MtDNA

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Mitochondrion DNA, a circular DNA encoding some of the mitochondrial proteins and RNA, inherited through the maternal line.
Human mitochrondial DNA
More details are available by following links related to mitochondrial disorders. There is a guanine-rich heavy (H) strand of the mtDNA and a (L) light strand with respective replication origin sites but RNA synthesis is bidirectional. The reference mtDNA (NC_012920) for man is 16569 nucleotides that code for 13 protein genes, 2 rRNA genes, and 22 tRNA genes. There are mechanisms that limit L-strand synthesis and maintains a high ratio of rRNA to mRNA transcripts from the H-strand. Human mtDNA shares with all mammalian mtDNA a unique genetic code where UGA = tryptophan, AGA and AGG = stop, and AUA = methionine. It evolves up to 17 times faster than nuclear DNA gene sequences and so there are multiple restriction fragment length polymorphisms.
Human miDNA genes
Gene Position (np) Comment
MT-HV2 57-372 Hypervariable segment 2
MT-OHR 110-441 H-strand replication origin positions are at np 110, 147, 169, 191, 219, 310, 441, L-strand promoter positions are at np 407, 392-435
MT-CSB1 213-235 Conserved sequence block 1
MT-TFX 233-260 mtTF1 (mitochondrial transcription factor) binding site
MT-TFY 276-303 mtTF1 binding site
MT-CSB2 299-315 Conserved sequence block 2
MT-HPR 317-321 replication primer
MT-CSB3 346-363 Conserved sequence block 3
MT-4H 371-379 mt4 H-strand control element
MT-3H 384-391 mt3 H-strand control element
MT-LSP 392-445 L-strand promoter
MT-TFL 418-445 mtTF1 binding site
MT-HV3 438-574 Hypervariable segment 3
MT-TFH 523-550 mtTF1 binding site
MT-HSP1 545-567 PH1, major H-strand promoter, with H-strand promoter positions at np 559-561.
MT-TF 577-647 tRNA phenylanine
MT-HSP2 645-645 PH2, minor H-strand promoter
MT-RNR1 648-1601 12S ribosomal RNA
MT-TV 1602-1670 tRNA valine
MT-RNR2 1671-3229 16S ribosomal RNA
MT-RNR3 3206-3229 5S-like sequence
MT-TER 3229-3256 Transcription terminator
MT-TL1 3230-3304 tRNA leucine 1
MT-NC1 3305-3306 non-coding
MT-ND1 3307-4262 NADH dehydrogenase subunit 1. It is possible that this gene also codes in man for a polymorphic cell surface antigen on analogy with other mammals. Mutations are associated with gestational diabetes and cause Leber hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), maternally inherited diabetes and deafness, pseudoexfoliation glaucoma, adult-onset dystonia
MT-TI 4263-4331 tRNA isoleucine
MT-TQ 4329-4400 tRNA glutamine
MT-NC2 4401-4401 non-coding
MT-TM 4402-4469 tRNA methionine
MT-ND2 4470-5511 NADH dehydrogenase subunit 2, mutations associated with Parkinsons disease, Alzheimer's disease, antiretroviral therapy-associated peripheral neuropathy and schizophrenia as well as causing Leber hereditary optic neuropathy
MT-TW 5512-5579 tRNA tryptophan
MT-NC3 5580-5586 non-coding
MT-TA 5587-5655 tRNA alanine
MT-NC4 5656-5656 non-coding nucleotides
MT-TN 5657-5729 tRNA asparagine
MT-OLR 5721-5798(5799) OL, L-strand origin, with L-strand replication origin positions at np 5721-5781, 5761, 5799.
MT-TC 5761-5826 tRNA cysteine
MT-TY 5826-5891 tRNA tyrosine
MT-NC5 5892-5903 non-coding
MT-CO1 5904-7445 Cytochrome c oxidase subunit I, mutations cause Leber hereditary optic neuropathy, sensorineural hearing loss , maternally inherited aminoglycoside-induced deafness and are associated with prostate cancer, Alzheimer's disease and Parkinsons disease
MT-TS1 7446-7514 tRNA serine 1
MT-NC6 7515-7517 non-coding
MT-TD 7518-7585 tRNA aspartic acid
MT-CO2 7586-8269 COII, cytochrome c oxidase subunit II, mutations cause mitochondrial myopathy, Leber hereditary optic neuropathy, susceptibility to Parkinsons disease, mitochondrial encephalomyopathy, [progressive encephalomyopathy]], multisystem mitochondrial disorder, pseudoexfoliation glaucoma, sensorineural hearing loss , maternally inherited aminoglycoside-induced deafness
MT-NC7 8270-8294 non-coding
MT-TK 8295-8364 tRNA lysine
MT-NC8 8365-8365 non-coding
MT-ATP8 8366-8572 ATPase8, ATP synthase F0 subunit 8, mutations cause maternally inherited diabetes and deafness
MT-ATP6 8527-9207 ATPase6, ATP synthase F0 subunit 6, mutations cause neurogenic muscle weakness, ataxia, and retinitis pigmentosa/Leigh disease/MILS, Leber hereditary optic neuropathy, Leber's hereditary optic neuropathy and dystonia, familial bilateral striatal necrosis
MT-CO3 9207-9990 COIII, Cytochrome c oxidase subunit III, mutations cause Leber hereditary optic neuropathy, [Leigh syndrome]], sporadic bilateral optic neuropathy, progressive encephalopathy and are associated with Alzheimer's disease
MT-TG 9991-10058 tRNA glycine references
MT-ND3 10059-10404 NADH dehydrogenase subunit 3, mutations cause Leigh disease, Leigh syndome, Leber hereditary optic neuropathy and are associated risk factor for invasive breast cancer or protection from Parkinsons disease and changed lithium response
MT-TR 10405-10469 tRNA arginine
MT-ND4L 10470-10766 NADH dehydrogenase subunit 4L, mutations cause Leber hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), chronic progressive external ophthalmoplegia, progressive dystonia, oligoasthenoteratozoospermia and associated with diabetes mellitus and schizophrenia
MT-ND4 10760-12137 NADH dehydrogenase subunit 4
MT-TH 12138-12206 tRNA histidine
MT-TS2 12207-12265 tRNA serine2
MT-TL2 12266-12336 tRNA leucine2
MT-ND5 12337-14148 NADH dehydrogenase subunit 5, mutations cause Leber hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), Leigh disease
MT-ND6 14149-14673 NADH dehydrogenase subunit 6, mutations cause Leber hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), Leber's hereditary optic neuropathy and dystonia, Leber hereditary optic neuropathy , Leigh disease
MT-TE 14674-14742 tRNA glutamic acid
MT-NC9 14743-14746 non-coding
MT-CYB 14747-15887 Cytb, cytochrome b, mutations cause Leber hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), septo-optic dysplasia, various exercise intolerance syndromes
MT-TT 15888-15953 tRNA threonine
MT-ATT 15925-499 membrane attachment site
MT-NC10 15954-15955 non-coding
MT-TP 15956-16023 tRNA proline
MT-DLOOP 16024-576 CR / D-Loop, control region, including displacement loop which is non-coding. It forms a triple-stranded region generated by the synthesis of a short piece of H-strand DNA, the 7S DNA which then interacts. Mutations are associated with longevity and bipolar disorder
MT-HV1 16024-16383 Hypervariable segment 1
MT-7SDNA 16106-191 7S DNA
MT-TAS 16157-16172 TAS, termination-associated sequence
MT-5 16194-16208 mt5 control element
MT-3L 16499-16506 mt3L, L-strand control element
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