Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought to be ancient, preceding human speciation 1 – 3 . Here we analyse whole-genome sequences from 66,083 people—including 12,509 people w...

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Veröffentlicht in:	Nature (London) 2022-11, Vol.611 (7934), p.105-114
Hauptverfasser:	Wei, Wei, Schon, Katherine R., Elgar, Greg, Orioli, Andrea, Tanguy, Melanie, Giess, Adam, Tischkowitz, Marc, Caulfield, Mark J., Chinnery, Patrick F.
Format:	Artikel
Sprache:	eng
Schlagworte:	45/23 631/208/212 631/443/319/333 631/67/69 692/420/2489/144 Cancer Cell Nucleus - genetics Cell Nucleus - metabolism Chromosomes Confidence intervals Deoxyribonucleic acid DNA DNA biosynthesis DNA Breaks, Double-Stranded DNA methylation DNA Repair DNA, Mitochondrial - genetics DNA, Mitochondrial - metabolism Double-strand break repair Families & family life Gene sequencing Genome, Human - genetics Genomes Genomics Germ-Line Mutation Humanities and Social Sciences Humans Insertion Liposarcoma Liposarcoma, Myxoid - genetics Mann-Whitney U test Mitochondria - genetics Mitochondrial DNA multidisciplinary Mutation Neoplasms - genetics Nuclei (cytology) Nucleotide sequence Organelles Phylogeny Replication origins Science Science (multidisciplinary) Sequence Analysis, DNA Tumors Zinc finger proteins
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