Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows.

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Abstract
Two mitochondrial genotypes are shown to exist within 1 Holstein cow maternal lineage. They were detected by the appearance of an extra Hae III recognition site in 1 genotype. The nucleotide sequence of this region was determined and the genotypes are distinguished by an adenine/guanine base transition which creates the new Hae III site. This point mutation occurs within an open reading frame at the 3rd position of a glycine codon and therefore does not alter the amino acid sequence. The present pattern of genotypes within the lineage demands that multiple shifts between genotypes must have occurred within the past 20 yr with the most rapid shift taking place in no more than 4 yr and indicates that mitochondrial DNA polymorphism can occur between maternally related mammals. The process that gave rise to different genotypes in 1 lineage is clearly of fundamental importance in understanding intraspecific mitochondrial polymorphism and evolution in mammals. Several potential mechanisms for rapid mitochondrial DNA variation are discussed in light of these results.

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