Strong Genetic Differentiation Research Articles

Genome-wide SNPs detect no evidence of genetic population structure for reef manta rays (Mobula alfredi) in southern Mozambique.

Little is known about the extent of genetic connectivity along continuous coastlines in manta rays, or whether site visitation is influenced by relatedness. Such information is pertinent to defining population boundaries and understanding localized dispersal patterns and behaviour. Here, we use 3057 genome-wide single-nucleotide polymorphisms (SNPs) to evaluate population genetic structure and assess the levels of relatedness at aggregation sites of reef manta rays (Mobula alfredi) in southern Mozambique (n = 114). Contrary to indications of limited dispersal along the southern Mozambican coastline inferred from photo-identification and telemetry studies, our results show no evidence of population structure (non-significant FST < 0.001) for M. alfredi along this coast. We also found no evidence that individuals sampled at the same site were more related than expected by chance for males, females or across both sexes, suggesting that kinship may not influence visitation patterns at these sites. We estimated the effective population size (Ne) of this population to be 375 (95% CI = 369-380). Comparison to a distant eastern Indian Ocean site (Western Australia, n = 15) revealed strong genetic differentiation between Mozambique and Western Australia (FST = 0.377), identifying the Indian Ocean basin as a barrier to dispersal. Our findings show that genetic connectivity in M. alfredi extends for several hundred kilometres along continuous coastlines. We therefore recommend that the population in Mozambique be considered a discrete management unit, and future conservation plans should prioritize integrated strategies along the entire southern coastline.

Fine-scale spatial and temporal genomic variation among Dungeness crab Cancer magister larval recruits in the California Current Ecosystem

Dynamic marine environments can shape complex spatial and temporal patterns in the population connectivity of marine species, and this is often exemplified in species with long larval phases. Here, we used a genotyping-by-sequencing (GBS) approach to examine fine-scale spatial and temporal genomic variation among Dungeness crabCancer magisterlarval recruits sampled in the California Current Ecosystem. Specifically, we compared samples collected during expected- and late-season recruitment time periods within 2 consecutive years (2017 and 2018) at 2 sites in Oregon, USA (Yaquina Bay and Coos Bay). Evidence was found for high gene flow between the expected- and late-season recruits within each year and at both sites based on 1389 neutral loci. In contrast, strong genetic differentiation was observed between these 2 groups within each year and at both sites based on variation at 2 putatively adaptive loci. Contrary to prediction, the magnitude of genetic differentiation between these 2 seasonal groups was greater in 2017 when the Pacific Decadal Oscillation was stronger, upwelling was weaker, and the spring transition was later. Spatial genetic variation was not observed within 2017 or 2018. Comparing across years, expected- and late-season groups were differentiated at putatively adaptive loci. Interestingly, strong genetic differentiation was also observed between late-season groups across years. We found no evidence for cohesive larval dispersal among recruits based on genetic relatedness estimates. Overall, our findings provide evidence for high connectivity within Dungeness crab, but suggest that selective pressures and ocean conditions influence the genetic composition of larval recruits both intra- and inter-annually.

Genetic diversity and genome-wide association analysis in Chinese hulless oat germplasm.

Genotyping-by-sequencing (GBS)-derived molecular markers reveal the distinct genetic population structure and relatively narrow genetic diversity of Chinese hulless oat landraces. Four markers linked to the naked grain gene (N1) are identified by genome-wide association study (GWAS). Interest in hulless oat (Avena sativa ssp. nuda), a variant of common oat (A. sativa) domesticated in Western Asia, has increased in recent years due to its free-threshing attribute and its domestication history. However, the genetic diversity and population structure of hulless oat, as well as the genetic mechanism of hullessness, are poorly understood. In this study, the genetic diversity and population structure of a worldwide sample of 805 oat lines including 186 hulless oats were investigated using genotyping-by-sequencing. Population structure analyses showed a strong genetic differentiation between hulless landraces vs other oat lines, including the modern hulless cultivars. The distinct subpopulation stratification of hulless landraces and their low genetic diversity suggests that a domestication bottleneck existed in hulless landraces. Additionally, low genetic diversity within European oats and strong differentiation between the spring oats and southern origin oat lines revealed by previous studies were also observed in this study. Genomic regions contributing to these genetic differentiations suggest that genetic loci related to growth habit and stress resistance may have been under intense selection, rather than the hulless-related genomic regions. Genome-wide association analysis detected four markers that were highly associated with hullessness. Three of these were mapped on linkage group Mrg21 at a genetic position between 195.7 and 212.1cM, providing robust evidence that the dominant N1 locus located on Mrg21 is the single major factor controlling this trait.

Habitat matters - Strong genetic and epigenetic differentiation in Linum catharticum from dry and wet grasslands.

Plant species differ in their ecological amplitude, with some species occurring in very different habitats under strongly differentiated environmental conditions. We were interested in to what extent the occurrence of Linum catharticum in dry calcareous grasslands (Bromion) and wet litter meadows (Molinion), two habitats on opposing ends concerning, for example, moisture level, is reflected on the genetic and epigenetic level. Using AFLP (amplified fragment length polymorphisms) and MSAP (methylation sensitive amplification polymorphisms) analyses, we studied the genetic and epigenetic variation of L. catharticum from calcareous grasslands and litter meadows. From each habitat, we included five study sites with 16 individuals per sampling location. We observed lower genetic than epigenetic diversity, but considerable differentiation among habitats, which was stronger on the genetic than the epigenetic level. Additionally, we observed a strong correlation of genetic and epigenetic distance, irrespective of geographic distance. The dataset included a large portion of fragments exclusively found in individuals from one or the other habitat. Some epigenetic fragments even occurred in different methylation states depending on the habitat. We conclude that environmental effects act on both the genetic and epigenetic level, producing the clear differentiation among plant individuals from calcareous grasslands and litter meadows. These results may also point into the direction of ecotype formation in this species.

Genetic structure of the mosquito Aedes aegypti in local forest and domestic habitats in Gabon and Kenya

BackgroundThe mosquito Aedes aegypti is a devastating disease vector transmitting several important human arboviral diseases. In its native range in Africa, the mosquito can be found in both the ancestral forest habitat and anthropogenic habitats such as villages. How do the different habitats impact the population genetic structure of the local mosquito populations?MethodsTo address this question, we simultaneously sampled Ae. aegypti from the forest and local villages in La Lopé, Gabon and Rabai, Kenya. The mosquitoes were genotyped at 12 microsatellite loci and a panel of ~25,000 single nucleotide polymorphisms (SNPs), which allowed us to estimate their genetic ancestries and the population genetic structure related to habitats and sampling sites.ResultsIn the context of the global population genetic structure of Ae. aegypti, clustering analysis showed that mosquitoes from the same locality (La Lopé or Rabai) have similar genetic ancestry, regardless of their habitats. Further analysis at the local scale also found no strong genetic differentiation between the forest and village mosquitoes in both La Lopé and Rabai. Interestingly, these results from our 2017 samples from Rabai, Kenya contrast to the documentation of genetic differentiation between village and forest mosquito collections from 1975–1976 and 2009. Between-habitat measures of genetic difference (Fst) vary across the genome, with a peak of high divergence observed at the third chromosome only in the La Lopé populations.ConclusionCollectively, these results demonstrated that there is little genetic isolation between forest and village habitats, which suggests possible extensive gene flow between them. From an epidemiological perspective, the forest habitat could act as a refuge for mosquitoes against vector control programmes in the domestic settings. Moreover, sylvatic populations could play a role in zoonotic pathogen transferred to humans. Therefore, future studies on disease transmission and vector control planning in the study area should take natural populations into consideration.

Rapid, strong population genetic differentiation, genomic signatures of climatic adaptation in an invasive mealybug

Diversity and DistributionsVolume 26, Issue 8 p. 1051-1052 CORRIGENDUMOpen Access Rapid, strong population genetic differentiation, genomic signatures of climatic adaptation in an invasive mealybug This article corrects the following: Rapid and strong population genetic differentiation and genomic signatures of climatic adaptation in an invasive mealybug Ling Ma Li-Jun Cao Ary A. Hoffmann Ya-Jun Gong Jin-Cui Chen Hong-Song Chen Xu-Bo Wang Ai-Ping Zeng Shu-Jun Wei Zhong-Shi Zhou Zhonge Hou Volume 26Issue 5Diversity and Distributions pages: 610-622 First Published online: March 10, 2020 First published: 06 July 2020 https://doi.org/10.1111/ddi.13105AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinked InRedditWechat In the article Ma, Cao, Hoffmann et al. (2020), the location of the red dots inside the map in Figure 1a was incorrect. The correct Figure 1 is shown below: Figure 1Open in figure viewerPowerPoint Sampling locations (a) and genetic structure of Phenacoccus solenopsis populations (b, c) based on potentially neutral genetic SNPs. JXNC: Nanchang, Jiangxi; JXGZ: Ganzhou, Jiangxi; FJPT: Putian, Fujian; ZJHZ: Zhejiang, Hangzhou; HNYY: Yueyang, Hunan; HNCS: Changsha, Hunan; XJTL: Tulufan, Xinjiang; AHHF: Hefei, Anhui; JSWX: Wuxi, Jiangsu; GDGZ: Guangdong, Guangzhou; GXNN: Nanning, Guangxi. The DAPC analysis showed XJTL and FJPT are outlier populations (b); the ADMIXTURE analysis showed XJTL, FJPT and AHHF were separated into different clusters when K was increased from 2 to 4, while, when K was increased to 11, almost all populations were assigned into different clusters except for HNCS and JXNC (c) The online version has been corrected. The author apologizes for this error and any confusion it may have caused. REFERENCE Ma, L., Cao, L.-J., Hoffmann, A. A., Gong, Y.-J., Chen, J.-C., Chen, H.-S., … Zhou, Z.-S. (2020). Rapid and strong population genetic differentiation and genomic signatures of climatic adaptation in an invasive mealybug. Diversity and Distributions, 26, 610– 622. https://doi.org/10.1111/ddi.13053Wiley Online LibraryWeb of Science®Google Scholar Volume26, Issue8August 2020Pages 1051-1052 FiguresReferencesRelatedInformation

High levels of population genetic differentiation in the American crocodile (Crocodylus acutus).

The American crocodile (Crocodylus acutus) is a widely distributed species across coastal and brackish areas of the Neotropical region of the Americas and the Greater Antilles. Available information on patterns of genetic differentiation in C. acutus shows a complex structuring influenced by interspecific interactions (mainly hybridization) and anthropogenic actions (mostly historical hunting, recent poaching, habitat loss and fragmentation, and unintentional translocation of individuals). In this study, we used data on mitochondrial DNA control region and 11 nuclear polymorphic microsatellite loci to assess the degree of population structure of C. acutus in South America, North America, Central America and the Greater Antilles. We used traditional genetic differentiation indices, Bayesian clustering and multivariate methods to create a more comprehensive picture of the genetic relationships within the species across its range. Analyses of mtDNA and microsatellite loci show evidence of a strong population genetic structure in the American crocodile, with unique populations in each sampling locality. Our results support previous findings showing large degrees of genetic differentiation between the continental and the Greater Antillean C. acutus. We report three new haplotypes unique to Venezuela, which are considerably less distant from the Central and North American haplotypes than to the Greater Antillean ones. Our findings reveal genetic population differentiation between Cuban and Jamaican C. acutus and offer the first evidence of strong genetic differentiation among the populations of Greater Antillean C. acutus.

Land masses and oceanic currents drive population structure of Heritiera littoralis, a widespread mangrove in the Indo-West Pacific.

Phylogeographic forces driving evolution of sea‐dispersed plants are often influenced by regional and species characteristics, although not yet deciphered at a large spatial scale for many taxa like the mangrove species Heritiera littoralis. This study aimed to assess geographic distribution of genetic variation of this widespread mangrove in the Indo‐West Pacific region and identify the phylogeographic factors influencing its present‐day distribution. Analysis of five chloroplast DNA fragments’ sequences from 37 populations revealed low genetic diversity at the population level and strong genetic structure of H. littoralis in this region. The estimated divergence times between the major genetic lineages indicated that glacial level changes during the Pleistocene epoch induced strong genetic differentiation across the Indian and Pacific Oceans. In comparison to the strong genetic break imposed by the Sunda Shelf toward splitting the lineages of the Indian and Pacific Oceans, the genetic differentiation between Indo‐Malesia and Australasia was not so prominent. Long‐distance dispersal ability of H. littoralis propagules helped the species to attain transoceanic distribution not only across South East Asia and Australia, but also across the Indian Ocean to East Africa. However, oceanic circulation pattern in the South China Sea was found to act as a barrier creating further intraoceanic genetic differentiation. Overall, phylogeographic analysis in this study revealed that glacial vicariance had profound influence on population differentiation in H. littoralis and caused low genetic diversity except for the refugia populations near the equator which might have persisted through glacial maxima. With increasing loss of suitable habitats due to anthropogenic activities, these findings therefore emphasize the urgent need for conservation actions for all populations throughout the distribution range of H. littoralis.

Strong differentiation within Diplocarpon rosae strains based on microsatellite markers and greenhouse‐based inoculation protocol on Rosa

AbstractThe haploid ascomycete Diplocarpon rosae is the causal agent of black spot disease on roses, a widespread and devastating disease in the outdoor landscape. In this study, we established a Eurasian collection of 77 monoconidial strains of D. rosae: 50 strains collected on cultivated roses in Europe and Asia, and 27 strains on wild roses in Kazakhstan. To provide tools to describe its biology and to study its genetic diversity, we sequenced two strains of D. rosae using Illumina paired‐end technology. The genome sizes of these two strains were estimated at 31.1 and 35.2 Mb, which are two times smaller than the genome size of the unique strain previously published. A BUSCO analysis confirmed a genome duplication of the strain previously sequenced and partial gene duplication of strains analysed in this study. Using the two genome sequences, 27 polymorphic microsatellite markers were identified. Polymorphism analysis of the 77 strains revealed a strong genetic differentiation between strains from cultivated and wild roses, and a lower diversity within the fungal population from cultivated roses compared to the population from wild roses. Pathogenicity of 10 strains was evaluated on 9 rose cultivars inoculated in the greenhouse. Disease scoring allowed the classification of strains into three groups and the characterization of resistance of rose cultivars. Good correlation observed between resistance scoring in greenhouse conditions and in the field indicates that pathogenicity assays in controlled conditions could be very useful in the near future to rapidly characterize the resistance of new rose varieties to black spot disease.

Chaotic genetic patchiness in the pelagic teleost fish Sardina pilchardus across the Siculo-Tunisian Strait

ABSTRACT This investigation aims at assessing patterns of spatial genetic structure of the teleost fish Sardina pilchardus across the Siculo-Tunisian Strait (a well-known discontinuous biogeographic area) and delineating putative genetic stocks within the species. For this purpose, a total of 180 specimens, collected from 11 locations stretching across the western and eastern Mediterranean coasts of Tunisia, were analysed genetically by means of 18 nuclear allozyme loci. The outcome of this study revealed strong genetic differentiation among populations, with the marked genetic distinctiveness of the central Tunisian population at Mahdia. Despite the delineation of seven well-defined genetic groups, no significant correlation was found between genetic and geographic distances. Besides, the recorded population subdivision did not align with biogeographic boundaries, suggesting the presence of chaotic genetic patchiness. Recent genetic bottlenecks were evidenced in S. pilchardus populations. Patchy migration patterns were recorded among the examined pairs of sardine populations. Among the recorded 16 polymorphic loci, GPI-2 and SOD appeared to be subject to natural selection. Patterns of population genetic differentiation and structuring were not found to be driven by outlier loci that appeared to be under selection. Furthermore, the detected neutral GPI-1 locus was found to be responsible for most of the genetic variation among identified genetic clusters. Hence, natural selection cannot cause the detected genetic heterogeneity among sardine samples. Different explanations to the origin of chaotic genetic patterns, observed within S. pilchardus, were discussed.

Comparing the diversity of the casein genes in the Asian mouflon and domestic sheep.

We aimed to determine whether casein variants that are currently segregating in ovine populations existed before the domestication of sheep or, to the contrary, if their emergence is much more recent. To this end, we have retrieved whole-genome sequences from Iranian and domestic sheep from Africa, Europe, South and East Asia and West Asia. Population structure analysis based on 55,352,935 SNPs revealed a clear separation between Iranian mouflons and domestic sheep. Moreover, we also observed a strong genetic differentiation between Iranian mouflons sampled in geographic areas close to Tehran and Tabriz. Based on sequence data, hundreds of SNPs mapping to the casein αS1 (CSN1S1, 248 SNPs), casein αS2 (CSN1S2, 268 SNPs), casein ß (CSN2, 146 SNPs) and casein κ (CSN3, 112 SNPs) genes were identified. Approximately 25-63.02% of the casein variation was shared between Iranian mouflons and domestic sheep, and the four domestic sheep populations also shared 44.2-57.4% of the casein polymorphic sites. These findings suggest that an important fraction of the casein variation present in domestic sheep was already segregating in the mouflon prior to its domestication. Genomic studies performed in horses and dogs are consistent with this view, suggesting that much of the diversity that we currently detect in domestic animals comes from standing variation already segregating in their wild ancestors.

Strong genetic differentiation among populations of Cheirotonus gestroi (Coleoptera: Euchiridae) in its native area sheds lights on species conservation

The long-armed scarab (Cheirotonus gestroi) is an endangered large insect in southwestern China and neighboring countries; however, limited information is available regarding its population genetics, hindering conservation efforts. Therefore, we investigated the population genetic structure and evolutionary history of C. gestroi in southwestern China. Twenty-five haplotypes were obtained from 47 specimens across five populations. The Dawei Mountain (DWS) population differed from other populations by a high genetic distance. Population structure analysis generated three distinct clades, corresponding to Hengduan Mountains (HM), Ailao Mountains (AM), and Dawei Mountains (DM), and high-level genetic diversity was found in two HM populations. Collectively, the strong genetic differentiation among populations might be due to limited gene flow, geographical isolation, and habitat fragmentation. Therefore, while developing a conservation strategy, HM, AM, and DM groups should be defined as separate management units. Additionally, the DWS population should be given priority protection due to its uniqueness and low genetic diversity.

Evidence of strong small‐scale population structure in the Antarctic freshwater copepod Boeckella poppei in lakes on Signy Island, South Orkney Islands

AbstractEnvironmental conditions were particularly severe during the Last Glacial Maximum, altering the distribution of the Southern Hemisphere biota, particularly at higher latitudes. The copepod Boeckella poppei is the only macroscopic continental invertebrate species known to be distributed today across the three main biogeographic regions in Antarctica as well as in southern South America. Signy Island (South Orkney Islands) is a unique location for the study of Antarctic freshwater ecosystems due to its location and geographic isolation; it contains 17 lakes in several low altitude catchments. We conducted phylogeographic and demographic analyses using the cox1 gene on 84 individuals of B. poppei from seven lakes across Signy Island. We recorded low levels of genetic diversity and a strong genetic differentiation signal between the eastern and western valleys within the island. Phylogeographic structure and demographic inference analyses suggested at least one asymmetrical dispersal event from west to east. Demographic inference detected a strong signal of population growth during the deglaciation process, which may have followed either (1) a strong genetic bottleneck due to a reduction in population size during the last glacial period, or (2) a founder effect associated with postglacial recolonization of Signy Island from elsewhere. The genetic architecture of this island's populations of B. poppei shows that historical events, rather than continuous dispersal events, likely played a major role in the species' current distribution. Finally, our study considers possible mechanisms for dispersal and colonization success of the most dominant species in the Antarctic freshwater community.

Phylogeography of Campanula fenestrellata s.l. (Campanulaceae) in the northern Adriatic

Campanula fenestrellata subsp. fenestrellata and C. fenestrellata subsp. istriaca belong to the morphologically and phylogenetically well established amphi-Adriatic group Campanula ser. Garganicae. The two morphologically differentiated endemic taxa are distributed on the north-eastern Adriatic islands and coast. In order to study the relationships among C. fenestrellata s.l. populations and to gain insight into genetic basis of taxonomic separation established on morphology, we examined amplified fragment length polymorphisms (AFLPs) as well as nuclear and plastid DNA sequences (ITS and trnL–trnF). With the sequence data, no structure and no distinction between the two subspecies were observed. The AFLPs separated populations geographically and inferred high number of most likely clusters. The northern and the southernmost populations were assigned to uniform separate clusters indicating the longer isolation of respective populations, while the admixed populations were evident in the central area where the two taxa geographically overlap, indicating the presence of gene flow. Distinct fragmentation patterns and the existence of several temporally continuous microrefugia during the Quaternary climatic oscillations likely promoted strong genetic differentiation within the species range, while secondary postglacial contacts are reflected in observed admixture. Although the two taxa exhibited differences in ecological preferences, niche conservatism was detected. Overall, phylogeographic reconstruction of C. fenestrellata s.l. populations highlights the importance of microrefugia in shaping the intraspecific genetic variation as well as of melting-pot areas in rearranging such variation as a result of a more recent admixture.

Rapid and strong population genetic differentiation and genomic signatures of climatic adaptation in an invasive mealybug

AbstractAimA growing number of studies suggest that adaptation of invasive species plays key roles in their successful establishment in novel environments. However, adaptation of invasive species to climatic conditions remains poorly characterized. This study aimed to understand the population genetic structure produced by the cotton mealybug Phenacoccus solenopsis invasion and to identify preliminary signals of selection during its range expansion.LocationChina.MethodsWe examined genetic structure of 11 populations across China using SNPs, microsatellites and a segment of mitochondrial cox1 gene. ADMIXTURE, STRUCTURE and DAPC were used to infer population genetic structure; the dispersal routes were reconstructed by the DIYABC; SNPs potentially related to climate adaptation were identified by using four populations differentiation methods and three environmental association methods.ResultsStrong genetic differentiation was found among populations with FST values ranging from 0.097 to 0.640 based on SNPs. Populations located at the northern expansion edge exhibited the highest genetic differentiation and the lowest genetic diversity. Demographic analyses indicated that all populations were introduced from a single source population with small effective size and low recent gene flow. RDA analysis showed that climatic variables explained a higher proportion of genetic variance (43%) compared to population structure variables (15%). The top climatic variables associated with genetic differentiation were precipitation of the mean temperature of warmest quarter, mean temperature of driest quarter and isothermality. Genes related to climate candidate SNPs were mainly enriched to pathways of development, energy and xenobiotic metabolisms.Main conclusionsWe found that extremely rapid and strong population genetic differentiation among populations appears to have developed after introduction in the cotton mealybug. Our study points to rapid neutral evolution and suggests possible climatic adaptation despite low genetic diversity in this invasive species.

Asian water buffalo: domestication, history and genetics.

The domestic Asian water buffalo (Bubalus bubalis) is found on all five continents, with a global population of some 202million. The livelihoods of more people depend on this species than on any other domestic animal. The two distinct types (river and swamp) descended from different wild Asian water buffalo (Bubalus arnee) populations that diverged some 900kyr BP and then evolved in separate geographical regions. After domestication in the western region of the Indian subcontinent (ca. 6300years BP), the river buffalo spread west as far as Egypt, the Balkans and Italy. Conversely, after domestication in the China/Indochina border region ca. 3000-7000years BP, swamp buffaloes dispersed through south-east Asia and China as far as the Yangtze River valley. Molecular and morphological evidence indicates that swamp buffalo populations have strong geographic genetic differentiation and a lack of gene flow, but strong phenotypic uniformity. In contrast, river buffalo populations show a weaker phylogeographic structure, but higher phenotypic diversity (i.e. many breeds). The recent availability of a high-quality reference genome and of a medium-density marker panel for genotyping has triggered a number of genome-wide investigations on diversity, evolutionary history, production traits and functional elements. The growing molecular knowledge combined with breeding programmes should pave the way to improvements in production, environmental adaptation and disease resistance in water buffalo populations worldwide.

A Genetic Structure Map of SARS-CoV-2 from 62 Geographic Regions

Successive transmission of SARS-CoV-2 has caused a devastating influence on human health and the global economy. Previous studies have reported the origin, genetic mutation, phylogenetic network, etc., of SARS-CoV-2, since the first report of its outbreak in Wuhan. We presented the spatial genetic structure map of SARS-CoV-2, and further, revealed the genomic regions that were responsible for local adaptation. Spatial genetic variations of SARS-CoV-2 uncovered nuanced geographic clines across adjacent countries and also closely genetic relations between isolates from America, Canada, and Australia. Generally, SARS-CoV-2 isolates exhibited a significant genetic structure with several clusters showing strong genetic differentiation. Notably, one of the clusters was shared only among America, Canada, and Australia isolates, however, it was not found in the isolates of other geographic regions. Whole-genome scan showed that genomic regions of S, E, and M genes were strongly associated with adaptation. This study mirrors a snapshot of SARS-CoV-2 recent transmission and continual evolution on a local and global scale.

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

BackgroundPhenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment according to geographical areas and patients’ ethnicity using a multiethnic nationwide cohort of patients with PKU in France. We subsequently appraised the population differentiation, balancing selection and the molecular evolutionary history of the PAH locus.MethodsThe French nationwide PKU study included patients who have been referred at the national level to the University Hospital of Nancy, and for whom a molecular diagnosis of phenylketonuria was made by Sanger sequencing. We performed enrichment analyses by comparing alternative allele frequencies using Fisher's exact test with Bonferroni adjustment. We estimated the amount of genetic differentiation among populations using Wright's fixation index (Fst). To estimate the molecular evolutionary history of the PAH gene, we performed phylogenetic and evolutionary analyses using whole-genome and exome-sequencing data from healthy individuals and non-PKU patients, respectively. Finally, we used exome-wide association study to decipher potential genetic loci associated with population divergence on PAH.FindingsThe study included 696 patients and revealed 132 pathogenic PAH variants. Three geographical areas showed significant enrichment for a pathogenic PAH variant: North of France (p.Arg243Leu), North-West of France (p.Leu348Val), and Mediterranean coast (p.Ala403Val). One PAH variant (p.Glu280Gln) was significantly enriched among North-Africans (OR = 23·23; 95% CI: 9·75–55·38). PAH variants exhibiting a strong genetic differentiation were significantly enriched in the ‘Biopterin_H’ domain (OR = 6·45; 95% CI: 1·99–20·84), suggesting a balancing selection pressure on the biopterin function of PAH. Phylogenetic and timetree analyses were consistent with population differentiation events on European-, African-, and Asian-ancestry populations. The five PAH variants most strongly associated with a high selection pressure were phylogenetically close and were located within the biopterin domain coding region of PAH or in its vicinity. Among the non-PAH loci potentially associated with population divergence, two reached exome-wide significance: SSPO (SCO-spondin) and DBH (dopamine beta-hydroxylase), involved in neuroprotection and metabolic adaptation, respectively.InterpretationOur data provide evidence on the combination of evolutionary and adaptive events in populations with distinct ancestries, which may explain the overdominance of some genetic variants on PAH.FundingFrench National Institute of Health and Medical Research (INSERM) UMR_S 1256.

First genetic assessment of brackish water polychaete Tylorrhynchus heterochaetus: mitochondrial COI sequences reveal strong genetic differentiation and population expansion in samples collected from southeast China and north Vietnam.

Tylorrhynchus heterochaetus is a widespread benthic polychaete worm found in coastal brackish waters of the west Pacific. It has high ecological and economic value as a biomarker of water quality and as a high-quality feed in aquaculture and fisheries and is considered a delicacy in some areas of Asia. However, it has experienced a marked reduction in recent years due to overexploitation as well as changes in the environment and climate. Here, to comprehensively understand its genetic background and thus provide insights for better conservation and utilization of this species, we assessed the genetic variability and demographic history of T. heterochaetus individuals sampled from eight locations along the coasts of southeast China and north Vietnam based on mitochondrial cytochrome c oxidase I (COI) sequences. We observed high haplotype diversity (Hd), with an average of 0.926, but relatively low nucleotide diversity (π), with a mean of 0.032 across all samples. A total of 94 polymorphic sites and 85 haplotypes were identified among 320 individuals. The pairwise genetic distances among haplotypes ranged from 0.001 to 0.067, with the high intraspecific divergence possibly reflecting geographic isolation and gene pool fragmentation. Significant genetic structures were revealed among the studied locations; specifically, the eight locations could be treated as six genetically different populations based on pairwise ΦST results (0.026–0.951, P<0.01). A significant pattern of isolation-by-distance was detected between the genetic and geographic distances (r=0.873, P=0.001). Three geographic lineages were defined based on phylogenetic tree and network analyses of COI haplotypes. AMOVA results indicated that genetic variations mainly occurred among the three lineages (89.96%). Tests of neutrality and mismatch distribution suggested that T. heterochaetus underwent recent population expansion. These results provide the first report on the genetic status of T. heterochaetus and will be valuable for the management of genetic resources and better understanding of the ecology and evolution in this species.

Population Structure and Genetic Diversity of Nile Tilapia (Oreochromis niloticus) Strains Cultured in Tanzania.

Understanding population structure and genetic diversity within and between local Nile tilapia lines cultured in Tanzania is important for sustainable aquaculture production. This study investigated the genetic structure and diversity among seven Nile tilapia populations in Tanzania (Karanga, Igunga, Ruhila, Fisheries Education and Training Agency, Tanzania Fisheries Research Institute, Kunduchi, and Lake Victoria). Double-digest restriction site-associated DNA (ddRAD) libraries were prepared from 140 individual fish (20 per population) and sequenced using an Illumina HiSeq 4000 resulting in the identification of 2,180 informative single nucleotide polymorphisms (SNPs). Pairwise Fst values revealed strong genetic differentiation between the closely related populations; FETA, Lake Victoria, and Igunga and those from TAFIRI and Karanga with values ranging between 0.45 and 0.55. Population structure was further evaluated using Bayesian model-based clustering (STRUCTURE) and discriminant analysis of principal components (DAPC). Admixture was detected among Karanga, Kunduchi, and Ruhila populations. A cross-validation approach (25% of individual fish from each population was considered of unknown origin) was conducted in order to test the efficiency of the SNP markers to correctly assign individual fish to the population of origin. The cross-validation procedure was repeated 10 times resulting in 77% of the tested individual fish being allocated to the correct population. Overall our results provide a new database of informative SNP markers for both conservation management and aquaculture activities of Nile tilapia strains in Tanzania.