Comparing the population structure of the specialist Butler’s gartersnake (Thamnophis butleri) and the generalist eastern gartersnake (Thamnophis sirtalis sirtalis) in Ontario and Michigan

Species differing in life history attributes vary in their responses to features within a shared landscape. We evaluated genetic structure of sympatric gartersnake species in Southwestern Ontario, Canada and south-east Michigan, U.S.A., where habitat fragmentation is high due to agriculture and urbanization. We surveyed genetic structure of the habitat specialist, Butler’s gartersnake (Thamnophis butleri; Cope, 1889) and habitat generalist, eastern gartersnake (Thamnophis sirtalis sirtalis; Linnaeus, 1758) using DNA microsatellites. Bayesian clustering, Discriminant Analysis of Principal Components, and pairwise population comparisons revealed genetic differentiation among three major regional clusters of Butler’s gartersnake with evidence of further division within one. Genetic clustering of Butler’s gartersnake suggest that inhospitable habitat limits dispersal. Eastern gartersnakes showed less structure, with assignment tests implying a single genetic cluster. We found positive significant Mantel’s r for both species in the smallest distance class (<15 kms), but significant isolation by distance for Thamnophis butleri only. These findings together imply that connectivity for eastern gartersnakes is less impacted by habitat loss and fragmentation or that we were less able to detect their effects. Our study shows the value of multispecies comparisons in studies seeking to understand the underlying causes of genetic structure in natural populations.

Concordance of the spectral properties of dorsal wing scales with the phylogeographic structure of European male Polyommatus icarus butterflies

The males of more than 80% of the Lycaenidae species belonging to the tribe Polyommatini exhibit structural coloration on their dorsal wing surfaces. These colors have a role in reinforcement in prezygotic reproductive isolation. The species-specific colors are produced by the cellular self-assembly of chitin/air nanocomposites. The spectral position of the reflectance maximum of such photonic nanoarchitectures depends on the nanoscale geometric dimensions of the elements building up the nanostructure. Previous work showed that the coloration of male Polyommatus icarus butterflies in the Western and Eastern Palearctic exhibits a characteristic spectral difference (20 nm). We investigated the coloration and the de novo developed DNA microsatellites of 80 P. icarus specimens from Europe from four sampling locations, spanning a distance of 1621 km. Remarkably good concordance was found between the spectral properties of the blue sexual signaling color (coincident within 5 nm) and the population genetic structure as revealed by 10 microsatellites for the P. icarus species.

Genetic diversity of Nile tilapia (Oreochromis niloticus) populations in Ethiopia: insights from nuclear DNA microsatellites and implications for conservation

Background Nile tilapia, Oreochromis niloticus (Linnaeus, 1758) is among the economically most important freshwater fish species in East Africa, and a major source of protein for local consumption. Human induced translocations of non-native stocks for aquaculture and fisheries have been found as a potential threat to the genetic diversity and integrity of local populations. In the present study, we investigate the genetic structure of O. niloticus from 16 waterbodies across Ethiopia using 37 microsatellite loci with SSR-GBAS techniques. Results The samples are structured into three main clusters shaped either by biogeographic factors or stocking activities. High FST values (Global FST = 0.438) between populations indicate a high level of genetic differentiation and may suggest long term isolation even within the same drainage systems. Natural populations of the Omo-Turkana system and the lakes in the Southern Main Ethiopian Rift showed the highest genetic variability while low variability was found in stocked populations of lakes Hora, Hashenge and Hayq. Conclusions The results presented herein, may provide an essential basis for the management and conservation of the unique genetic resources in northern East Africa, and advance our understanding of biodiversity, phylogeny, evolution and development towards phylogenetically more accurate taxonomic classifications.

Fine-Scale Spatial Patterns of the Genetic Diversity of European Beech (Fagus sylvatica L.) around a Mountainous Glacial Refugium in the SW Balkans

Beech (Fagus sylvatica L.) is one of the most important forest trees in Europe and its current broad expanse over the continent is believed to be the outcome of the Holocene postglacial expansion of lineages originating from different glacial refugia. Studies using gene markers, pollen profiles and fossils suggest the main locations of glacial refugia in Southern Europe. In this study, we conduct a fine-scale genetic study on the beech populations surrounding the Almopia basin, an area that is said to have hosted one of the main European glacial refugia for several plant and animal species during the Pleistocene Epoch. We test the hypothesis of the existence of a local refugium in the study area for beech to understand the spatial genetic pattern of the putative refugial beech populations in the area and to investigate possible genetic connections between the local beech populations and the European expansion of the species. The genetic diversity of 100 sampled trees in 20 plots representing the expansion of beech in the area was studied using chloroplast and nuclear DNA microsatellites (cpSSR and nSSR, respectively). All three cpSSR regions were polymorphic, resulting in eight haplotypes, separated spatially in two distinct groups (one on the western and the other on the eastern part of the Almopia basin) that correspond to two different postglacial beech lineages. Furthermore, the cpSSR sequences of the eastern lineage are genetically identical to those of beech populations extending over central and northern Europe. The nSSR markers were highly polymorphic, and the trees studied were separated into two genetic groups that coincided with the cpSSR ones in locations where the topography is more pronounced. These results indicated that the Almopia region was indeed a major refugium for beech that possibly produced two main postglacial lineages for Europe, one of which is connected with the majority of beech populations growing on the continent. These southern refugial populations are important diversity centers that need to be the subject of special management and conservation.

Genetic Structure of Perch Perca Fluviatilis (L.) Populations in Latvian Rivers that are Fragmented (Daugava) and Non-Fragmented (Lielupe) By Hydroelectric Dams

Water ecosystems have an important role in maintenance of biological diversity and environmental quality in Latvia. Fish resources are one of the most valuable biological resources in Latvia. To evaluate the influence of economic activity (anthropogenic influence of cities, hydroelectric power stations) on freshwater ecosystems, the genetic structure of perch Perca fluviatilis (L.) populations in Daugava River and Lielupe River was studied. The genetic structure of the perch populations from Daugava River and Lielupe River was investigated using 9 DNA microsatellites (Pfla L4, Pfla L10, Pfla L2, Pfla L6, YP111, YP78, YP60, Svi L10, Svi L7), and by genetic diversity, the level of polymorphism, means of alleles per locus, observed and expected heterozygosity, and population structuring. It was shown that the perch population in the Daugava River in the territory of Riga was significantly different from the other populations and there was a lower level of heterozygosity in this population. In the Daugava River, genetic differentiation was significant for fish populations between Ķegums Hydroelectric Power Plant (HPP) and Riga HPP reservoirs due to the fragmentation of population by HPP dams.

Monitoring for the genetic structure of Mezen breed of horses in terms of DNA microsatellites

Mezenskaya horse (Mezenka) is Russia’s aboriginal breed. It is a domestic selection in the northern territories of Arkhangelsk region. The breed is perfectly adapted to the conditions of the Far North, and has a number of valuable economic and biological qualities. At present, it has a limited gene pool and is bred only in the Mezensky district, where one gene pool-breeding farm is operating and so is a number of basic farms, where selection and breeding activities take place with the breed. Due to a small population of Mezen horses, the challenge of preserving its intra-breed diversity is very urgent. To determine the degree of genetic variability in the Mezen population, the alleles-fond was monitored. A comparative analysis of the genetic structure of the breed was done on DNA microsatellites at time-intervals of 10 years (2000, 2010 and 2020). Crista samples of 198 horses were studied in specialized laboratories. It was established that the breed has wide genetic diversity in 17 loci of nuclear DNA. The population’s alleles-fond includes from 128, 139, and 133 alleles respectively (with an average value of 7.53, 8.18, and 7.82 alleles per locus). The most common alleles are AHT4O, AHT5N, ASB2K, ASB23S, CA425N, HMS1J, HMS1M, HMS2H, HMS3M, HMS7L, HTG4M, HTG6O, HTG7K, HTG7O and LEX3M. Mezen horses revealed 6 rare, lowfrequency (0.004–0.056) alleles not found in the horse populations of domestic selection. The average value of the polymorphic level (Ae) in the breed over the years is 4.16, 4.21 and 4.06, respectively. The highest polymorphism is found in locus ASB17 (6.49–6.90–6.76); the lowest, in locus HTG6 (1.71–1.66–1.67) and HMS7 (1.77–1.95–1.77). A slight deficit of heterozygous genotypes (Fis = 0.003) was observed in Mezen horses in 2010. In 2000 and 2020, the observed heterozygosity (Ho) exceeds the expected value (He), which indicates the absence of intra-population inbreeding (Fis = –0.014 and –0.011, respectively). The results obtained testify to the effectiveness of breeding activities carried out to preserve, improve and maintain genetic diversity in the population.

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging

Nearly 50 hereditary diseases result from the inheritance of abnormally long repetitive DNA microsatellites. While it was originally believed that the size of inherited repeats is the key factor in disease development, it has become clear that somatic instability of these repeats throughout an individual’s lifetime strongly contributes to disease onset and progression. Importantly, somatic instability is commonly observed in terminally differentiated, postmitotic cells, such as neurons. To unravel the mechanisms of repeat instability in nondividing cells, we created an experimental system to analyze the mutability of Friedreich’s ataxia (GAA)n repeats during chronological aging of quiescent Saccharomyces cerevisiae. Unexpectedly, we found that the predominant repeat-mediated mutation in nondividing cells is large-scale deletions encompassing parts, or the entirety, of the repeat and adjacent regions. These deletions are caused by breakage at the repeat mediated by mismatch repair (MMR) complexes MutSβ and MutLα and DNA endonuclease Rad1, followed by end-resection by Exo1 and repair of the resulting double-strand breaks (DSBs) via nonhomologous end joining. We also observed repeat-mediated gene conversions as a result of DSB repair via ectopic homologous recombination during chronological aging. Repeat expansions accrue during chronological aging as well—particularly in the absence of MMR-induced DSBs. These expansions depend on the processivity of DNA polymerase δ while being counteracted by Exo1 and MutSβ, implicating nick repair. Altogether, these findings show that the mechanisms and types of (GAA)n repeat instability differ dramatically between dividing and nondividing cells, suggesting that distinct repeat-mediated mutations in terminally differentiated somatic cells might influence Friedreich’s ataxia pathogenesis.

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics.

Genotypical structure of egg hens by DNA microsatellites

The character of genotypic polymorphism of five industrial egg crosses of hens for five microsatellite DNA loci was analyzed. For the studied loci, 157 different genotypic variants were identified. Industrial crosses of domestic chicken Gallus domesticus significantly differed in the distribution of genotypes for all studied microsatellite loci (P <0.001). The largest number of genotypes was found in brown crosses. For loci ADL268 and LEI094, individuals of the Hisex Brown cross were the most polymorphic, while for others, Lohmann Brown. The most common among the studied birds is the genotype MCW0248213/213 (found in 129 individuals). The same genotype is most often found in the Lohmann White cross (77 individuals). In the bird of the Lohmann Brown and Hi-Line W-98 crosses, the MCW0248213/217 allele is most represented (23 and 10 individuals, respectively), in the Hisex White - MCW0248215/219 (42 individuals). Hisex Brown has the most represented genotypes MCW0248215/221 and MCW0248221/221 (in 13 individuals each). Rare genotypes were found in all of the studied crosses, with the exception of genotypes, which occurred only once (Ng1) in the Hisex white cross. Out of 136 such genotypes, 73 occurred only once, and 63 met 2 times. The largest number of rare genotypes was recorded in brown crosses at the LEI094 and MCW0248 loci. In general, 92 unique genotypes were identified in the studied crosses. Of these, 5 were registered at the ADL268 locus only in the Hisex Brown cross. At the locus MCW0216, 14 unique genotypes were identified: among hens of the Hisex brown cross – 7, Lohmann brown – 5, Lohmann white and Hy-Line W-98 – one such genotype, among individuals of the Hisex cross white - not detected. Unique genotypes for the LEI094 locus were identified 31 times. Among the individuals of the Lohmann brown and Hisex brown crosses, 12 such genotypes were recorded, and among the hens of the Lohmann white cross – 4. The Lohmann White cross showed a high level of consolidation for certain genotypes for each of the studied microsatellite loci. Thus, the ADL0278108/114 genotype was found in 40% of cases, ADL0268108/110 – 50%, LEI094259/259 – 58%, MCW248213/213 – 77% and MCW216137/137 – 84%. Moreover, the last 3 are homozygous.

Strong Gene Flow Undermines Local Adaptations in a Host Parasite System

The co-evolutionary pathways followed by hosts and parasites strongly depend on the adaptive potential of antagonists and its underlying genetic architecture. Geographically structured populations of interacting species often experience local differences in the strength of reciprocal selection pressures, which can result in a geographic mosaic of co-evolution. One example of such a system is the boreo-montane social wasp Polistes biglumis and its social parasite Polistes atrimandibularis, which have evolved local defense and counter-defense mechanisms to match their antagonist. In this work, we study spatial genetic structure of P. biglumis and P. atrimandibularis populations at local and regional scales in the Alps, by using nuclear markers (DNA microsatellites, AFLP) and mitochondrial sequences. Both the host and the parasite populations harbored similar amounts of genetic variation. Host populations were not genetically structured at the local scale, but geographic regions were significantly differentiated from each other in both the host and the parasite in all markers. The net dispersal inferred from genetic differentiation was similar in the host and the parasite, which may be due to the annual migration pattern of the parasites between alpine and lowland populations. Thus, the apparent dispersal barriers (i.e., high mountains) do not restrict gene flow as expected and there are no important gene flow differences between the species, which contradict the hypothesis that restricted gene flow is required for local adaptations to evolve.