Nuclear genome-wide associations with mitochondrial heteroplasmy.
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ABSTRACT:
SUBMITTER: Nandakumar P
PROVIDER: S-EPMC7968846 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Publications
Nuclear genome-wide associations with mitochondrial heteroplasmy.
Nandakumar Priyanka P Tian Chao C O'Connell Jared J Hinds David D Paterson Andrew D AD Sondheimer Neal N
Science advances 20210317 12
The role of the nuclear genome in maintaining the stability of the mitochondrial genome (mtDNA) is incompletely known. mtDNA sequence variants can exist in a state of heteroplasmy, which denotes the coexistence of organellar genomes with different sequences. Heteroplasmic variants that impair mitochondrial capacity cause disease, and the state of heteroplasmy itself is deleterious. However, mitochondrial heteroplasmy may provide an intermediate state in the emergence of novel mitochondrial haplo ...[more]
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