Abstract
Since the determination in 1981 of the sequence of the human mitochondrial DNA (mtDNA) genome, the Cambridge Reference Sequence (CRS), has been used as the reference sequence to annotate mtDNA in molecular anthropology, forensic science and medical genetics. The CRS was eventually upgraded to the revised version (rCRS) in 1999. This reference sequence is a convenient device for recording mtDNA variation, although it has often been misunderstood as a wild-type (WT) or consensus sequence by medical geneticists. Recently, there has been a proposal to replace the rCRS with the so-called Reconstructed Sapiens Reference Sequence (RSRS). Even if it had been estimated accurately, the RSRS would be a cumbersome substitute for the rCRS, as the new proposal fuses—and thus confuses—the two distinct concepts of ancestral lineage and reference point for human mtDNA. Instead, we prefer to maintain the rCRS and to report mtDNA profiles by employing the hitherto predominant circumfix style. Tree diagrams could display mutations by using either the profile notation (in conventional short forms where appropriate) or in a root-upwards way with two suffixes indicating ancestral and derived nucleotides. This would guard against misunderstandings about reporting mtDNA variation. It is therefore neither necessary nor sensible to change the present reference sequence, the rCRS, in any way. The proposed switch to RSRS would inevitably lead to notational chaos, mistakes and misinterpretations.
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Acknowledgements
We thank Antonio Salas and Walther Parson for their help and support. Y-GY was supported by the National Science Foundation of China (30925021), Top Talents Program of Yunnan Province (2009CI119) and the Chinese Academy of Sciences. We are grateful to Marie Lott and Douglas Wallace for providing information about the case of the ‘Yoruban mtDNA reference’.
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Bandelt, HJ., Kloss-Brandstätter, A., Richards, M. et al. The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies. J Hum Genet 59, 66–77 (2014). https://doi.org/10.1038/jhg.2013.120
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DOI: https://doi.org/10.1038/jhg.2013.120
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