Repository logo
 

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Pagnamenta, Alistair T  ORCID logo  https://orcid.org/0000-0001-7334-0602
Gleadall, Nicholas 
Sanchis-Juan, Alba 
Stephens, Jonathan 

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.

Description

Keywords

Journal Title

Nature communications

Conference Name

Journal ISSN

2041-1723

Volume Title

11

Publisher