In Quebec, gravestones did not come into common use until the second half of the 19th century, so historical cemeteries contain many unmarked graves. Inspired by colleagues at Barcelona’s Pompeu Fabra University, a team of researchers in genetics, archaeology and demography from three Quebec universities (Université de Montréal, Université du Québec à Chicoutimi and Université du Québec à Trois-Rivières) conducted a study in which they combined genealogical information from BALSAC (a Quebec database that is the only one of its kind in the world) with genetic information from more than 960 modern Quebecers in order to access the genetic profile of Quebec’s historical population. The results, published in the American Journal of Physical Anthropology, suggest the capabilities that this method may offer in the near future.

The BALSAC database contains the genealogical relationships linking five million individuals, the vast majority of whom married in Quebec, over the past four centuries. Work on developing this database began in 1972 at Université du Québec à Chicoutimi under the direction of historian Gérard Bouchard.

The first author of this study is Tommy Harding, a postdoctoral researcher at Université de Montréal who specializes in DNA sequencing. BALSAC, he said, “is a fabulous database for researchers, because both the quantity and the quality of the data that it contains are truly exceptional. The parish records meticulously kept by Catholic priests have been very well preserved so that today, thanks to advances in technology, it is possible to use this data to identify the bones from unmarked graves.”

Using the Y chromosome and mitochondrial DNA

This study was directed by Damian Labuda, an expert in genetic structure and diversity who is a professor in the Department of Pediatrics at Université de Montréal and its affiliated Sainte-Justine Hospital Research Centre. “Genetics,” he said, “has of course been used many times to identify the remains of historical figures, such as the members of the Romanov Russian imperial family who were killed by the Bolsheviks and buried in a common grave, or the English king Richard III, who died in 1483 and whose remains were discovered in 2012.

“What is different about our research team’s genetic method,” Dr. Labuda added, “is that we use the information contained in two genetic markers that are transmitted to children by only one parent: the Y chromosome, which is passed from fathers to their sons, and mitochondrial DNA, which is passed from mothers both to their daughters and to their sons. These two genetic molecules are inherited with few modifications (that is, mutations), so that individuals today have the same, or almost the same, DNA sequence as their ancestors who lived more than 10 generations earlier.”

Making old bones tell their tales

Added Harding: “To empirically test our method’s identification potential, we selected six unidentified male skeletons that had been exhumed over the years at four historical cemeteries in Quebec. Two of these cemeteries were in Montreal (Notre Dame cemetery, active from 1691 to 1791, and Saint Antoine cemetery, active from 1799 to 1855). The two others were those of the former municipality of Pointe-aux-Trembles (active from 1709 to 1843) and the city of Sainte-Marie-de-Beauce (active from 1748 to 1878). We sent these bones to the Genomics Core Facility, a laboratory at Pompeu Fabra University in Barcelona that specializes in analyzing historical DNA. This laboratory extracted DNA from these remains and analyzed them to reveal their mitochondrial and Y chromosome genetic markers.”

The Quebec researchers then compared the genetic markers from these historical remains with the same genetic markers from over 960 modern Quebecers who had volunteered to be genotyped in an earlier research project and whose genealogy had been established using population data from the BALSAC database. Through this process, the researchers were able to deduce the genetic profiles of approximately 1.7 million individuals from historical Quebec.

“However,” Dr. Harding acknowledged, “only 12 per cent of the men married before 1850 who are included in the BALSAC database shared a mitochondrial profile and a Y chromosome with the 960 Quebecers from the modern sample. Because of this limited genetic coverage, none of the men among these 12 per cent had the same genetic profile as any of the unidentified remains.”

Some remains still cannot be identified

Harding continued: “Presumably, the individuals whose remains we analyzed were not related maternally or paternally to any of the individuals in the modern sample. But if we could increase the number of genotyped modern individuals considerably – by hundreds of thousands – then we could identify up to 87 per cent of the men married before 1850.”

Harding sees two possible sources from which more genetic profiles of modern Quebecers could be obtained to compare with the BALSAC database. “Thousands of genetic profiles of Quebecers have already been gathered by certain population genetics research platforms as well as by “acts of citizen participation”, meaning that many people who have their genetic profile drawn up for personal reasons agree to allow it to be used for research purposes.”

Other uses of this method

He added: “In addition to being used to identify historical remains here in Quebec so that they can be laid to rest again in marked graves, our method might be used to identify the remains of Canadian soldiers who died and were buried overseas during the two world wars.”

He also believes that this method has potential applications in public health. “Studying the genetic baggage of the founders of the French-Canadian population can help us not only to calibrate other methods, such as the reconstruction of historical genomes using bioinformatic models, but also to advance knowledge of the epidemiology of genetic diseases by identifying the historical sources of their genetic determinants, thus opening the door to easier screening for some of these diseases.”

About this study

Reference: “Historical human remains identification through maternal and paternal genetic signatures in a founder population with extensive genealogical record” by Tommy Harding, Emmanuel Milot, Claudia Moreau, Jean‐Francois Lefebvre, Jean‐Sébastien Bournival,Hélène Vézina, Catherine Laprise, Carles Lalueza‐Fox and Roger Anglada, 16 February 2020, American Journal of Physical Anthropology.
DOI: 10.1002/ajpa.24024

Important: The six individuals whose bones were analyzed by the authors were not exhumed for the purposes of this study. They were exhumed inadvertently in a variety of situations, mainly in the course of major construction and restoration projects.

This study was funded by the Fonds de recherche du Québec — Santé (through its applied genetic medicine research network), the Natural Sciences and Engineering Research Council of Canada, the Fonds de recherche du Québec — Société et Culture and the European Regional Development Fund — Ministerio de Economia y Competitividad (Spain).

Enlarge / Maat Mons, one of the volcanoes of Venus, in a model created with radar data from the Magellan mission. (credit: NASA/JPL)

NASA scientists must not have had an easy decision this winter as they considered more than a dozen intriguing concepts for Discovery-class missions to explore the Solar System.

But decide they did, selecting four missions for additional study and refinement on Thursday. NASA said the proposals were chosen based on their potential science value and feasibility of development plans, through a competitive peer-review process.

Each of the mission teams will now receive $3 million from NASA to finalize its proposals over a nine-month period. After this, NASA will likely select two missions to proceed into development and toward launch later in the 2020s. Discovery missions have a cost cap of $450 million.

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  It exists, and Lego has already built it: the International Space Station kit arrives February 1. [credit: @LEGO on Instagram ]

Perhaps reinforcing the idea that waiting until the last minute can be good for gift-seekers, Lego today announced it has produced an International Space Station-inspired set that will be available on February 1 for $69.99. (Outside of an Ars subscription, this is the perfect Valentine's Day gift for any Arsian in your life.)

Like prior Lego space releases such as the Saturn V, this ISS model looks robust. The set contains 850-plus pieces and when built stands over 7-inches (20cm) high, 12-inches (31cm) long, and 19-inches (49cm) wide. According to the official company press release, loving details include a posable Canadarm2 and two rotating joints that coincide with eight adjustable solar panels. The set also comes with some delightful extras, such as a pair of astronaut minifigs, a brick-built mini space shuttle, and a 148-page booklet stuffed with info on the real ISS.

Besides being a drool-worthy addition to any brickhead's collection, the Lego ISS doubles as a celebration of the Lego Ideas initiative, which turns 10 this year. Ideas is a platform where users can submit proposals for future sets, and those submissions that garner enough support through votes can ultimately end up in production. (See that awesome Women of NASA set from 2017 as just one example.) Lego fan Christoph Ruge submitted his ISS proposal more than three years ago, but it resurfaced thanks to Lego revisiting popular ideas that hadn't been produced as a way of celebrating Ideas turning 10. Ruge's Ideas page is a nice collection of other space proposals, by the way: can we get a Baikonur or Hubble set sometime, too?

Enlarge / Anti-vaccine protesters outside the NJ State House. (credit: Twitter | NJ.com politics)

Amid raucous protest from hundreds of anti-vaccination advocates, state lawmakers in New Jersey have abandoned legislation to ban vaccination exemptions based on religious beliefs.

The bill, S2173, collapsed in the state Senate Monday as lawmakers realized it was a single vote shy of passage, according to The New York Times. The defeat came after a last-ditch effort to amend the beleaguered legislation, which ultimately generated new opposition.

S2173 would have prohibited parents from using religious beliefs as an excuse to get out of providing standard, life-saving immunizations for their children. Instead, only children with medical conditions that preclude a child from being vaccinated—as outlined by the Centers for Disease Control and Prevention—would be granted an exemption.