Article

Genetic Genealogy Comes of Age: Perspectives on the Use of Deep-Rooted Pedigrees in Human Population Genetics.

UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium; Department of Imaging and Pathology, KU Leuven, Forensic Medicine, Leuven, Belgium; KU Leuven, Department of Biology, Laboratory of Biodiversity and Evolutionary Genomics, Leuven, Belgium.
American Journal of Physical Anthropology (Impact Factor: 2.48). 02/2013; DOI: 10.1002/ajpa.22233
Source: PubMed

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. Am J Phys Anthropol, 2013. © 2013 Wiley Periodicals, Inc.

21 Bookmarks
 · 
995 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Y-chromosomal short tandem repeats (Y-STRs) are often used in addition to Y-chromosomal single-nucleotide polymorphisms (Y-SNP) to detect subtle patterns in a population genetic structure. There are, however, indications for Y-STR haplotype resemblance across different subhaplogroups within haplogroup R1b1b2 (R-M269) which may lead to erosion in the observation of the population genetic pattern. Hence the question arises whether Y-STR haplotypes are still informative beyond high-resolution Y-SNP genotyping for population genetic studies. To address this question, we genotyped the Y chromosomes of more than 1000 males originating from the West-European regions of Flanders (Belgium), North-Brabant and Limburg (the Netherlands) at the highest resolution of the current Y-SNP tree together with 38 commonly used Y-STRs. We observed high resemblance of Y-STR haplotypes between males belonging to different subhaplogroups of haplogroup R-M269. Several subhaplogroups within R-M269 could not be distinguished from each other based on differences in Y-STR haplotype variation. The most likely hypothesis to explain this similarity of Y-STR haplotypes within the population of R-M269 members is a recent radiation where various subhaplogroups originated within a relatively short time period. We conclude that high-resolution Y-SNP typing rather than Y-STR typing might be more useful to study population genetic patterns in (Western) Europe.
    Annals of Human Genetics 03/2014; 78(2):92-103. · 2.22 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The previously published genetic identification of presumptive samples attributed to two French kings, Henri IV and Louis XVI, by Charlier et al., was recently refuted by a genetic genealogic approach. This (provisional) refutation illustrates the difficulties in confirming the identification of historical DNA samples using limited genetic data. Therefore, we want to stress the necessity of including the genetic genealogic approach - which relies on DNA typing of living relatives of the presumptive donor as a confirmed reference - to validate genetic results in historical cases. Moreover, the popularity and broad media coverage of such studies are useful in bringing awareness to the general public, non-DNA forensic experts and lawyers about the complexity of DNA typing in forensic cases.
    Forensic Science International: Genetics 11/2013; · 3.86 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Recent evidence suggests that seeking out extra-pair paternity (EPP) can be a viable alternative reproductive strategy for both males and females in many pair-bonded species, including humans. Accurate data on EPP rates in humans, however, are scant and mostly restricted to extant populations. Here, we provide the first large-scale, unbiased genetic study of historical EPP rates in a Western European human population based on combining Y-chromosomal data to infer genetic patrilineages with genealogical and surname data, which reflect known historical presumed paternity. Using two independent methods, we estimate that over the last few centuries, EPP rates in Flanders (Belgium) were only around 1-2% per generation. This figure is substantially lower than the 8-30% per generation reported in some behavioural studies on historical EPP rates, but comparable with the rates reported by other genetic studies of contemporary Western European populations. These results suggest that human EPP rates have not changed substantially during the last 400 years in Flanders and imply that legal genealogies rarely differ from the biological ones. This result has significant implications for a diverse set of fields, including human population genetics, historical demography, forensic science and human sociobiology.
    Proceedings of the Royal Society B: Biological Sciences 01/2013; 280(1772):20132400. · 5.68 Impact Factor

Full-text

Download
407 Downloads
Available from
May 20, 2014