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Human mtDNA sequencing: CRS vs. rSRS. Print E-mail

The reference sequence in human mtDNA sequencing : CRS vs RSRS

  An excerpt from “Mitochondria Interest Group“ ( ) mail list.[1].
June 2013

Question by Dr. Larry Singh[2]:

  “I would like to get your opinions on the appropriate reference sequence to perform Mitochondrial sequence to. I realize that most research in the past has chosen the rCRS (revised Cambridge Reference Sequence). However, I have read Behar et al's paper from (2012) describing the Revised Sapiens Reference Sequence (RSRS), and my first inclination is to use the RSRS sequence in lieu of the rCRS sequence. Would anyone care to share their thoughts on which may be best for general purpose alignments? Is the RSRS eventually going to replace the rCRS?”

Answer by Prof. Vincent Procaccio[3]:

"A mitochondrial meeting was held in June 2012 in Paris, satellite meeting of the Human Variome Project. This meeting aimed to discuss a key issue about mitochondrial DNA database curation. But the choice of the reference sequence was also discussed in light of this paper from Behar et al. Indeed, as you mentioned a paper was recently published by Doron Behar et al, Am J Hum Genet (2012) 90(4):675-684 about the"Copernican" reassessment of the human mitochondrial DNA tree from its root. During our meeting, this subject generated an interesting debate about the reference sequence we should use. Please see both arguments (Appendix attached to the mail with Pros and Cons) from Mannis Van Oven and Hans-Jürgen Bandelt, special thanks to them for summarizing this interactive discussion. A report about the meeting including the debate about CRS vs Reconstructed Sapiens reference sequence was then sent to many members of our mitochondrial community and we are happy to share this document with you and other mitochondrial members. It was recognized that such a change would be substantial having the potential to cause much confusion in the medical genetics and forensic communities; as such we felt that a review of the arguments was both timely and important. The consensus decision of the meeting was that the medical community should retain use of the rCRS, however, additional community input is welcomed.”

[1] Lightly edited by Dr. Anatoly Starkov.
[2] Dr. Larry N. Singh, Ph.D.
Research Fellow
Genetic Diseases Research Branch
National Human Genome Research Institute
[3] Prof, Vincent Procaccio
Biochemistry and Genetics Department
National Center for Neurodegenerative and Mitochondrial diseases
CHU Angers, France


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