The Cambridge Reference Sequence (CRS) for

human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

mitochondrial DNA Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial D ...

was first announced in 1981. A group led by

Fred Sanger Frederick Sanger (; 13 August 1918 – 19 November 2013) was an English biochemist who received the Nobel Prize in Chemistry twice. He won the 1958 Chemistry Prize for determining the amino acid sequence of insulin and numerous other ...

at the

University of Cambridge , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

had sequenced the mitochondrial genome of one woman of European descent during the 1970s, determining it to have a length of 16,569 base pairs (0.0006% of the nuclear human genome) containing some 37 genes and published this sequence in 1981. When other researchers repeated the sequencing, some striking discrepancies were noted. The original published sequence included eleven errors, including one extra base pair in position 3107, and incorrect assignments of single base pairs. Some of these were the result of contamination with bovine and

HeLa HeLa (; also Hela or hela) is an immortalized cell line used in scientific research. It is the oldest and most commonly used human cell line. The line is derived from cervical cancer cells taken on February 8, 1951, named after Henrietta La ...

specimens. The corrected revised CRS was published by Andrews et al. in 1999. (The original nucleotide numbering was retained to avoid confusion.) The reference sequence belongs to European haplogroup H2a2a1. The revised CRS is designated as rCRS. It is deposited in the GenBank NCBI database under accession number NC_012920.''Homo sapiens'' mitochondrion, complete genome
"Revised Cambridge Reference Sequence (rCRS): accession NC_012920"
''

National Center for Biotechnology Information The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The ...

''. Retrieved on 30 January 2016. When mitochondrial DNA sequencing is used for genealogical purposes, the results are often reported as differences from the revised CRS. The CRS is a reference sequence rather than a record of the earliest human mtDNA. A difference between a tested sample and the CRS may have arisen in the lineage of the CRS or in the lineage of the tested sample. An alternative African (Yoruba) reference sequence has also been used sometimes instead of the Cambridge. It has a different numbering system with a length of 16,571 base pairs and represents the mitochondrial genome of one African individual. Other alternative reference sequences that have also sometimes been used include the African (Uganda), Swedish and Japanese sequences. In 2012, it was proposed that the revised Cambridge Reference Sequence (rCRS), should be replaced by a new Reconstructed Sapiens Reference Sequence (RSRS). The RSRS keeps the same numbering system as the CRS, but represents the ancestral genome of

Mitochondrial Eve In human genetics, the Mitochondrial Eve (also ''mt-Eve, mt-MRCA'') is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an ...

, from which all currently known human mitochondria descend. The RSRS should be more useful for comparing the changes in different haplogroups although this has been debated.{{cite journal , vauthors=((Bandelt H-J)), Kloss-Brandstätter A, Richards MB, ((Yao Y-G)), Logan I , title=The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies, journal=Journal of Human Genetics, date=5 December 2014, volume=59, issue=2, pages=66–67, doi=10.1038/jhg.2013.120, pmid=24304692, s2cid=21995571, doi-access=free

Family Tree DNA FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, YDNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database ...

reports results for mtDNA for both rCRS and RSRS.

References

External links

GenBank record of the revised Cambridge Reference Sequence (rCRS)

Genetic genealogy Genetics in the United Kingdom category:History of genetics Human mitochondrial genetics Human mtDNA haplogroups Science and technology in Cambridgeshire