On the use of genome-wide data to model and date the time of anthropogenic hybridisation: an example from the Scottish wildcat

While hybridisation has long been recognised as an important natural phenomenon in evolution, the conservation of taxa subject to introgressive hybridisation from domesticated forms is a subject of intense debate. Hybridisation of the Scottish wildcat, the UK’s sole extant native felid, with the domestic cat is a good example in this regard. We develop a modelling framework to determine the timescale and mode of introgression using approximate Bayesian computation (ABC). Applying the model to ddRAD-seq data from 129 individuals, genotyped at 6,546 loci, we show that a population of wildcats genetically distant from domestic cats is still present in Scotland, though these individuals are found almost exclusively within the captive breeding program. Most wild-living cats sampled were introgressed to some extent. Additionally, we evaluate the effectiveness of current methods that are used to classify hybrids. We show that an optimised 35 SNP panel is a better predictor of the ddRAD-based hybrid score in comparison with a morphological method.

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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

Science Advances ◽

10.1126/sciadv.abd9036 ◽

2021 ◽

Vol 7 (3) ◽

pp. eabd9036

Author(s):

Sara Saez-Atienzar ◽

Sara Bandres-Ciga ◽

Rebekah G. Langston ◽

Jonggeol J. Kim ◽

Shing Wan Choi ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Membrane Trafficking ◽

Molecular Mechanisms ◽

Cell Types ◽

Polygenic Risk Score ◽

Genome Wide ◽

Genome Wide Data ◽

Data Driven Approach ◽

Single Nucleus ◽

Lateral Sclerosis

Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. We analyzed genome-wide data involving 78,500 individuals using a polygenic risk score approach to identify the biological pathways and cell types involved in ALS. This data-driven approach identified multiple aspects of the biology underlying the disease that resolved into broader themes, namely, neuron projection morphogenesis, membrane trafficking, and signal transduction mediated by ribonucleotides. We also found that genomic risk in ALS maps consistently to GABAergic interneurons and oligodendrocytes, as confirmed in human single-nucleus RNA-seq data. Using two-sample Mendelian randomization, we nominated six differentially expressed genes (ATG16L2, ACSL5, MAP1LC3A, MAPKAPK3, PLXNB2, and SCFD1) within the significant pathways as relevant to ALS. We conclude that the disparate genetic etiologies of this fatal neurological disease converge on a smaller number of final common pathways and cell types.

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Ancient genomic time transect from the Central Asian Steppe unravels the history of the Scythians

Science Advances ◽

10.1126/sciadv.abe4414 ◽

2021 ◽

Vol 7 (13) ◽

pp. eabe4414

Author(s):

Guido Alberto Gnecchi-Ruscone ◽

Elmira Khussainova ◽

Nurzhibek Kahbatkyzy ◽

Lyazzat Musralina ◽

Maria A. Spyrou ◽

...

Keyword(s):

Bronze Age ◽

Iron Age ◽

Gene Pools ◽

Social Rules ◽

Eurasian Steppe ◽

Central Asian ◽

Genome Wide ◽

Genome Wide Data ◽

History Of ◽

First Millennium

The Scythians were a multitude of horse-warrior nomad cultures dwelling in the Eurasian steppe during the first millennium BCE. Because of the lack of first-hand written records, little is known about the origins and relations among the different cultures. To address these questions, we produced genome-wide data for 111 ancient individuals retrieved from 39 archaeological sites from the first millennia BCE and CE across the Central Asian Steppe. We uncovered major admixture events in the Late Bronze Age forming the genetic substratum for two main Iron Age gene-pools emerging around the Altai and the Urals respectively. Their demise was mirrored by new genetic turnovers, linked to the spread of the eastern nomad empires in the first centuries CE. Compared to the high genetic heterogeneity of the past, the homogenization of the present-day Kazakhs gene pool is notable, likely a result of 400 years of strict exogamous social rules.

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Genome diversity in Ukraine

GigaScience ◽

10.1093/gigascience/giaa159 ◽

2021 ◽

Vol 10 (1) ◽

Author(s):

Taras K Oleksyk ◽

Walter W Wolfsberger ◽

Alexandra M Weber ◽

Khrystyna Shchubelka ◽

Olga T Oleksyk ◽

...

Keyword(s):

Sequence Data ◽

Copy Number Variations ◽

Genomic Variation ◽

High Coverage ◽

Genome Data ◽

New Information ◽

Genome Wide ◽

Public Data ◽

Genome Wide Data ◽

Multiple Samples

Abstract Background The main goal of this collaborative effort is to provide genome-wide data for the previously underrepresented population in Eastern Europe, and to provide cross-validation of the data from genome sequences and genotypes of the same individuals acquired by different technologies. We collected 97 genome-grade DNA samples from consented individuals representing major regions of Ukraine that were consented for public data release. BGISEQ-500 sequence data and genotypes by an Illumina GWAS chip were cross-validated on multiple samples and additionally referenced to 1 sample that has been resequenced by Illumina NovaSeq6000 S4 at high coverage. Results The genome data have been searched for genomic variation represented in this population, and a number of variants have been reported: large structural variants, indels, copy number variations, single-nucletide polymorphisms, and microsatellites. To our knowledge, this study provides the largest to-date survey of genetic variation in Ukraine, creating a public reference resource aiming to provide data for medical research in a large understudied population. Conclusions Our results indicate that the genetic diversity of the Ukrainian population is uniquely shaped by evolutionary and demographic forces and cannot be ignored in future genetic and biomedical studies. These data will contribute a wealth of new information bringing forth a wealth of novel, endemic and medically related alleles.

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Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry

Nature ◽

10.1038/s41586-021-03335-3 ◽

2021 ◽

Vol 592 (7853) ◽

pp. 253-257 ◽

Cited By ~ 3

Author(s):

Mateja Hajdinjak ◽

Fabrizio Mafessoni ◽

Laurits Skov ◽

Benjamin Vernot ◽

Alexander Hübner ◽

...

Keyword(s):

Family History ◽

East Asia ◽

Late Pleistocene ◽

Modern Human ◽

Human Migration ◽

Upper Palaeolithic ◽

Modern Humans ◽

Genome Wide ◽

Genome Wide Data

AbstractModern humans appeared in Europe by at least 45,000 years ago1–5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.

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On the origin and diversification of Podolian cattle breeds: testing scenarios of European colonization using genome-wide SNP data

Genetics Selection Evolution ◽

10.1186/s12711-021-00639-w ◽

2021 ◽

Vol 53 (1) ◽

Author(s):

Gabriele Senczuk ◽

Salvatore Mastrangelo ◽

Paolo Ajmone-Marsan ◽

Zsolt Becskei ◽

Paolo Colangelo ◽

...

Keyword(s):

Genetic Diversity ◽

Diversity Indices ◽

Melting Pot ◽

Cattle Breeds ◽

Snp Data ◽

Early Migration ◽

Genome Wide ◽

European Colonization ◽

Approximate Bayesian ◽

European Cattle

Abstract Background During the Neolithic expansion, cattle accompanied humans and spread from their domestication centres to colonize the ancient world. In addition, European cattle occasionally intermingled with both indicine cattle and local aurochs resulting in an exclusive pattern of genetic diversity. Among the most ancient European cattle are breeds that belong to the so-called Podolian trunk, the history of which is still not well established. Here, we used genome-wide single nucleotide polymorphism (SNP) data on 806 individuals belonging to 36 breeds to reconstruct the origin and diversification of Podolian cattle and to provide a reliable scenario of the European colonization, through an approximate Bayesian computation random forest (ABC-RF) approach. Results Our results indicate that European Podolian cattle display higher values of genetic diversity indices than both African taurine and Asian indicine breeds. Clustering analyses show that Podolian breeds share close genomic relationships, which suggests a likely common genetic ancestry. Among the simulated and tested scenarios of the colonization of Europe from taurine cattle, the greatest support was obtained for the model assuming at least two waves of diffusion. Time estimates are in line with an early migration from the domestication centre of non-Podolian taurine breeds followed by a secondary migration of Podolian breeds. The best fitting model also suggests that the Italian Podolian breeds are the result of admixture between different genomic pools. Conclusions This comprehensive dataset that includes most of the autochthonous cattle breeds belonging to the so-called Podolian trunk allowed us not only to shed light onto the origin and diversification of this group of cattle, but also to gain new insights into the diffusion of European cattle. The most well-supported scenario of colonization points to two main waves of migrations: with one that occurred alongside with the Neolithic human expansion and gave rise to the non-Podolian taurine breeds, and a more recent one that favoured the diffusion of European Podolian. In this process, we highlight the importance of both the Mediterranean and Danube routes in promoting European cattle colonization. Moreover, we identified admixture as a driver of diversification in Italy, which could represent a melting pot for Podolian cattle.

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A curated dataset of modern and ancient high-coverage shotgun human genomes

Scientific Data ◽

10.1038/s41597-021-00980-1 ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Pierpaolo Maisano Delser ◽

Eppie R. Jones ◽

Anahit Hovhannisyan ◽

Lara Cassidy ◽

Ron Pinhasi ◽

...

Keyword(s):

Sequence Data ◽

Whole Genome ◽

Reference Dataset ◽

High Coverage ◽

Sample Distribution ◽

Human Samples ◽

Human Genomes ◽

Genome Wide ◽

Genome Wide Data ◽

Computationally Intensive

AbstractOver the last few years, genome-wide data for a large number of ancient human samples have been collected. Whilst datasets of captured SNPs have been collated, high coverage shotgun genomes (which are relatively few but allow certain types of analyses not possible with ascertained captured SNPs) have to be reprocessed by individual groups from raw reads. This task is computationally intensive. Here, we release a dataset including 35 whole-genome sequenced samples, previously published and distributed worldwide, together with the genetic pipeline used to process them. The dataset contains 72,041,355 sites called across 19 ancient and 16 modern individuals and includes sequence data from four previously published ancient samples which we sequenced to higher coverage (10–18x). Such a resource will allow researchers to analyse their new samples with the same genetic pipeline and directly compare them to the reference dataset without re-processing published samples. Moreover, this dataset can be easily expanded to increase the sample distribution both across time and space.

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Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data

PLoS ONE ◽

10.1371/journal.pone.0202890 ◽

2018 ◽

Vol 13 (9) ◽

pp. e0202890 ◽

Cited By ~ 1

Author(s):

Zsolt Bánfai ◽

Valerián Ádám ◽

Etelka Pöstyéni ◽

Gergely Büki ◽

Márta Czakó ◽

...

Keyword(s):

The Caucasus ◽

Caucasus Region ◽

Genome Wide ◽

Genome Wide Data ◽

The Impact

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Genetic legacy of state centralization in the Kuba Kingdom of the Democratic Republic of the Congo

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.1811211115 ◽

2018 ◽

Vol 116 (2) ◽

pp. 593-598 ◽

Cited By ~ 4

Author(s):

Lucy van Dorp ◽

Sara Lowes ◽

Jonathan L. Weigel ◽

Naser Ansari-Pour ◽

Saioa López ◽

...

Keyword(s):

Large Scale ◽

Democratic Republic ◽

Central Province ◽

Genome Wide ◽

Genetic Patterns ◽

Genetic Impact ◽

Genome Wide Data ◽

Republic Of The Congo ◽

History Of ◽

State Centralization

Few phenomena have had as profound or long-lasting consequences in human history as the emergence of large-scale centralized states in the place of smaller scale and more local societies. This study examines a fundamental, and yet unexplored, consequence of state formation: its genetic legacy. We studied the genetic impact of state centralization during the formation of the eminent precolonial Kuba Kingdom of the Democratic Republic of the Congo (DRC) in the 17th century. We analyzed genome-wide data from over 690 individuals sampled from 27 different ethnic groups from the Kasai Central Province of the DRC. By comparing genetic patterns in the present-day Kuba, whose ancestors were part of the Kuba Kingdom, with those in neighboring non-Kuba groups, we show that the Kuba today are more genetically diverse and more similar to other groups in the region than expected, consistent with the historical unification of distinct subgroups during state centralization. We also found evidence of genetic mixing dating to the time of the Kingdom at its most prominent. Using this unique dataset, we characterize the genetic history of the Kasai Central Province and describe the historic late wave of migrations into the region that contributed to a Bantu-like ancestry component found across large parts of Africa today. Taken together, we show the power of genetics to evidence events of sociopolitical importance and highlight how DNA can be used to better understand the behaviors of both people and institutions in the past.

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The valid nomen for the tree frog (genus Hyla) of Tunisia and Eastern Algeria

Zootaxa ◽

10.11646/zootaxa.4759.4.12 ◽

2020 ◽

Vol 4759 (4) ◽

pp. 597-599 ◽

Cited By ~ 1

Author(s):

CHRISTOPHE DUFRESNES ◽

PIERRE-ANDRÉ CROCHET

Keyword(s):

Mediterranean Basin ◽

Western Mediterranean ◽

Northern Italy ◽

Tree Frog ◽

Rad Sequencing ◽

Western Mediterranean Basin ◽

Genome Wide ◽

Genome Wide Data ◽

Tree Frogs ◽

Eastern Algeria

Mediterranean tree frogs, Hyla gr. meridionalis Boettger, 1874 (Anura: Hylidae) are widespread around the Western Mediterranean Basin, where they naturally occur across the Maghreb (Morocco, Algeria, Tunisia). Individuals of diverse Moroccan origins have been introduced and have expanded throughout the Iberian Peninsula, southern France and northern Italy (Liguria), but also on the Canary and Balearic archipelagos (Recuero et al. 2007; Dufresnes et al. 2019). Early molecular studies uncovered several mitochondrial lineages and suggested a major cryptic diversification within this taxon, with Tunisian and eastern Algerian (Numidia) populations carrying deeply divergent haplotypes compared with the rest of the range (Recuero et al. 2007; Stöck et al. 2008; Stöck et al. 2012). While intron markers showed little differentiation (Stöck et al. 2008; Stöck et al. 2012), genome-wide data obtained from RAD-sequencing have supported the deep split suspected from mtDNA (Dufresnes et al. 2018).

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