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MtDNA control region

Mitochondrial DNA control region secondary structure A
The consensus secondary structure for all haplotypes of the mtDNA control region.
Identifiers
SymbolmtDNA ssA
RfamRF01853
Other data
RNA typeAntisense RNA
Domain(s)Mammalia
PDB structuresPDBe


Location of the control region (CR) in the human mitochondrial genome (grey box), with the three hypervariable regions (HV: green boxes).

The mtDNA control region is an area of the mitochondrial genome which is non-coding DNA. This region controls RNA and DNA synthesis.[1] It is the most polymorphic region of the human mtDNA genome,[2] with polymorphism concentrated in hypervariable regions. The average nucleotide diversity in these regions is 1.7%.[3] Despite this variability, an RNA transcript from this region has a conserved secondary structure (pictured) which has been found to be under selective pressure.[4]

The mtDNA control region contains the origin of replication of one strand, and the origin of transcription for both strands.[5] There is also an open reading frame thought to code for 7s ribosomal RNA in humans but not in mice or cows, where it has been deleted.[6]

  1. ^ Structure of the Mitochondrial Genome DNA Learning Center, Cold Spring Harbor Laboratory
  2. ^ Stoneking M, Hedgecock D, Higuchi RG, Vigilant L, Erlich HA (February 1991). "Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes". Am. J. Hum. Genet. 48 (2): 370–82. PMC 1683035. PMID 1990843.
  3. ^ Aquadro CF, Greenberg BD (February 1983). "Human Mitochondrial DNA Variation and Evolution: Analysis of Nucleotide Sequences from Seven Individuals". Genetics. 103 (2): 287–312. doi:10.1093/genetics/103.2.287. PMC 1219980. PMID 6299878. Retrieved 2010-07-29.
  4. ^ Pereira F, Soares P, Carneiro J, et al. (December 2008). "Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region". Mol. Biol. Evol. 25 (12): 2759–70. doi:10.1093/molbev/msn225. PMID 18845547.
  5. ^ Anderson S, Bankier AT, Barrell BG, et al. (April 1981). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–65. Bibcode:1981Natur.290..457A. doi:10.1038/290457a0. PMID 7219534. S2CID 4355527.
  6. ^ Ojala D, Montoya J, Attardi G (April 1981). "tRNA punctuation model of RNA processing in human mitochondria". Nature. 290 (5806): 470–4. Bibcode:1981Natur.290..470O. doi:10.1038/290470a0. PMID 7219536. S2CID 4323371.

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