Molecular basis for maternal inheritance of human mitochondrial DNA.

ABSTRACT: Uniparental inheritance of mitochondrial DNA (mtDNA) is an evolutionary trait found in nearly all eukaryotes. In many species, including humans, the sperm mitochondria are introduced to the oocyte during fertilization^1,2. The mechanisms hypothesized to prevent paternal mtDNA transmission include ubiquitination of the sperm mitochondria and mitophagy^3,4. However, the causative mechanisms of paternal mtDNA elimination have not been defined^5,6. We found that mitochondria in human spermatozoa are devoid of intact mtDNA and lack mitochondrial transcription factor A (TFAM)-the major nucleoid protein required to protect, maintain and transcribe mtDNA. During spermatogenesis, sperm cells express an isoform of TFAM, which retains the mitochondrial presequence, ordin

SUBMITTER: Lee W 

PROVIDER: S-EPMC10763495 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature