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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 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 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)
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.
The 3Gb-TEST consortium has identified the analysis and interpretation of sequence data as the most complicated step in the diagnostic process. [101] At the Consortium meeting in Athens in September 2014, the Consortium coined the word genotranslation for this crucial step. This step leads to a so-called genoreport. Guidelines are needed to ...
It is not normal for test results to give a base-by-base list of results. Instead, results are normally compared to the Cambridge Reference Sequence (CRS), which is the mitochondria of a European who was the first person to have their mtDNA published in 1981 (and revised in 1999). [30]