Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees.

ABSTRACT: Heteroplasmy-the presence of multiple mitochondrial DNA (mtDNA) haplotypes in an individual-can lead to numerous mitochondrial diseases. The presentation of such diseases depends on the frequency of the heteroplasmic variant in tissues, which, in turn, depends on the dynamics of mtDNA transmissions during germline and somatic development. Thus, understanding and predicting these dynamics between generations and within individuals is medically relevant. Here, we study patterns of heteroplasmy in 2 tissues from each of 345 humans in 96 multigenerational families, each with, at least, 2 siblings (a total of 249 mother-child transmissions). This experimental design has allowed us to estimate the timing of mtDNA mutations, drift, and selection with unprecedented precision. Our results are remar

SUBMITTER: Zaidi AA 

PROVIDER: S-EPMC6911200 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature