title: The Paternal Landscape along the Bight of Benin - Testing Regional Representativeness of West-African Population Samples Using Y-Chromosomal Markers.
abstract: Patterns of genetic variation in human populations across the African continent are still not well studied in comparison with Eurasia and America, despite the high genetic and cultural diversity among African populations. In population and forensic genetic studies a single sample is often used to represent a complete African region. In such a scenario, inappropriate sampling strategies and/or the use of local, isolated populations may bias interpretations and pose questions of representativeness at a macrogeographic-scale. The non-recombining region of the Y-chromosome (NRY) has great potential to reveal the regional representation of a sample due to its powerful phylogeographic information content. An area poorly characterized for Y-chromosomal data is the West-African region along the Bight of Benin, despite its important history in the trans-Atlantic slave trade and its large number of ethnic groups, languages and lifestyles. In this study, Y-chromosomal haplotypes from four Beninese populations were determined and a global meta-analysis with available Y-SNP and Y-STR data from populations along the Bight of Benin and surrounding areas was performed. A thorough methodology was developed allowing comparison of population samples using Y-chromosomal lineage data based on different Y-SNP panels and phylogenies. Geographic proximity turned out to be the best predictor of genetic affinity between populations along the Bight of Benin. Nevertheless, based on Y-chromosomal data from the literature two population samples differed strongly from others from the same or neighbouring areas and are not regionally representative within large-scale studies. Furthermore, the analysis of the HapMap sample YRI of a Yoruban population from South-western Nigeria based on Y-SNPs and Y-STR data showed for the first time its regional representativeness, a result which is important for standard population and forensic genetic applications using the YRI sample. Therefore, the uniquely and powerful geographical information carried by the Y-chromosome makes it an important locus to test the representativeness of a certain sample even in the genomic era, especially in poorly investigated areas like Africa.
authors.affiliation: KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium.|KU Leuven, Laboratory of Socioecology and Social Evolution, Department of Biology, Leuven, Belgium.|University of Leicester, Department of Genetics, Leicester, United Kingdom.
authors.forename: Maarten H D
authors.initials: MH
authors.lastname: Larmuseau
authors.affiliation: KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium.|University of Rome Tor Vergata, Department of Biology, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Vessi
authors.affiliation: University of Leicester, Department of Genetics, Leicester, United Kingdom.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jobling
authors.affiliation: KU Leuven, Laboratory of Socioecology and Social Evolution, Department of Biology, Leuven, Belgium.
authors.forename: Anneleen
authors.initials: A
authors.lastname: Van Geystelen
authors.affiliation: University of Rome Tor Vergata, Department of Biology, Rome, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Primativo
authors.affiliation: University of L'Aquila, Department of Clinical Medicine, Public Health, Life and Environment, L'Aquila, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Biondi
authors.affiliation: University of Rome Tor Vergata, Department of Biology, Rome, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Martínez-Labarga
authors.affiliation: KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium.|University of Rome Tor Vergata, Department of Biology, Rome, Italy.|KU Leuven, Centre for Archaeological Sciences, Department of Earth and Environmental Sciences, Leuven, Belgium.
authors.forename: Claudio
authors.initials: C
authors.lastname: Ottoni
authors.affiliation: KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium.|UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
authors.forename: Ronny
authors.initials: R
authors.lastname: Decorte
authors.affiliation: University of Rome Tor Vergata, Department of Biology, Rome, Italy.
authors.forename: Olga
authors.initials: O
authors.lastname: Rickards
mesh_terms: D001541:Benin; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005220:Fathers; D005819:Genetic Markers / Q000235:genetics*; D023281:Genomics; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers