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物种内部和物种之间重组率变异的遗传学

Genetics of Recombination Rate Variation Within and Between Species.

作者信息

Payseur Bret A

机构信息

Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI.

出版信息

J Evol Biol. 2024 Dec 16. doi: 10.1093/jeb/voae158.

DOI:10.1093/jeb/voae158
PMID:39680417
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12167755/
Abstract

Recombination diversifies the genomes of offspring, influences the evolutionary dynamics of populations, and ensures that chromosomes segregate properly during meiosis. Individuals recombine at different rates but observed levels of variation in recombination rate remain mostly unexplained. Genetic dissection of differences in recombination rate within and between species provides a powerful framework for understanding how this trait evolves. In this Perspective, I amalgamate published findings from genetic studies of variation in the genome-wide number of crossovers within and between species, and I use exploratory analyses to identify preliminary patterns. The narrow-sense heritability of crossover count is consistently low, indicating limited resemblance among relatives and predicting a weak response to short-term selection. Variants associated with crossover number within populations span the range of minor allele frequency. The size of the additive effect of recombination-associated variants, along with a negative correlation between this effect and minor allele frequency, raises the prospect that mutations inducing phenotypic shifts larger than a few crossovers are deleterious, though the contributions of methodological biases to these patterns deserve investigation. Quantitative trait loci that contribute to differences between populations or species alter crossover number in both directions, a pattern inconsistent with selection toward a constant optimum for this trait. Building on this characterization of genetic variation in crossover number within and between species, I describe fruitful avenues for future research. Better integrating recombination rate into quantitative genetics will reveal the balance of evolutionary forces responsible for genetic variation in this trait that shapes inheritance.

摘要

重组使后代的基因组多样化,影响种群的进化动态,并确保染色体在减数分裂过程中正确分离。个体的重组速率不同,但观察到的重组速率变化水平大多仍无法解释。对物种内部和物种之间重组速率差异进行基因剖析,为理解这一性状如何进化提供了一个有力的框架。在这篇观点文章中,我整合了已发表的关于物种内部和物种之间全基因组交叉数变异的遗传研究结果,并通过探索性分析来确定初步模式。交叉数的狭义遗传力一直很低,这表明亲属之间的相似性有限,并预示着对短期选择的反应较弱。与群体内交叉数相关的变异跨越了次要等位基因频率的范围。重组相关变异的加性效应大小,以及这种效应与次要等位基因频率之间的负相关,增加了这样一种可能性,即诱导表型变化大于少数交叉的突变是有害的,尽管方法学偏差对这些模式的贡献值得研究。导致群体或物种之间差异的数量性状位点在两个方向上都会改变交叉数,这一模式与针对该性状朝着恒定最优值进行选择不一致。基于对物种内部和物种之间交叉数遗传变异的这一特征描述,我描述了未来研究的富有成效的途径。更好地将重组速率整合到数量遗传学中,将揭示负责塑造遗传的这一性状遗传变异的进化力量的平衡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d15/12317823/e78f4a6da910/voae158_iffig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d15/12317823/e78f4a6da910/voae158_iffig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d15/12317823/e78f4a6da910/voae158_iffig1.jpg

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本文引用的文献

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Understanding the Genetic Basis of Variation in Meiotic Recombination: Past, Present, and Future.理解减数分裂重组中变异的遗传基础:过去、现在和未来。
Mol Biol Evol. 2024 Jul 3;41(7). doi: 10.1093/molbev/msae112.
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Pleiotropy, epistasis and the genetic architecture of quantitative traits.数量性状的多效性、上位性和遗传结构。
Nat Rev Genet. 2024 Sep;25(9):639-657. doi: 10.1038/s41576-024-00711-3. Epub 2024 Apr 2.
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Divergence and conservation of the meiotic recombination machinery.减数分裂重组机制的分歧与保守性。
Nat Rev Genet. 2024 May;25(5):309-325. doi: 10.1038/s41576-023-00669-8. Epub 2023 Nov 30.
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Genetic architecture of individual meiotic crossover rate and distribution in Atlantic Salmon.大西洋鲑个体减数分裂交叉互换率和分布的遗传结构。
Sci Rep. 2023 Nov 22;13(1):20481. doi: 10.1038/s41598-023-47208-3.
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Modeling Recombination Rate as a Quantitative Trait Reveals New Insight into Selection in Humans.将重组率建模为一种数量性状,为人类选择提供了新的见解。
Genome Biol Evol. 2023 Aug 1;15(8). doi: 10.1093/gbe/evad132.
6
Modeling the evolution of recombination plasticity: A prospective review.重组可塑性进化的建模:前瞻性综述。
Bioessays. 2023 Aug;45(8):e2200237. doi: 10.1002/bies.202200237. Epub 2023 May 29.
7
Variation and genetic control of individual recombination rates in Norwegian Red dairy cattle.挪威红牛个体重组率的变异与遗传控制
J Dairy Sci. 2023 Feb;106(2):1130-1141. doi: 10.3168/jds.2022-22368. Epub 2022 Dec 19.
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Recombination rates in pigs differ between breeds, sexes and individuals, and are associated with the RNF212, SYCP2, PRDM7, MEI1 and MSH4 loci.猪的重组率在不同品种、性别和个体之间存在差异,与 RNF212、SYCP2、PRDM7、MEI1 和 MSH4 基因座有关。
Genet Sel Evol. 2022 May 20;54(1):33. doi: 10.1186/s12711-022-00723-9.
9
Genomic prediction of the recombination rate variation in barley - A route to highly recombinogenic genotypes.基因组预测大麦重组率变异——获得高重组基因型的途径。
Plant Biotechnol J. 2022 Apr;20(4):676-690. doi: 10.1111/pbi.13746. Epub 2021 Dec 11.
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Evolution and Plasticity of Genome-Wide Meiotic Recombination Rates.全基因组减数分裂重组率的进化与可塑性
Annu Rev Genet. 2021 Nov 23;55:23-43. doi: 10.1146/annurev-genet-021721-033821. Epub 2021 Jul 26.