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蛇类的重组模式揭示了PRDM9与启动子样特征之间的激烈竞争。

Patterns of recombination in snakes reveal a tug of war between PRDM9 and promoter-like features.

作者信息

Hoge Carla, de Manuel Marc, Mahgoub Mohamed, Okami Naima, Fuller Zachary, Banerjee Shreya, Baker Zachary, McNulty Morgan, Andolfatto Peter, Macfarlan Todd S, Schumer Molly, Tzika Athanasia C, Przeworski Molly

机构信息

Dept. of Biological Sciences, Columbia University.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.

出版信息

bioRxiv. 2023 Jul 11:2023.07.11.548536. doi: 10.1101/2023.07.11.548536.

DOI:10.1101/2023.07.11.548536
PMID:37502971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10369914/
Abstract

In vertebrates, there are two known mechanisms by which meiotic recombination is directed to the genome: in humans, mice, and other mammals, recombination occurs almost exclusively where the protein PRDM9 binds, while in species lacking an intact , such as birds and canids, recombination rates are elevated near promoter-like features. To test if PRDM9 also directs recombination in non-mammalian vertebrates, we focused on an exemplar species, the corn snake (). Unlike birds, this species possesses a single, intact ortholog. By inferring historical recombination rates along the genome from patterns of linkage disequilibrium and identifying crossovers in pedigrees, we found that PRDM9 specifies the location of recombination events outside of mammals. However, we also detected an independent effect of promoter-like features on recombination, which is more pronounced on macro- than microchromosomes. Thus, our findings reveal that the uses of PRDM9 and promoter-like features are not mutually-exclusive, and instead reflect a tug of war, which varies in strength along the genome and is more lopsided in some species than others.

摘要

在脊椎动物中,已知有两种机制可将减数分裂重组导向基因组:在人类、小鼠和其他哺乳动物中,重组几乎只发生在蛋白质PRDM9结合的位置,而在缺乏完整[相关内容未明确]的物种中,如鸟类和犬科动物,重组率在类似启动子的特征附近会升高。为了测试PRDM9是否也能在非哺乳动物脊椎动物中指导重组,我们聚焦于一个典型物种——玉米蛇()。与鸟类不同,该物种拥有一个完整的[相关内容未明确]直系同源基因。通过从连锁不平衡模式推断基因组上的历史重组率,并在谱系中识别交叉,我们发现PRDM9确定了哺乳动物以外的重组事件位置。然而,我们也检测到类似启动子的特征对重组有独立影响,这种影响在宏观染色体上比在微观染色体上更明显。因此,我们的研究结果表明,PRDM9和类似启动子特征的作用并非相互排斥,而是反映了一场拉锯战,其强度在基因组上各不相同,在某些物种中比其他物种更不平衡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/b977fea6b913/nihpp-2023.07.11.548536v1-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/6f13fb102c39/nihpp-2023.07.11.548536v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/662c97bbce4b/nihpp-2023.07.11.548536v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/c37ed201957c/nihpp-2023.07.11.548536v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/533f4fcf2f53/nihpp-2023.07.11.548536v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/b977fea6b913/nihpp-2023.07.11.548536v1-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/6f13fb102c39/nihpp-2023.07.11.548536v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/662c97bbce4b/nihpp-2023.07.11.548536v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/c37ed201957c/nihpp-2023.07.11.548536v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/533f4fcf2f53/nihpp-2023.07.11.548536v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0860/10369914/b977fea6b913/nihpp-2023.07.11.548536v1-f0005.jpg

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本文引用的文献

1
Bridging the gap between the evolutionary dynamics and the molecular mechanisms of meiosis: A model based exploration of the PRDM9 intra-genomic Red Queen.弥合减数分裂进化动态与分子机制之间的差距:基于 PRDM9 基因组内“红色皇后”的模型探索。
PLoS Genet. 2024 May 20;20(5):e1011274. doi: 10.1371/journal.pgen.1011274. eCollection 2024 May.
2
Essential roles of the ANKRD31-REC114 interaction in meiotic recombination and mouse spermatogenesis.ANKRD31-REC114 相互作用在减数分裂重组和小鼠精子发生中的基本作用。
Proc Natl Acad Sci U S A. 2023 Nov 21;120(47):e2310951120. doi: 10.1073/pnas.2310951120. Epub 2023 Nov 17.
3
Down the Penrose stairs, or how selection for fewer recombination hotspots maintains their existence.
沿着彭罗斯阶梯走下去,或者说,选择减少重组热点如何维持它们的存在。
Elife. 2023 Oct 13;12:e83769. doi: 10.7554/eLife.83769.
4
Recombination and selection against introgressed DNA.针对渗入DNA的重组与选择
Evolution. 2023 Apr 1;77(4):1131-1144. doi: 10.1093/evolut/qpad021.
5
Orchestrating recombination initiation in mice and men.调控小鼠和人类中的重组起始
Curr Top Dev Biol. 2023;151:27-42. doi: 10.1016/bs.ctdb.2022.05.001. Epub 2022 Aug 8.
6
Decorating chromatin for enhanced genome editing using CRISPR-Cas9.通过 CRISPR-Cas9 对染色质进行修饰以增强基因组编辑。
Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2204259119. doi: 10.1073/pnas.2204259119. Epub 2022 Dec 2.
7
A paternal bias in germline mutation is widespread in amniotes and can arise independently of cell division numbers.种系突变中存在广泛的父系偏向,并且这种偏向可以独立于细胞分裂次数而发生。
Elife. 2022 Aug 2;11:e80008. doi: 10.7554/eLife.80008.
8
losses in vertebrates are coupled to those of paralogs and .脊椎动物的缺失与同源基因和 的缺失有关。
Proc Natl Acad Sci U S A. 2022 Mar 1;119(9). doi: 10.1073/pnas.2114401119.
9
Microchromosomes are building blocks of bird, reptile, and mammal chromosomes.微染色体是鸟类、爬行类和哺乳类染色体的组成部分。
Proc Natl Acad Sci U S A. 2021 Nov 9;118(45). doi: 10.1073/pnas.2112494118.
10
Why Do Some Vertebrates Have Microchromosomes?为什么有些脊椎动物有微染色体?
Cells. 2021 Aug 24;10(9):2182. doi: 10.3390/cells10092182.