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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
- Source :
- Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020), Nature Communications
- Publication Year :
- 2020
- Publisher :
- Apollo - University of Cambridge Repository, 2020.
-
Abstract
- Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5–25%, implying biparental inheritance of mtDNA in 0.06% of offspring. However, analysing the nuclear whole genome sequence, we observe likely large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) transmitted from the father in all 7 families. Independently detecting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype. Finally, we show the haplotype allele fraction can be explained by complex concatenated mtDNA-derived sequences rearranged within the nuclear genome. We conclude that rare cryptic mega-NUMTs can resemble paternally mtDNA heteroplasmy, but find no evidence of paternal transmission of mtDNA in humans.<br />Recent evidence has questioned the dogma of strict maternal transmission of mitochondrial DNA (mtDNA) in humans. Wei et al. saw no evidence of paternal transmission of mtDNA in 11,035 human trios, and show that nuclear-mitochondrial segments (NUMTs) can give the impression of paternal mtDNA transmission, but are actually inherited through the nuclear genome.
- Subjects :
- 0301 basic medicine
Male
Mitochondrial DNA
Nuclear gene
Science
General Physics and Astronomy
Biology
Human mitochondrial genetics
DNA, Mitochondrial
Article
General Biochemistry, Genetics and Molecular Biology
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Mitochondrial genome
Humans
Family
Genetic variation
Allele
Author Correction
lcsh:Science
Whole genome sequencing
Genetics
Cell Nucleus
Multidisciplinary
Models, Genetic
Eukaryote
Haplotype
Reproducibility of Results
General Chemistry
Heteroplasmy
Pedigree
030104 developmental biology
chemistry
Haplotypes
Paternal Inheritance
lcsh:Q
Female
030217 neurology & neurosurgery
DNA
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020), Nature Communications
- Accession number :
- edsair.doi.dedup.....68fdc7d56c897d2a01eeea4623ebb16d
- Full Text :
- https://doi.org/10.17863/cam.52256