Université de Fribourg

Low prevalence of lactase persistence in bronze age europe indicates ongoing strong selection over the last 3,000 years

Burger, Joachim ; Link, Vivian ; Blöcher, Jens ; Schulz, Anna ; Sell, Christian ; Pochon, Zoé ; Diekmann, Yoan ; Žegarac, Aleksandra ; Hofmanová, Zuzana ; Winkelbach, Laura ; Reyna-Blanco, Carlos S. ; Bieker, Vanessa ; Orschiedt, Jörg ; Brinker, Ute ; Scheu, Amelie ; Leuenberger, Christoph ; Bertino, Thomas S. ; Bollongino, Ruth ; Lidke, Gundula ; Stefanović, Sofija ; Jantzen, Detlef ; Kaiser, Elke ; Terberger, Thomas ; Thomas, Mark G. ; Veeramah, Krishna R. ; Wegmann, Daniel

In: Current Biology, 2020, p. -

Lactase persistence (LP), the continued expression of lactase into adulthood, is the most strongly selected single gene trait over the last 10,000 years in multiple human populations. It has been posited that the primary allele causing LP among Eurasians, rs4988235-A [1], only rose to appreciable frequencies during the Bronze and Iron Ages [2, 3], long after humans started consuming milk from...

Université de Fribourg

Estimating and accounting for genotyping errors in RAD-seq experiments

Bresadola, Luisa ; Link, Vivian ; Buerkle, C. Alex ; Lexer, Christian ; Wegmann, Daniel

In: Molecular Ecology Resources, 2020, vol. 20, no. 4, p. 856–870

In non-model organisms, evolutionary questions are frequently addressed using reduced representation sequencing techniques due to their low cost, ease of use, and because they do not require genomic resources such as a reference genome. However, evidence is accumulating that such techniques may be affected by specific biases, questioning the accuracy of obtained genotypes, and as a...

Université de Fribourg

Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria

Veeramah, Krishna R. ; Rott, Andreas ; Groß, Melanie ; Dorp, Lucy van ; López, Saioa ; Kirsanow, Karola ; Sell, Christian ; Blöcher, Jens ; Wegmann, Daniel ; Link, Vivian ; Hofmanová, Zuzana ; Peters, Joris ; Trautmann, Bernd ; Gairhos, Anja ; Haberstroh, Jochen ; Päffgen, Bernd ; Hellenthal, Garrett ; Haas-Gebhard, Brigitte ; Harbeck, Michaela ; Burger, Joachim

In: Proceedings of the National Academy of Sciences, 2018, p. 201719880

Modern European genetic structure demonstrates strong correlations with geography, while genetic analysis of prehistoric humans has indicated at least two major waves of immigration from outside the continent during periods of cultural change. However, population-level genome data that could shed light on the demographic processes occurring during the intervening periods have been absent....

Université de Fribourg

Male mutation bias is the main force shaping chromosomal substitution rates in monotreme mammals

Link, Vivian ; Aguilar-Gómez, Diana ; Ramírez-Suástegui, Ciro ; Hurst, Laurence D. ; Cortez, Diego

In: Genome Biology and Evolution, 2017, vol. 9, no. 9, p. 2198–2210

In many species, spermatogenesis involves more cell divisions than oogenesis, and the male germline, therefore, accumulates more DNA replication errors, a phenomenon known as male mutation bias. The extent of male mutation bias (α) is estimated by comparing substitution rates of the X, Y, and autosomal chromosomes, as these chromosomes spend different proportions of their time in the...

Université de Fribourg

Inferring heterozygosity from ancient and low coverage genomes

Kousathanas, Athanasios ; Leuenberger, Christoph ; Link, Vivian ; Sell, Christian ; Burger, Joachim ; Wegmann, Daniel

In: Genetics, 2017, vol. 205, no. 1, p. 317–332

While genetic diversity can be quantified accurately from high coverage sequencing data, it is often desirable to obtain such estimates from data with low coverage, either to save costs or because of low DNA quality, as is observed for ancient samples. Here, we introduce a method to accurately infer heterozygosity probabilistically from sequences with average coverage Embedded Image of a...

Université de Fribourg

Atlas: analysis tools for low-depth and ancient samples

Link, Vivian ; Kousathanas, Athanasios ; Veeramah, Krishna ; Sell, Christian ; Scheu, Amelie ; Wegmann, Daniel

In: bioRxiv, 2017, p. 105346

Summary: Post-mortem damage (PMD) obstructs the proper analysis of ancient DNA samples and can currently only be addressed by removing or down-weighting potentially damaged data. Here we present ATLAS, a suite of methods to accurately genotype and estimate genetic diversity from ancient samples, while accounting for PMD. It works directly from raw BAM files and enables the building of...

Université de Fribourg

Early farmers from across Europe directly descended from Neolithic Aegeans

Hofmanová, Zuzana ; Kreutzer, Susanne ; Hellenthal, Garrett ; Sell, Christian ; Diekmann, Yoan ; Díez-del-Molino, David ; Dorp, Lucy van ; López, Saioa ; Kousathanas, Athanasios ; Link, Vivian ; Kirsanow, Karola ; Cassidy, Lara M. ; Martiniano, Rui ; Strobel, Melanie ; Scheu, Amelie ; Kotsakis, Kostas ; Halstead, Paul ; Triantaphyllou, Sevi ; Kyparissi-Apostolika, Nina ; Urem-Kotsou, Dushka ; Ziota, Christina ; Adaktylou, Fotini ; Gopalan, Shyamalika ; Bobo, Dean M. ; Winkelbach, Laura ; Blöcher, Jens ; Unterländer, Martina ; Leuenberger, Christoph ; Çilingiroğlu, Çiler ; Horejs, Barbara ; Gerritsen, Fokke ; Shennan, Stephen J. ; Bradley, Daniel G. ; Currat, Mathias ; Veeramah, Krishna R. ; Wegmann, Daniel ; Thomas, Mark G. ; Papageorgopoulou, Christina ; Burger, Joachim

In: Proceedings of the National Academy of Sciences, 2016, vol. 113, no. 25, p. 6886–6891

Farming and sedentism first appeared in southwestern Asia during the early Holocene and later spread to neighboring regions, including Europe, along multiple dispersal routes. Conspicuous uncertainties remain about the relative roles of migration, cultural diffusion, and admixture with local foragers in the early Neolithization of Europe. Here we present paleogenomic data for five Neolithic...