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The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981. [ 2 ] A group led by Fred Sanger at the University of Cambridge had sequenced the mitochondrial genome of one woman of European descent [ 3 ] during the 1970s, determining it to have a length of 16,569 base pairs (0.0006% of the nuclear human genome ...
The 37 genes of the Cambridge Reference Sequence for human mitochondrial DNA and their locations [39] Gene Type Product Positions in the mitogenome Strand MT-ATP8: protein coding: ATP synthase, Fo subunit 8 (complex V) 08,366–08,572 (overlap with MT-ATP6) H MT-ATP6: protein coding ATP synthase, Fo subunit 6 (complex V)
Getting HVR1 and HVR2 DNA tests can help determine one's haplogroup. In the revised Cambridge Reference Sequence of the human mitogenome, the most variable sites of HVR1 are numbered 16024-16383 (this subsequence is called HVR-I), and the most variable sites of HVR2 are numbered 57-372 ( i.e., HVR-II) and 438-574 ( i.e., HVR-III).
The MT-ND4 gene is located in human mitochondrial DNA from base pair 10,760 to 12,137. [5] [11] The MT-ND4 gene produces a 52 kDa protein composed of 459 amino acids.[12] [13] MT-ND4 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, and MT-ND6.
The MT-ND4L gene is located in human mitochondrial DNA from base pair 10,469 to 10,765. [5] [9] The MT-ND4L gene produces an 11 kDa protein composed of 98 amino acids.[10] [11] MT-ND4L is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, and MT-ND6.
MT-ND2 is located in mitochondrial DNA from base pair 4,470 to 5,511. [5] The MT-ND2 gene produces a 39 kDa protein composed of 347 amino acids. [10] [11] MT-ND2 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, and MT-ND6.