• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

遗传负荷在大群体中具有潜力,但在小的近交群体中才得以体现。

Genetic load has potential in large populations but is realized in small inbred populations.

作者信息

Mathur Samarth, DeWoody J Andrew

机构信息

Department of Biological Sciences Purdue University West Lafayette Indiana USA.

Present address: Department of Evolution, Ecology and Organismal Biology The Ohio State University Columbus Ohio USA.

出版信息

Evol Appl. 2021 Apr 10;14(6):1540-1557. doi: 10.1111/eva.13216. eCollection 2021 Jun.

DOI:10.1111/eva.13216
PMID:34178103
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8210801/
Abstract

Populations with higher genetic diversity and larger effective sizes have greater evolutionary capacity (i.e., adaptive potential) to respond to ecological stressors. We are interested in how the variation captured in protein-coding genes fluctuates relative to overall genomic diversity and whether smaller populations suffer greater costs due to their genetic load of deleterious mutations compared with larger populations. We analyzed individual whole-genome sequences ( = 74) from three different populations of Montezuma quail (), a small ground-dwelling bird that is sustainably harvested in some portions of its range but is of conservation concern elsewhere. Our historical demographic results indicate that Montezuma quail populations in the United States exhibit low levels of genomic diversity due in large part to long-term declines in effective population sizes over nearly a million years. The smaller and more isolated Texas population is significantly more inbred than the large Arizona and the intermediate-sized New Mexico populations we surveyed. The Texas gene pool has a significantly smaller proportion of strongly deleterious variants segregating in the population compared with the larger Arizona gene pool. Our results demonstrate that even in small populations, highly deleterious mutations are effectively purged and/or lost due to drift. However, we find that in small populations the realized genetic load is elevated because of inbreeding coupled with a higher frequency of slightly deleterious mutations that are manifested in homozygotes. Overall, our study illustrates how population genomics can be used to proactively assess both neutral and functional aspects of contemporary genetic diversity in a conservation framework while simultaneously considering deeper demographic histories.

摘要

具有更高遗传多样性和更大有效种群规模的群体具有更强的进化能力(即适应潜力)来应对生态压力源。我们感兴趣的是,蛋白质编码基因中捕获的变异相对于整体基因组多样性如何波动,以及与较大种群相比,较小种群是否因其有害突变的遗传负荷而承受更大的代价。我们分析了来自蒙特祖马鹌鹑(一种小型地栖鸟类)三个不同种群的个体全基因组序列(n = 74),该鸟类在其分布范围的某些区域可持续收获,但在其他地方则受到保护关注。我们的历史种群统计结果表明,美国的蒙特祖马鹌鹑种群基因组多样性水平较低,这在很大程度上归因于近百万年来有效种群规模的长期下降。我们调查的较小且更孤立的德克萨斯种群的近亲繁殖程度明显高于大型的亚利桑那种群和中等规模的新墨西哥种群。与较大的亚利桑那基因库相比,德克萨斯基因库中在种群中分离的强有害变异比例明显更小。我们的结果表明,即使在小种群中,高度有害的突变也会由于漂变而有效地被清除和/或丢失。然而,我们发现,在小种群中,由于近亲繁殖以及纯合子中表现出的轻度有害突变频率较高,实际的遗传负荷会升高。总体而言,我们的研究说明了如何在保护框架中利用种群基因组学来主动评估当代遗传多样性的中性和功能方面,同时考虑更深入的种群统计历史。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/9e2abbfd0467/EVA-14-1540-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/c3b6a0d4422a/EVA-14-1540-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/e9449a8a3b7e/EVA-14-1540-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/8ad1d5a60318/EVA-14-1540-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/00adede6f0c9/EVA-14-1540-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/c3f3f6838258/EVA-14-1540-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/9e2abbfd0467/EVA-14-1540-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/c3b6a0d4422a/EVA-14-1540-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/e9449a8a3b7e/EVA-14-1540-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/8ad1d5a60318/EVA-14-1540-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/00adede6f0c9/EVA-14-1540-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/c3f3f6838258/EVA-14-1540-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2110/8210801/9e2abbfd0467/EVA-14-1540-g003.jpg

相似文献

1
Genetic load has potential in large populations but is realized in small inbred populations.遗传负荷在大群体中具有潜力,但在小的近交群体中才得以体现。
Evol Appl. 2021 Apr 10;14(6):1540-1557. doi: 10.1111/eva.13216. eCollection 2021 Jun.
2
An evolutionary perspective on genetic load in small, isolated populations as informed by whole genome resequencing and forward-time simulations.基于全基因组重测序和正向时间模拟的小而孤立群体中遗传负荷的进化视角。
Evolution. 2023 Mar 1;77(3):690-704. doi: 10.1093/evolut/qpac061.
3
Genetic variability and population structure of the Montezuma quail () in the northern limit of its distribution.蒙氏马鸡()在其分布北限的遗传变异性和种群结构。
PeerJ. 2023 Dec 8;11:e16585. doi: 10.7717/peerj.16585. eCollection 2023.
4
From high masked to high realized genetic load in inbred Scandinavian wolves.从高隐性到高显性遗传负荷,存在于斯堪的纳维亚近交狼中
Mol Ecol. 2023 Apr;32(7):1567-1580. doi: 10.1111/mec.16802. Epub 2022 Dec 13.
5
High genetic load without purging in caribou, a diverse species at risk.遗传负荷高但未清除,驯鹿面临灭绝风险,该物种多样但处境危险。
Curr Biol. 2024 Mar 25;34(6):1234-1246.e7. doi: 10.1016/j.cub.2024.02.002. Epub 2024 Feb 27.
6
Functional genomic diversity is correlated with neutral genomic diversity in populations of an endangered rattlesnake.功能基因组多样性与濒危响尾蛇种群中性基因组多样性相关。
Proc Natl Acad Sci U S A. 2023 Oct 24;120(43):e2303043120. doi: 10.1073/pnas.2303043120. Epub 2023 Oct 16.
7
Genomic Consequences of Long-Term Population Decline in Brown Eared Pheasant.褐马鸡长期种群数量下降的基因组后果
Mol Biol Evol. 2021 Jan 4;38(1):263-273. doi: 10.1093/molbev/msaa213.
8
Structural genomic variation in the inbred Scandinavian wolf population contributes to the realized genetic load but is positively affected by immigration.斯堪的纳维亚半岛近亲繁殖的狼种群中的结构基因组变异导致了实际的遗传负荷,但受到移民的积极影响。
Evol Appl. 2024 Feb 7;17(2):e13652. doi: 10.1111/eva.13652. eCollection 2024 Feb.
9
Genetic Load and Adaptive Potential of a Recovered Avian Species that Narrowly Avoided Extinction.遗传负荷与一种近乎避免灭绝的恢复鸟类物种的适应潜力。
Mol Biol Evol. 2023 Dec 1;40(12). doi: 10.1093/molbev/msad256.
10
Genomic signatures of inbreeding and mutation load in tree ferns.树蕨的近亲繁殖和突变负荷的基因组特征。
Plant J. 2024 Nov;120(4):1522-1535. doi: 10.1111/tpj.17064. Epub 2024 Oct 10.

引用本文的文献

1
Predicted deleterious mutations reveal the genetic architecture of male reproductive success in a lekking bird.预测的有害突变揭示了一种求偶场鸟类雄性繁殖成功的遗传结构。
Nat Ecol Evol. 2025 Aug 11. doi: 10.1038/s41559-025-02802-8.
2
Linking Measures of Inbreeding and Genetic Load to Demographic Histories Across Three Species of Bears.将近亲繁殖和遗传负荷的测量与三种熊的种群历史联系起来。
Evol Appl. 2025 Jul 16;18(7):e70133. doi: 10.1111/eva.70133. eCollection 2025 Jul.
3
Genomic Evaluation of Assisted Gene Flow Options in an Endangered Rattlesnake.

本文引用的文献

1
Mutation load is the spectre of species conservation.突变负荷是物种保护面临的幽灵。
Nat Ecol Evol. 2020 Aug;4(8):1004-1006. doi: 10.1038/s41559-020-1204-8.
2
Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex.高山野山羊通过严重瓶颈清除高度有害突变。
Nat Commun. 2020 Feb 21;11(1):1001. doi: 10.1038/s41467-020-14803-1.
3
The quail genome: insights into social behaviour, seasonal biology and infectious disease response.鹌鹑基因组:揭示社会行为、季节性生物学和传染病反应的奥秘。
濒危响尾蛇辅助基因流动方案的基因组评估
Mol Ecol. 2025 Aug;34(16):e70014. doi: 10.1111/mec.70014. Epub 2025 Jul 7.
4
On the Precipice of Extinction: Genetic Data in the Conservation Management of In Situ and Ex Situ Collections of the Critically Endangered (Tuggeranong Lignum).濒临灭绝边缘:极度濒危(图格拉农木麻黄)原地和迁地保护收集品保护管理中的遗传数据
Plants (Basel). 2025 Jun 12;14(12):1812. doi: 10.3390/plants14121812.
5
A Guide for Developing Demo-Genetic Models to Simulate Genetic Rescue.开发演示遗传模型以模拟遗传拯救的指南。
Evol Appl. 2025 May 14;18(5):e70092. doi: 10.1111/eva.70092. eCollection 2025 May.
6
Constraints to gene flow increase the risk of genome erosion in the Ngorongoro Crater lion population.基因流动的限制增加了恩戈罗恩戈罗火山口狮子种群基因组侵蚀的风险。
Commun Biol. 2025 Apr 21;8(1):640. doi: 10.1038/s42003-025-07986-0.
7
Balancing Inbreeding and Outbreeding Risks to Inform Translocations Throughout the Range of an Imperiled Darter.平衡近亲繁殖和远亲繁殖风险,为濒危镖鲈整个分布范围内的物种迁移提供参考。
Evol Appl. 2025 Mar 23;18(3):e70088. doi: 10.1111/eva.70088. eCollection 2025 Mar.
8
Genomes of Galápagos Mockingbirds Reveal the Impact of Island Size and Past Demography on Inbreeding and Genetic Load in Contemporary Populations.加拉帕戈斯模仿鸟的基因组揭示了岛屿大小和过去的种群统计学对当代种群近亲繁殖和遗传负荷的影响。
Mol Ecol. 2025 Mar;34(5):e17665. doi: 10.1111/mec.17665. Epub 2025 Feb 6.
9
Genomic Insights Into Red Squirrels in Scotland Reveal Loss of Heterozygosity Associated With Extreme Founder Effects.对苏格兰红松鼠的基因组洞察揭示了与极端奠基者效应相关的杂合性丧失。
Evol Appl. 2025 Jan 15;18(1):e70072. doi: 10.1111/eva.70072. eCollection 2025 Jan.
10
Density dependence maintains long-term stability despite increased isolation and inbreeding in the Florida Scrub-Jay.尽管佛罗里达灌丛鸦的隔离和近亲繁殖增加,但密度依赖性维持了其长期稳定性。
Ecol Lett. 2024 Dec;27(12):e14483. doi: 10.1111/ele.14483.
BMC Biol. 2020 Feb 12;18(1):14. doi: 10.1186/s12915-020-0743-4.
4
Among-family variation in survival and gene expression uncovers adaptive genetic variation in a threatened fish.家族间生存和基因表达的差异揭示了受威胁鱼类中的适应性遗传变异。
Mol Ecol. 2020 Mar;29(6):1035-1049. doi: 10.1111/mec.15334. Epub 2019 Dec 29.
5
Novel signals of adaptive genetic variation in northwestern Atlantic cod revealed by whole-genome sequencing.全基因组测序揭示西北大西洋鳕鱼适应性遗传变异的新信号。
Evol Appl. 2019 Sep 13;12(10):1971-1987. doi: 10.1111/eva.12861. eCollection 2019 Dec.
6
Island area, body size and demographic history shape genomic diversity in Darwin's finches and related tanagers.岛屿面积、体型大小和种群历史塑造了达尔文雀及相关唐纳雀的基因组多样性。
Mol Ecol. 2019 Nov;28(22):4914-4925. doi: 10.1111/mec.15266. Epub 2019 Oct 26.
7
Conservation genetics: Linking science with practice.保护遗传学:将科学与实践联系起来。
Mol Ecol. 2019 Sep;28(17):3848-3856. doi: 10.1111/mec.15202. Epub 2019 Sep 2.
8
An evaluation of sequencing coverage and genotyping strategies to assess neutral and adaptive diversity.评估测序覆盖度和基因分型策略,以评估中性和适应性多样性。
Mol Ecol Resour. 2019 Nov;19(6):1497-1515. doi: 10.1111/1755-0998.13070. Epub 2019 Sep 9.
9
Background selection and F : Consequences for detecting local adaptation.背景选择和 F 值:对检测局部适应的影响。
Mol Ecol. 2019 Sep;28(17):3902-3914. doi: 10.1111/mec.15197. Epub 2019 Sep 3.
10
The Exciting Potential and Remaining Uncertainties of Genetic Rescue.遗传拯救的令人兴奋的潜力和遗留的不确定性。
Trends Ecol Evol. 2019 Dec;34(12):1070-1079. doi: 10.1016/j.tree.2019.06.006. Epub 2019 Jul 8.