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Nucleic Acids Research, 1985, Vol. 13, No. 22 8093-8104
© 1985

Articles

Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA

William W. Hauswirth and David A. Clayton1

Department of Immunology and Medical Microbiology, College of Medicine, University of Florida Gainesville, FL 32610 1Department of Pathology, Stanford University School of Medicine Stanford, CA 94305, USA

Received July 30, 1985. Revised October 26, 1985. Accepted October 26, 1985.

Mitochondrial DNA from human tissue culture cells contains heterogeneous sequences located within a previously identified, evolutionally conserved region termed CSB-2. CSB-2 is located near the origin of heavy-strand mitochondrial DNA synthesis and the major transcriptional promoters for each strand of human mitochondrial DNA. Nucleotide sequence analysis of cloned mitochondrial DNA and electrophoretic analysis of appropriate small fragments from cellular mitochondrial DNA show that the variability is limited to a homopolymer sequence which can range in length from 6 to 12 residues. In vitro transcriptional analyses, using several of these cloned length polymorphs as templates and partially purified human mitochondrial RNA polymerase, demonstrate that the most common polymorphs will support accurate transcriptional initiation.


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