By Jacques P. BEAUGRAND, Ph.D.
The rCRS signature encountered in uterine descendants of Catherine PILLARD is as follows:
A73G A235G A263G 315.1C C522- A523- C544T A663G A750G A1438G A1736G A2706G T4248C A4769G A4824G T5393C C7028T C7468T C8794T A8860G G9948A C10094T G11719A C12705T C14766T A15326G C16223T A16227c C16290T T16311C G16319A T16519C
The mitochondrial genome has been divided into three regions which can be tested independently of each other or in combination:
HVR1: The hypervariable region # 1 which goes from the base address 16001 to the 16569th.
HVR2: The hypervariable region # 2 which goes from base address 1 to the 570th.
CR: The encoding region which goes from base address 571 to 16000th.
The above signature can thus be broken down as follows:
HVR1 hypervariable region (16001 to 16559) contains the following rCRS variations:
C16223T A16227c C16290T T16311C G16319A T16519C
HVR2 hypervariable region: (1 to 570) contains the following rCRS variations:
A73G A235G A263G 315.1C C522- A523- C544T
Coding region: (571 to 16000): A663G A750G A1438G A1736G A2706G T4248C A4769G A4824G T5393C C7028T C7468T C8794T A8860G G9948A C10094T G11719A C12705T C14766T A15326G
The ISOGG asks to hide the coding region from the public. This region can contain mutations that could reveal health conditions and revealing them is considered unethical.
Explanations on the notation used above:
I am using the explicit notation of the rCRS referent (not the RSRS notation). FTDNA uses the explicit notation for RSRS mode only, but not for the rCRS mode.
Each variation from the rCRS is listed as a number surrounded by two letters (e.g., A73G), except for INDELs where the preceding letter is absent from the notation. The number corresponds to a given locus, or base address, on the DNA filament of the mitochondria. The mitochondria of the woman who provided mtDNA to establish the reference system called the Cambridge Reference Sequence (rCRS) comprised 16,569 base pairs.
The letter preceding the locus address is the value taken by the rCRS referent. In the case of the A73G mutation, the value of the rCRS referent at locus 73 is an A, first letter of the base Adenine. The letter following the locus address 73 is the value found in the person being tested. Thus, at locus 73, the rCRS has a base A (Adenine) while the descendants of Catherine PILLARD have a base G (Guanine). There was therefore a base substitution at locus 73. This base substitution from A to G constitutes a variation from the rCRS reference. It is considered the equivalent of a mutation (but it not necessarily a mutation). And so on for each of the variations from the rCRS noted in a test result which comprises more or less 16,568 base pairs. Other variations like INDELs use another notation. For instance, Catherine PILLARD’s mtDNA includes an insertion of a Cytosine base immediately after locus 315, which is noted 315.1C. It comprises also two deletions, one at locus 522 and another at locus 523, which are noted C522- A523-. Catherine PILLARD’s mtDNA thus comprised 16,568 loci.
Catherine PILLARD’s signature was inferred through triangulation from some of her uterine descendants and registered to the online Catalog of ancestral signatures at http://www.francogene.com/triangulation/TRI0006.php
The inferential operation of Triangulation is explained in the Wiki of the ISOGG at https://isogg.org/wiki/Triangulation
The base substitutions in mtDNA most often occur between complementary bases A-G (the purine bases) and C-T (the pyrimidine bases). We speak of transition substitution when there is substitution of a purine base (A-G) for another purine base or of a pyrimidine base (C-T) for another pyrimidine base. On the contrary, a substitution by transversion is a mutation involving the replacement of a purine base (C-T) by a pyrimidine base (A-G) or the converse, from a pyrimidine base (A-G) by a purine base (C-T). Transversion occurs very rarely. By chance, the mtDNA of the uterine descendants of Catherine PILLARD show the A16227c transversion.
This transversion was found in all uterine descendants of Catherine PILLARD, indicating that it was present in the signature of their matriarch Catherine PILLARD.
Catherine PILLARD’s signature therefore contained a very rare variation as transversion, A16227c.
When the first cases of Catherine PILLARD’s uterine descendants were tested (between 2004 and 2009), the classification of mitochondrial DNA known as PhyloTree.org did not yet comprise haplogroup A10 to which Catherine PILLARD’s haplotype belongs today. Haplogroup A10 was only created in 2009 when the PhyloTree.org cladistic tree was revised with build 7.
All we knew at the time was that Catherine PILLARD’s signature belonged to major haplogroup A because the following variations were present in her haplotype and allowed it to enter major haplogroup A:
235 663 1736 4248 4824 8794 16290 16319
Here is the signature of Catherine PILLARD with criteria variations in bold and italic that were satisfied in order to enter haplogroup A:
A73G A235G A263G 315.1C C522- A523- C544T A663G A750G A1438G A1736G A2706G T4248C A4769G A4824G T5393C C7028T C7468T C8794T A8860G G9948A C10094T G11719A C12705T C14766T A15326G C16223T A16227c C16290T T16311C G16319A T16519C
In 2005, the rCRS variations required to enter Amerindian haplogroup A2 were already known. However, the signature of Catherine PILLARD did not show these required variations and could thus not be classified as part of subclade A2.
Here are the rCRS variations required to enter haplogroup A2 (according to PhyloTree.org):
146 153 8027 12007 16111 16362
Not only the haplotype of Catherine PILLARD did not show any of the mutations specific to A2 but it did not match any other haplogroup already represented in the PhyloTree, downstream or not of major haplogroup A.
All Amerindian haplotypes of major haplogroup A belong to its subclade A2 or downstream, i.e. A2a, A2f, &c. Refer to the Amerindian mtDNA project at FTDNA https://bit.ly/2Qst3kh
Moreover, none of the Amerindian signatures already collected showed transversion A16227c.
Faced with the impossibility to tell precisely to which haplogroup belonged the results of their clients who were descendants of Catherine PILLARD, testing companies FTDNA and 23andMe suggested (23andMe still does) them that their mitochondrial DNA haplotype belonged to haplogroup A and had arrived in the Americas via Beringia, just like the Amerindians. Clients were thus induced in error.
In June 2009, in its Build 7 (2009-nov-10), PhyloTree.org opened an A10 subclade to its tree, based on two different haplotypes which shared A16227c. The first haplotype had been registered at Genbank the same year by MALYARCHUK et al. (2010). It had been tentatively named A8b by the researchers. The second signature was that of a descendant of Catherine PILLARD tested by FTDNA which was brought to the knowledge of the authors of PhyloTree.org and registered at Genbank the next year. Since these two haplotypes showed transversion A16227c, shared most of other variations and were from unrelated individuals, the authors of PhyloTree.org judged appropriate to open a new subclade for them and named it A10.
The accession numbers of these two haplotypes at Genbank are as follows:
https://www.ncbi.nlm.nih.gov/nuccore/GU122995
https://www.ncbi.nlm.nih.gov/nuccore/HM569228
These two signatures, HM569228 and GU122995, show a nominal correlation of 89%. It means that 89% of variations in one are also present in the other. Moreover, when volatile variations 16519C and 64T are not considered, these two signatures correlate at 98%. They are so similar that they might share a common ancestor who may have lived quite recently.
Since then, several cases of A10 haplotypes similar or identical to that of Catherine PILLARD’s descendants were reported in the scientific literature. Some of them had even been published before some romantic genealogists proposed that Catherine PILLARDS’s haplotype was Amerindian.
Here is the list in their order of publication:
1 Mansi individual found by DERBENEVA et al. 2002;
1 chinese Han-Neimeng (Chifeng) individual found by WEN et al. 2004;
2 Nogay individuals reported by BERMISHEVA et al. 2004;
1 German individual reported by LUTZ-BONENGEL et al. 2008;
2 Tatar (Kutarbitka) individuals reported by NAUMOVA et al. 2009;
1 Austrian individual reported by MUELLER et al. 2009;
1 Tatar individual reported by MALYARCHUK et al. 2010;
1 Afghani Hazara individual reported DI CRISTOFARO et al. 2013;
1 Italian (Alpine region) individual reported by COIA et al. 2012;
1 Russian individual part of the Jewish DNA project at FTDNA kit #218426
4 Russian individuals (cases Od7 Od11, Krb10, Tk10) with perfect match on HVR1 (C16223T A16227c C16290T T16311C G16319A with CPILLARD) reported by PILIPENKO et al. 2015;
1 Chinese individual, ancient DNA case SSG_M15, from Songshugou (SSG) Tacheng District. China, Date: 4237-4087 BP, Group NSSG_EMBA reported by WANG et al. 2021.
All the above cases showed the rCRS mutations leading to what is known today as haplogroup A10, to which haplotype of Catherine PILLARD also belongs.
It is worthy to note that all these cases were found in Eurasia, while no other case of A10 was discovered over that same period in North, Central and South America, other than that of from a uterine descendant of Catherine PILLARD.
Research on Amerindian DNA continues. No case is ever reported of A10 which could be Amerindian, even only of culture, and not necessarily of founding origin. Indeed, nothing excludes a Native American being discovered A10, the consequence of Eurasian introgression, as it is the case for several other haplogroups, including my own, which is H7.
The above evidence, combined with the face value of BMS records, should convince us that Catherine PILLARD was not an Amerindian disguised into a Fille du Roi, and that it is highly improbable that the mitochondrial DNA of uterine descendants of Catherine PILLARD was of founding Native American origin.
In the light of the ancient DNA which they analyzed, PILIPENKO et al. (2015) suggest that the mtDNA haplogroup A10 is an autochthonous component of the gene pool of West Siberian indigenous populations, and that this component underwent a long evolution in West Siberia before the arrival in the region of genetically contrasting western Eurasian and eastern Eurasian groups. The overall distribution of the A10 haplogroup in modern populations of Eurasia corresponds with its origin and/or evolution in West Siberia. A10 lineages are present in gene pools of modern Ugric, Samoyed and Turkic-speaking groups from the central region of northern Eurasia (see their Figure 3). The south of West Siberia is located in the center of the whole A10 area, and it is also the place where the ancient ancestors of some of these ethnic groups could interact (in particular, southern proto-Ugric groups and ancient Turkic-speaking populations interacted in the West Siberian forest-steppe zone).
I took the initiative to update their Figure 3 with additional reports of A10 cases in the world population.
As PILIPENKO et al. (2015) formulate it in their conclusion:
“Therefore, haplogroup A10 has all the features expected for the indigenous component of the mtDNA gene pool of the aboriginal populations of West Siberia. It is highly probable that West Siberia is the place of origin of A10 or, at any rate, the place of its long-term evolution and diversification; thus, the mtDNA haplogroup A10 could be one of the genetic markers of the ancient autochthonous population that has contributed to the early stages of specificity formation of West Siberian indigenous populations, independently of the subsequent influence of genetically contrasting groups.”
The regions north of the Black Sea and the Caspian Sea form the Pontic Steppe through which migrations to Europe were carried out during the settlement of Europe. In addition, the Tatars invaded Europe on several occasions and invasions and wars were carried out with the support of women. It is also possible that the Vikings who colonized these areas of Russia vicariously spread A10 in Western Europe during their establishment in France or even Italy. No wonder this A10 haplotype was found in the French population at the time of the settlement of New France.
When the ban on taking DNA tests will be lifted in France, it is to be expected that new cases of A10 will emerge, especially in the Larochelle region.
REFERENCES
BERMISHOVA et al. 2004. Phylogeographic Analysis of Mitochondrial DNA in the Nogays: A Strong Mixture of Maternal Lineages from Eastern and Western Eurasia. Mol Biol 38, 516–523. https://doi.org/10.1023/B:MBIL.0000037003.28999.45
COIA et al. 2012. Evidence of high genetic variation among linguistically diverse populations on a micro-geographic scale: a case study of the Italian Alps. Journal of Human Genetics (2012) 57, 254–260. https://bit.ly/2QC5SUn
DERBENEVA et al. 2002 Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis. Am. J. Hum. Genet. 70:1009–1014. http://dx.doi.org/10.1086/339524
Di CRISTOFARO et al. 2013. Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge. PLoS ONE 8(10): e76748. https://doi.org/10.1371/journal.pone.0076748
FEDEROVA et al. 2013. Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia. BMC Evolutionary Biology, (2013) 13, 127- (1-18). http://www.biomedcentral.com/1471-2148/13/127
LUTZ-BONENGEL et al. 2008. Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic. Int J Legal Med 122, 189–197 (2008). https://doi.org/10.1007/s00414-007-0190-6
MALYARCHUK et al. 2010. Mitogenomic diversity in Tatars from the Volga-Ural region of Russia. J. Mol. Biol. Evol., 27, 2220-2226. https://bit.ly/3xsPCWv
MUELLER et al. 2009. Mitochondrial Haplogroups and Control Region Polymorphisms Are Not Associated with Prostate Cancer in Middle European Caucasians. PLoS ONE 4(7): e6370. https://doi.org/10.1371/journal.pone.0006370
NAUMOVA et al. 2009. Mitochondrial DNA variability in populations and ethnic groups of Tatars of the Tobol-Irtysh basin. Russ J Genet 45, 1107–1116 (2009). https://doi.org/10.1134/S1022795409090129
PILIPENKO et al. 2015. MtDNA Haplogroup A10 Lineages in Bronze Age Samples Suggest That Ancient Autochthonous Human Groups Contributed to the Specificity of the Indigenous West Siberian Population. PLoS ONE 10(5): e0127182. https://doi.org/10.1371/journal.pone.0127182
TAMM et al. 2007. Beringian standstill and spread of Native American founders. PLoS ONE 2(9): E829. pmid:17786201 https://bit.ly/3t07HaX
VYACHESLAV et al. 2012. Human migrations in the southern region of the West Siberian Plain during the Bronze Age: Archaeological, palaeogenetic and anthropological data. In: Kaiser, Elke / Burger, Joachim / Schier, Wolfram (2012) Population Dynamics in Prehistory and Early History. New Approaches Using Stable Isotopes and Genetics. https://bit.ly/3nlhF5p
WANG et al. 2021. Ancient Xinjiang mitogenomes reveal intense admixture with high genetic diversity. Science Advances 31 Mar 2021: Vol. 7, no. 14, eabd6690 DOI: 10.1126/sciadv.abd6690 https://bit.ly/3eza7bn
WEN et al. 2004. Genetic evidence supports demic diffusion of Han culture. Nature 431, 302–305. https://doi.org/10.1038/nature02878
pjb 28th of April 2021
Beaugrand.Jacques@UQAM.ca
http://cerbere.ca
