, inherited through the maternal line.
. 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
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
.
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
|
