BACKGROUND: Whole exome sequencing (WES) and whole genome sequencing (WGS) have become standard methods in human clinical diagnostics as well as in population genomics (POPGEN). Blood-derived genomic DNA (gDNA) is routinely used in the clinical environment. Conversely, many POPGEN studies and commercial tests benefit from easy saliva sampling. Here, we evaluated the quality of variant call sets and the level of genotype concordance of single nucleotide variants (SNVs) and small insertions and deletions (indels) for WES and WGS using paired blood- and saliva-derived gDNA isolates employing genomic reference-based validated protocols. METHODS: The genomic reference standard Coriell NA12878 was repeatedly analyzed using optimized WES and WGS protocols, and data calls were compared with the truth dataset published by the Genome in a Bottle Consortium. gDNA was extracted from the paired blood and saliva samples of 10 participants and processed using the same protocols. A comparison of paired blood-saliva call sets was performed in the context of WGS and WES genomic reference-based technical validation results. RESULTS: The quality pattern of called variants obtained from genomic-reference-based technical replicates correlates with data calls of paired blood-saliva-derived samples in all levels of tested examinations despite a higher rate of non-human contamination found in the saliva samples. The F1 score of 10 blood-to-saliva-derived comparisons ranged between 0.8030-0.9998 for SNVs and between 0.8883-0.9991 for small-indels in the case of the WGS protocol, and between 0.8643-0.999 for SNVs and between 0.7781-1.000 for small-indels in the case of the WES protocol. CONCLUSION: Saliva may be considered an equivalent material to blood for genetic analysis for both WGS and WES under strict protocol conditions. The accuracy of sequencing metrics and variant-detection accuracy is not affected by choosing saliva as the gDNA source instead of blood but much more significantly by the genomic context, variant types, and the sequencing technology used.
- MeSH
- DNA genetika MeSH
- exom MeSH
- genom lidský MeSH
- genomika MeSH
- lidé MeSH
- metagenomika * MeSH
- sekvenování celého genomu MeSH
- sekvenování exomu MeSH
- sliny * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Anacanthorus (Anacanthorinae) is one of the most speciose and common genera of neotropical monogeneans, yet there are still many gaps in our knowledge concerning their diversity and phylogeny. We performed phylogenetic analyses of molecular sequences in order to investigate the phylogenetic position within the Dactylogyridae of Anacanthorus spp. infesting serrasalmids from two Brazilian river basins. Sequences of partial 28S rDNA obtained for nine species of Anacanthorus and Mymarothecium viatorum parasitizing serrasalmids and the published sequences of other members of the Dactylogyridae were included in the phylogenetic reconstruction. Phylogenetic analyses supported the monophyly of anacanthorine monogeneans. The Anacanthorinae (represented in this study by Anacanthorus spp.) formed a monophyletic group included in a large clade together with a group of solely freshwater Ancyrocephalinae and species of the Ancylodiscoidinae. Mymarothecium viatorum (Ancyrocephalinae) was placed within the clade of freshwater Ancyrocephalinae. The phylogenetic analyses indicated that the relationships among species of Anacanthorus reflect those of their serrasalmid hosts: the first subgroup includes a species specific to hosts assigned to Piaractus, a member of the "pacus" lineage; the second subgroup includes a species parasitizing the "Myleus-like pacus" lineage; and the third subgroup includes species parasitizing the lineage of the "true piranhas". We suggest that Anacanthorus and their serrasalmid hosts can be considered a useful model to assess host-parasite biogeography and coevolution in the neotropics. However, future studies focusing on a wider spectrum of host species and their specific Anacanthorus spp. are needed in order to investigate coevolution in this highly diversified system.
- MeSH
- Characiformes parazitologie MeSH
- DNA helmintů genetika MeSH
- druhová specificita MeSH
- fylogeneze * MeSH
- nemoci ryb parazitologie MeSH
- ribozomální DNA genetika MeSH
- sekvenční analýza DNA MeSH
- Trematoda klasifikace MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Brazílie MeSH
Two amoeboid organisms of the genera Sappinia Dangeard, 1896 and Rosculus Hawes, 1963 were identified in a sample containing king penguin guano. This sample, collected in the Subantarctic, enlarges the list of fecal habitats known for the presence of coprophilic amoebae. The two organisms were co-isolated and subcultured for over 6 mo, with continuous efforts being invested to separate each one from the mixed culture. In the mixed culture, Rosculus cells were fast growing, tolerated changes in culturing conditions, formed cysts, and evidently were attracted by Sappinia trophozoites. The separation of the Rosculus strain was accomplished, whereas the Sappinia strain remained intermixed with inseparable Rosculus cells. Sappinia cell populations were sensitive to changes in culturing conditions; they improved with reduction of Rosculus cells in the mixed culture. Thick-walled cysts, reportedly formed by Sappinia species, were not seen. The ultrastructure of both organisms was congruent with the currently accepted generic characteristics; however, some details were remarkable at the species level. Combined with the results of phylogenetic analyses, our findings indicate that the ultrastructure of the glycocalyx and the presence/absence of the Golgi apparatus in differential diagnoses of Sappinia species require a critical re-evaluation.
- MeSH
- Amoebozoa klasifikace genetika izolace a purifikace ultrastruktura MeSH
- Cercozoa klasifikace genetika izolace a purifikace ultrastruktura MeSH
- ekosystém MeSH
- feces parazitologie MeSH
- fylogeneze MeSH
- Spheniscidae parazitologie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Georgia MeSH
A novel species of aseptate eugregarine, Ganymedes yurii sp. n., is described using microscopic and molecular approaches. It inhabits the intestine of Gondogeneia sp., a benthic amphipod found along the shore of James Ross Island, Weddell Sea, Antarctica. The prevalence of the infection was very low and only a few caudo-frontal syzygies were found. Morphologically, the new species is close to a previously described amphipod gregarine, Ganymedes themistos, albeit with several dissimilarities in the structure of the contact zone between syzygy partners, as well as other characteristics. Phylogenetic analysis of the 18S rDNA from G. yurii supported a close relationship between these species. These two species were grouped with other gregarines isolated from crustaceans hosts (Cephaloidophoroidea); however, statistical support throughout the clade of Cephaloidophoroidea gregarines was minimal using the available dataset.
- MeSH
- Amphipoda parazitologie MeSH
- Apicomplexa klasifikace genetika ultrastruktura MeSH
- fylogeneze MeSH
- mikroskopie MeSH
- protozoální DNA genetika MeSH
- ribozomální DNA genetika MeSH
- RNA ribozomální 18S genetika MeSH
- sekvence nukleotidů MeSH
- sekvenční analýza DNA MeSH
- transmisní elektronová mikroskopie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Antarktida MeSH
BACKGROUND: The gibel carp is a fish species with dual reproduction modes, gynogenesis and sexual reproduction, coexisting in mixed diploid-polyploid populations. Following the Red Queen (RQ) assumption, asexual organisms are, due to their low genetic diversity, targets for parasite adaptation. Because MHC polymorphism is maintained by selection from parasites and sexual selection, MHC genes are considered as a suitable candidate for testing the RQ hypothesis. In this study, we investigated MHC variability and the selection pressure acting on MHC genes in sexual diploids and asexual triploids. In addition, we tested whether the asexual form of gibel carp suffers from higher parasite loads than the sexual form. RESULTS: At the population level, genotype and allelic diversity of MHC were reduced in gynogenetic triploids when compared to sexual diploids. Different patterns in positively selected sites (PSS) between gynogens and sexual gibel carp were also found. A weak difference in parasite species richness was found between sexual fish and gynogens. However, two common clones of gynogens were significantly more parasitized than sexual diploids or other gynogens with rare MHC genotypes. At the individual level, the higher number of alleles was not associated with higher parasitism in either sexual diploids or gynogens. CONCLUSIONS: The differences in MHC diversity between gynogenetic triploids and sexual diploids are in accordance with the hypothesis of sexually-mediated selection increasing MHC diversity and fulfil a prerequisite of the Red Queen hypothesis. The different patterns in PSS between gynogens and sexual gibel carp also suggest the potential role of sexual selection and supports parasite-mediated selection maintaining MHC diversity. We showed that the most common MHC genotypes of gynogenetic triploids are the target of parasite selection. Our results suggest that the MHC genotype in gibel carp is more important than allelic number for immunocompetence.
A reduction of epidermal club cells and an increase of goblet cells were found in Carassius gibelio during spawning when compared to postspawning. A significantly lower proportion of club cells at spawning was found in diploid males and triploid females than in diploid females. It could be linked to male efforts to avoid a fright reaction and the potential adoption of this strategy by gynogenetic females, or alternatively to a higher parasite infection or immunosuppression during spawning.
- MeSH
- epidermis cytologie MeSH
- kapři anatomie a histologie genetika fyziologie MeSH
- ploidie MeSH
- pohlavní dimorfismus MeSH
- rozmnožování fyziologie MeSH
- sexuální chování zvířat MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH