Non-coding region of the mitochondrial DNA
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]
- ^ Structure of the Mitochondrial Genome DNA Learning Center, Cold Spring Harbor Laboratory
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.