten ;

Schierup, Mikkel H. ;

Wang, Jun ;

Gupta, Ramneek ;

Villesen, Palle ;

Rasmussen, Simon .

NATURE COMMUNICATIONS, 2015, 6

[7] Consanguineous Marriage and Human Evolution [J].

Bittles, A. H. ;

Black, M. L. .

ANNUAL REVIEW OF ANTHROPOLOGY, VOLUME 39, 2010, 39 :193-207

[8] THE COSTS OF HUMAN INBREEDING AND THEIR IMPLICATIONS FOR VARIATIONS AT THE DNA LEVEL [J].

BITTLES, AH ;

NEEL, JV .

NATURE GENETICS, 1994, 8 (02) :117-121

[9] Do plant populations purge their genetic load? Effects of population size and mating history on inbreeding depression [J].

Byers, DL ;

Waller, DM .

ANNUAL REVIEW OF ECOLOGY AND SYSTEMATICS, 1999, 30 :479-513

[10] Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans [J].

Casals, Ferran ;

Hodgkinson, Alan ;

Hussin, Julie ;

Idaghdour, Youssef ;

Bruat, Vanessa ;

de Maillard, Thibault ;

Grenier, Jean-Cristophe ;

Gbeha, Elias ;

Hamdan, Fadi F. ;

Girard, Simon ;

Spinella, Jean-francois ;

Lariviere, Mathieu ;

Saillour, Virginie ;

Healy, Jasmine ;

Fernandez, Isabel ;

Sinnett, Daniel ;

Michaud, Jacques L. ;

Rouleau, Guy A. ;

Haddad, Elie ;

Le Desit, Francoise ;

Awadalla, Philip .

PLOS GENETICS, 2013, 9 (09)

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