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Nucleic Acids Res. Nov 25, 1985; 13(22): 8093–8104.
PMCID: PMC322112

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


Mitochondrial DNA from human tissue culture cells contains heterogeneous sequences located within a previously identified, evolutionarily 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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  • Dawid IB, Blackler AW. Maternal and cytoplasmic inheritance of mitochondrial DNA in Xenopus. Dev Biol. 1972 Oct;29(2):152–161. [PubMed]
  • Hutchison CA, 3rd, Newbold JE, Potter SS, Edgell MH. Maternal inheritance of mammalian mitochondrial DNA. Nature. 1974 Oct 11;251(5475):536–538. [PubMed]
  • Kroon AM, Pepe G, Bakker H, Holtrop M, Bollen JE, Van Bruggen EF, Cantatore P, Terpstra P, Saccone C. The restriction fragment map of rat-liver mitochondrial DNA: a reconsideration. Biochim Biophys Acta. 1977 Sep 20;478(2):128–145. [PubMed]
  • Hayashi J, Yonekawa H, Gotoh O, Motohashi J, Tagashira Y. Two different molecular types of rat mitochondrial DNAs. Biochem Biophys Res Commun. 1978 Apr 14;81(3):871–877. [PubMed]
  • Avise JC, Lansman RA, Shade RO. The use of restriction endonucleases to measure mitochondrial DNA sequence relatedness in natural populations. I. Population structure and evolution in the genus Peromyscus. Genetics. 1979 May;92(1):279–295. [PMC free article] [PubMed]
  • Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. [PMC free article] [PubMed]
  • Hauswirth WW, Laipis PJ. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4686–4690. [PMC free article] [PubMed]
  • Olivo PD, Van de Walle MJ, Laipis PJ, Hauswirth WW. Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop. Nature. 1983 Nov 24;306(5941):400–402. [PubMed]
  • Hauswirth WW, Van de Walle MJ, Laipis PJ, Olivo PD. Heterogeneous mitochondrial DNA D-loop sequences in bovine tissue. Cell. 1984 Jul;37(3):1001–1007. [PubMed]
  • Greenberg BD, Newbold JE, Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 1983 Jan-Feb;21(1-2):33–49. [PubMed]
  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. [PubMed]
  • Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA. Sequence and gene organization of mouse mitochondrial DNA. Cell. 1981 Oct;26(2 Pt 2):167–180. [PubMed]
  • Anderson S, de Bruijn MH, Coulson AR, Eperon IC, Sanger F, Young IG. Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome. J Mol Biol. 1982 Apr 25;156(4):683–717. [PubMed]
  • Clayton DA. Replication of animal mitochondrial DNA. Cell. 1982 Apr;28(4):693–705. [PubMed]
  • Chang DD, Clayton DA. Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA. Cell. 1984 Mar;36(3):635–643. [PubMed]
  • Bogenhagen DF, Applegate EF, Yoza BK. Identification of a promoter for transcription of the heavy strand of human mtDNA: in vitro transcription and deletion mutagenesis. Cell. 1984 Apr;36(4):1105–1113. [PubMed]
  • Clayton DA. Transcription of the mammalian mitochondrial genome. Annu Rev Biochem. 1984;53:573–594. [PubMed]
  • Maxam AM, Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. [PubMed]
  • Walberg MW, Clayton DA. In vitro transcription of human mitochondrial DNA. Identification of specific light strand transcripts from the displacement loop region. J Biol Chem. 1983 Jan 25;258(2):1268–1275. [PubMed]
  • Walberg MW, Clayton DA. Sequence and properties of the human KB cell and mouse L cell D-loop regions of mitochondrial DNA. Nucleic Acids Res. 1981 Oct 24;9(20):5411–5421. [PMC free article] [PubMed]
  • Ojala D, Crews S, Montoya J, Gelfand R, Attardi G. A small polyadenylated RNA (7 S RNA), containing a putative ribosome attachment site, maps near the origin of human mitochondrial DNA replication. J Mol Biol. 1981 Aug 5;150(2):303–314. [PubMed]
  • Wong JF, Ma DP, Wilson RK, Roe BA. DNA sequence of the Xenopus laevis mitochondrial heavy and light strand replication origins and flanking tRNA genes. Nucleic Acids Res. 1983 Jul 25;11(14):4977–4995. [PMC free article] [PubMed]
  • Chang DD, Clayton DA. Priming of human mitochondrial DNA replication occurs at the light-strand promoter. Proc Natl Acad Sci U S A. 1985 Jan;82(2):351–355. [PMC free article] [PubMed]
  • Chang DD, Hauswirth WW, Clayton DA. Replication priming and transcription initiate from precisely the same site in mouse mitochondrial DNA. EMBO J. 1985 Jun;4(6):1559–1567. [PMC free article] [PubMed]
  • Brown GG, DesRosiers LJ. Rat mitochondrial DNA polymorphism: sequence analysis of a hypervariable site for insertions/deletions. Nucleic Acids Res. 1983 Oct 11;11(19):6699–6708. [PMC free article] [PubMed]
  • Taira M, Yoshida E, Kobayashi M, Yaginuma K, Koike K. Tumor-associated mutations of rat mitochondrial transfer RNA genes. Nucleic Acids Res. 1983 Mar 25;11(6):1635–1643. [PMC free article] [PubMed]
  • Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Inouye M. Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday. Cold Spring Harb Symp Quant Biol. 1966;31:77–84. [PubMed]
  • Farabaugh PJ, Schmeissner U, Hofer M, Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847–857. [PubMed]
  • Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, et al. The structure and evolution of the human beta-globin gene family. Cell. 1980 Oct;21(3):653–668. [PubMed]
  • Jones CW, Kafatos FC. Accepted mutations in a gene family: evolutionary diversification of duplicated DNA. J Mol Evol. 1982;19(1):87–103. [PubMed]

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