Genetic genealogy comes of age: Perspectives on the use of deep‐rooted pedigrees in human population genetics

Abstract

In this article, we promote the implementation of extensive genealogical data in population genetic studies. Genealogical records can provide valuable information on the origin of DNA donors in a population genetic study, going beyond the commonly collected data such as residence, birthplace, language, and self-reported ethnicity. Recent studies demonstrated that extended genealogical data added to surname analysis can be crucial to detect signals of (past) population stratification and to interpret the population structure in a more objective manner. Moreover, when in-depth pedigree data are combined with haploid markers, it is even possible to disentangle signals of temporal differentiation within a population genetic structure during the last centuries. Obtaining genealogical data for all DNA donors in a population genetic study is a labor-intensive task but the vastly growing (genetic) genealogical databases, due to the broad interest of the public, are making this job more time-efficient if there is a guarantee for sufficient data quality. At the end, we discuss the advantages and pitfalls of using genealogy within sampling campaigns and we provide guidelines for future population genetic studies.

Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings

“…If the head sample was indeed attributed to Henri IV, this would mean that a non-maternity event happened somewhere between Henri IV and Marie-Antoinette, an event which is known to occur very exceptionally but without any indication in written records. 52 Finally, there is also the other (genetic) data that conflict with the attribution of the presumptive blood sample of Louis XVI. The chance that the donor of the blood sample was a non-blue-eyed person is 84.2% because of the heterozygote SNP rs12913832 on the HERC2 gene.…”

High Y-chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European Low Countries during the surname establishment

“…Firstly, ancient DNA analysis on archaeological material may reveal the genetic diversity at a certain location and at a particular time. It is, however, difficult to obtain enough samples to make statistically relevant conclusions for a population, especially owing to the practical difficulties of retrieving verifiable and contamination-free DNA data and the lack of sufficient individuals (Larmuseau et al, 2013b). Secondly, DNA of currently living individuals may suggest past relatedness and genetic diversity within the population of a village or region (Winney et al, 2012).…”

“…However, modern DNA sampling in Western Europe-even when the birthplaces of grandparent's are taken into account to collect DNA donors-will always provide a blurred and misleading picture of a specific past time period under study owing to more recent migrations and expansions (Winney et al, 2012;Larmuseau et al, 2013b). To deal with this problem, the unique link between a heritable cultural marker -the patrilineal surname-and a genetic marker-the Y chromosome -provides an opportunity to target sets of living individuals that might resemble populations at the time of surname establishment until today (Bowden et al, 2008;Larmuseau et al, 2012b).…”

“…To deal with this problem, the unique link between a heritable cultural marker -the patrilineal surname-and a genetic marker-the Y chromosome -provides an opportunity to target sets of living individuals that might resemble populations at the time of surname establishment until today (Bowden et al, 2008;Larmuseau et al, 2012b). In addition, it is possible to organise sampling campaigns for a specific location by using the genetic genealogical approach, which selects indigenous surnames based on the historical documents and carries out in-depth genealogical research for each DNA donor to exclude descendants of illegitimate children, adoptees, extra-pair paternity (EPP) and migrants with an adopted local surname (Larmuseau et al, 2013b).…”

“…Although, a study on (West-European) communities with the required criteria of the genetic genealogical approach has not been performed yet to our knowledge. This is mainly because of the time-consuming sampling criteria (Larmuseau et al, 2013b). An optimal Western European region to study the value of this approach on a community level is Flanders (Belgium) owing to its central location, its lack of noteworthy cultural and geographical isolates in the 'open' geography, and the decades-long tradition of performing archaeology, historical population registration and surname studies on a communal and regional scale (Cloet and Vandenbroeke, 1989;Debrabandere, 2003;Barrai et al, 2004).…”