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Mitochondrial DNA (mtDNA) D-loop and rRNA coding regions of two Holstein cows from each of 18 maternal lineages were cloned and sequenced to determine the presence of hypervariable sites and the existence of heteroplasmic mtDNA. Seventeen sites of nucleotide sequence variations were observed within D-loop and rRNA coding regions. The hypervariable sites in the D-loop and rRNA coding regions were located at nt 169, 216, and 1594 and between nt 352 to 364. Heteroplasmic mtDNA was detected within D-loop and rRNA coding regions of mtDNA within independent maternal lineages. The presence of heteroplasmic mtDNA in cattle of the same maternal lineages suggests that mtDNA of one genotype could have been maintained for at least 11 generations in their respective maternal lineages. Because heteropiasmy was observed frequently and seemingly is persistent, selected amplification of specific mtDNA may not be a part of mtDNA inheritance. The mechanism of mtDNA deletions and insertions is proposed.

Sequence variation characteristics of D-loop, rRNA, tRNA, and polypeptide coding region of bovine mitochondrial DNA