ArticleBMC bioinformatics2012
Primates and mouse NumtS in the UCSC Genome Browser.
Article in BMC bioinformatics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
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- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- MitoDelta: identifying mitochondrial DNA deletions at cell-type resolution from single-cell RNA sequencing data.BMC genomics · 2025Article
- Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.PLoS biology · 2024Article
- Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons.BMC biology · 2024Article
- Neandertal ancestry through time: Insights from genomes of ancient and present-day humans.bioRxiv : the preprint server for biology · 2024Article
- A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.Journal of translational medicine · 2024Article
- Article
- excluderanges: exclusion sets for T2T-CHM13, GRCm39, and other genome assemblies.Bioinformatics (Oxford, England) · 2023Article
- Extensive mitogenomic heteroplasmy and its implications in the phylogeny of the fish genus3 Biotech · 2023Article
- Article
- Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv : the preprint server for health sciences · 2023Article
- Mitochondrial polymorphism m.3017C>T of SHLP6 relates to heterothermy.Frontiers in physiology · 2023Article
- Comparison of detection methods and genome quality when quantifying nuclear mitochondrial insertions in vertebrate genomes.Frontiers in genetics · 2022Article
- A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.Nucleic acids research · 2021Article
- Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Cell competition acts as a purifying selection to eliminate cells with mitochondrial defects during early mouse development.Nature metabolism · 2021Article
- Graph Algorithms for Mixture Interpretation.Genes · 2021Article
- Mitochondrial gene expression in single cells shape pancreatic beta cells' sub-populations and explain variation in insulin pathway.Scientific reports · 2021Article
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3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNumtS (Nuclear MiTochondrial Sequences) are mitochondrial DNA sequences that, after stress events involving the mitochondrion, colonized the nuclear genome. Accurate mapping of NumtS avoids contamination during mtDNA PCR amplification, thus supplying reliable bases for detecting false heteroplasmies. In addition, since they commonly populate mammalian genomes (especially primates) and are polymorphic, in terms of presence/absence and content of SNPs, they may be used as evolutionary markers in intra- and inter-species population analyses.
resultsThe need for an exhaustive NumtS annotation led us to produce the Reference Human NumtS compilation, followed, as reported in this paper, by those for chimpanzee, rhesus macaque and mouse ones. Identification of NumtS inside the UCSC Genome Browser and their inter-species comparison required the design and the implementation of NumtS tracks, starting from the compilation data. NumtS retrieval through the UCSC Genome Browser, in the species examined, is now feasible at a glance.
conclusionsAnalyses involving NumtS tracks, together with other genome element tracks publicly available at the UCSC Genome Browser, can provide deep insight into genome evolution and comparative genomics, thus improving studies dealing with the mechanisms that drove the generation of NumtS. In addition, the NumtS tracks constitute a useful tool in the design of mitochondrial DNA primers.
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