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线粒体 DNA 在北方田鼠基因组中的大量插入。

Numerous insertions of mitochondrial DNA in the genome of the northern mole vole, Ellobius talpinus.

机构信息

Institute of Botany and Landscape Ecology, University of Greifswald, Soldmannstr. 15, Greifswald, 17489, Germany.

Department of Vertebrate Zoology, Saint Petersburg State University, Universitetskaya nab. 7/9, Saint Petersburg, 199034, Russia.

出版信息

Mol Biol Rep. 2023 Dec 29;51(1):36. doi: 10.1007/s11033-023-08913-4.


DOI:10.1007/s11033-023-08913-4
PMID:38157080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10756869/
Abstract

BACKGROUND: Ellobius talpinus is a subterranean rodent representing an attractive model in population ecology studies due to its highly special lifestyle and sociality. In such studies, mitochondrial DNA (mtDNA) is widely used. However, if nuclear copies of mtDNA, aka NUMTs, are present, they may co-amplify with the target mtDNA fragment, generating misleading results. The aim of this study was to determine whether NUMTs are present in E. talpinus. METHODS AND RESULTS: PCR amplification of the putative mtDNA CytB-D-loop fragment using 'universal' primers from 56 E. talpinus samples produced multiple double peaks in 90% of the sequencing chromatograms. To reveal NUMTs, molecular cloning and sequencing of PCR products of three specimens was conducted, followed by phylogenetic analysis. The pseudogene nature of three out of the seven detected haplotypes was confirmed by their basal positions in relation to other Ellobius haplotypes in the phylogenetic tree. Additionally, 'haplotype B' was basal in relation to other E. talpinus haplotypes and found present in very distant sampling sites. BLASTN search revealed 195 NUMTs in the E. talpinus nuclear genome, including fragments of all four PCR amplified pseudogenes. Although the majority of the NUMTs studied were short, the entire mtDNA had copies in the nuclear genome. The most numerous NUMTs were found for rrnL, COXI, and D-loop. CONCLUSIONS: Numerous NUMTs are present in E. talpinus and can be difficult to discriminate against mtDNA sequences. Thus, in future population or phylogenetic studies in E. talpinus, the possibility of cryptic NUMTs amplification should always be taken into account.

摘要

背景:艾鼬是一种穴居啮齿动物,因其高度特殊的生活方式和社会性,成为种群生态学研究中极具吸引力的模式生物。在这些研究中,线粒体 DNA(mtDNA)被广泛应用。然而,如果存在核拷贝的 mtDNA,即 NUMTs,它们可能会与目标 mtDNA 片段一起扩增,产生误导性的结果。本研究旨在确定艾鼬是否存在 NUMTs。

方法和结果:使用来自 56 个艾鼬样本的“通用”引物对假定的 mtDNA CytB-D-loop 片段进行 PCR 扩增,90%的测序图谱中出现了多个双峰。为了揭示 NUMTs,对三个标本的 PCR 产物进行了分子克隆和测序,然后进行了系统发育分析。在所检测到的七个单倍型中,有三个是假基因,这是通过它们在系统发育树中与其他艾鼬单倍型的相对基础位置来证实的。此外,“单倍型 B”在与其他艾鼬单倍型的关系中处于基础位置,并且在非常遥远的采样地点发现。BLASTN 搜索显示,艾鼬的核基因组中有 195 个 NUMTs,包括所有四个扩增的假基因片段。尽管所研究的 NUMTs 大多数较短,但整个 mtDNA 都有核基因组的副本。在 rrnL、COXI 和 D-loop 中发现了最多的 NUMTs。

结论:艾鼬中存在大量的 NUMTs,并且很难与 mtDNA 序列区分开来。因此,在未来的艾鼬种群或系统发育研究中,应该始终考虑到隐匿的 NUMTs 扩增的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/85ff6889ea9d/11033_2023_8913_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/63b3f5cf27a3/11033_2023_8913_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/ef258f72134d/11033_2023_8913_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/85ff6889ea9d/11033_2023_8913_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/63b3f5cf27a3/11033_2023_8913_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/ef258f72134d/11033_2023_8913_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3d6/10756869/85ff6889ea9d/11033_2023_8913_Fig3_HTML.jpg

相似文献

[1]
Numerous insertions of mitochondrial DNA in the genome of the northern mole vole, Ellobius talpinus.

Mol Biol Rep. 2023-12-29

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[3]
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Parasitol Res. 2013-1-29

[4]
[Variability of Cytochrome b Gene and Adjacent Section of Gene tRNA-Thr of Mitochondrial DNA in the Northern Mole Vole Ellobius talpinus (Mammalia, Rodentia)].

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[5]
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引用本文的文献

[1]
Repeat-Rich Regions Cause False-Positive Detection of NUMTs: A Case Study in Amphibians Using an Improved Cane Toad Reference Genome.

Genome Biol Evol. 2024-11-1

本文引用的文献

[1]
Interrogating 1000 insect genomes for NUMTs: A risk assessment for estimates of species richness.

PLoS One. 2023

[2]
Comparison of detection methods and genome quality when quantifying nuclear mitochondrial insertions in vertebrate genomes.

Front Genet. 2022-11-22

[3]
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Nature. 2022-11

[4]
Translocation of mitochondrial DNA into the nuclear genome blurs phylogeographic and conservation genetic studies in seabirds.

R Soc Open Sci. 2022-6-15

[5]
Geographic Mosaic of Extensive Genetic Variations in Subterranean Mole Voles as a Consequence of Habitat Fragmentation and Hybridization.

Life (Basel). 2022-5-13

[6]
Genomic landscape of mitochondrial DNA insertions in 23 bat genomes: characteristics, loci, phylogeny, and polymorphism.

Integr Zool. 2022-9

[7]
MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms.

Mol Biol Evol. 2018-6-1

[8]
BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis.

Science. 2018-2-23

[9]
NumtS colonization in mammalian genomes.

Sci Rep. 2017-11-27

[10]
Reproduction, ageing, and longevity in two species of laboratory rodents with different life histories.

Biogerontology. 2017-7-24

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