Gene

Demography

Biology

mtDNA control region

Selection (genetic algorithm)

Computer science

Germline

Heteroplasmy

Evolutionary biology

Genetics

Genetic diversity

Mitochondrial DNA

Genome

Population

Sociology

Artificial intelligence

Haplotype

Human mitochondrial genetics

Human genetic variation

Allele

Genetic variation

Human genome

Science

Heteroplasmy incidence in mitochondrial DNA In humans, mitochondrial DNA (mtDNA) is predominantly maternally inherited. mtDNA is under selection to prevent heteroplasmy—the transmission of multiple genetic variants into the next generation. Wei et al. explored human mtDNA sequences to determine mtDNA genome structure, selection, and transmission. Whole-genome sequencing revealed that about 45% of individuals carry heteroplasmic mtDNA sequences at levels greater than 1% of their total mtDNA. Furthermore, studies of more than 1500 mother-offspring pairs indicated that the female line selected which mtDNA variants were passed on to children. This effect was influenced by the mother's nuclear genetic background. Thus, mtDNA is under selection at specific loci in the human germ line. Science , this issue p. eaau6520

Germline selection shapes human mitochondrial DNA diversity