ArticleHuman genetics2012
Polymorphic NumtS trace human population relationships.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 62 citations in OpenAlex.
- Introgressed mitochondrial fragments from archaic hominins alter nuclear genome function in modern humans.Science advances · 2026Article
- Article
- A comprehensive atlas of nuclear sequences of mitochondrial origin (NUMT) inserted into the pig genome.Genetics, selection, evolution : GSE · 2024Article
- Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.PLoS biology · 2024Article
- Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma.Genome medicine · 2024Article
- Massive invasion of organellar DNA drives nuclear genome evolution inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Interrogating 1000 insect genomes for NUMTs: A risk assessment for estimates of species richness.PloS one · 2023Article
- Article
- The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes.International journal of molecular sciences · 2022Article
- Comparison of detection methods and genome quality when quantifying nuclear mitochondrial insertions in vertebrate genomes.Frontiers in genetics · 2022Article
- Characterization of nuclear mitochondrial insertions in the whole genomes of primates.NAR genomics and bioinformatics · 2020Article
- Identification of Mitochondrial DNA (NUMTs) in the Nuclear Genome ofInternational journal of molecular sciences · 2020Article
- Whole-genome de novo assemblies reveal extensive structural variations and dynamic organelle-to-nucleus DNA transfers in African and Asian rice.The Plant journal : for cell and molecular biology · 2020Article
- Archaic mitochondrial DNA inserts in modern day nuclear genomes.BMC genomics · 2019Article
- Mitigating the effects of reference sequence bias in single-multiplex massively parallel sequencing of the mitochondrial DNA control region.Forensic science international. Genetics · 2019Article
- Numtogenesis as a mechanism for development of cancer.Seminars in cancer biology · 2017Review
- NumtS colonization in mammalian genomes.Scientific reports · 2017Article
- Quantifying the Number of Independent Organelle DNA Insertions in Genome Evolution and Human Health.Genome biology and evolution · 2017Article
- Migration of mitochondrial DNA in the nuclear genome of colorectal adenocarcinoma.Genome medicine · 2017Article
- Endosymbiotic gene transfer from prokaryotic pangenomes: Inherited chimerism in eukaryotes.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human genome is constantly subjected to evolutionary forces which shape its architecture. Insertions of mitochondrial DNA sequences into nuclear genome (NumtS) have been described in several eukaryotic species, including Homo sapiens and other primates. The ongoing process of the generation of NumtS has made them valuable markers in primate phylogenetic studies, as well as potentially informative loci for reconstructing the genetic history of modern humans. Here, we report the identification of 53 human-specific NumtS by inspection of the UCSC genome browser, showing that they may be direct insertions of mitochondrial DNA into the human nuclear DNA after the human-chimpanzee split. In silico analyses allowed us to identify 14 NumtS which are polymorphic in terms of their presence/absence within the human genome in individuals of different ancestry. The allele frequencies of these polymorphic NumtS were calculated for 1000 Genomes Project sequence data from 13 populations worldwide, and principal components analysis and hierarchical clustering methods allowed the detection of strong signals of geographical structure related to the genetic diversity of these loci. All identified polymorphic human-specific NumtS together with a tandemly duplicated NumtS have also been validated by PCR amplification on a panel of 60 samples belonging to five native populations worldwide, confirming the expected NumtS variability. On the basis of these findings, we have succeeded in depicting the landscape of variation of a series of NumtS in several ethnic groups, making an advance in their identification as useful markers in the study on human population genetics.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.