Genetic diversity is a core aspect of biodiversity that is increasingly being considered in global conservation policy. However, genetic data are lacking for most species. Monitoring and reporting ...genetic diversity trends and developing conservation policies that are generalizable across species is therefore difficult.Macrogenetics is an emerging field that leverages publicly archived genetic data to understand patterns of genetic diversity and drivers of change in hundreds to thousands of species at regional to global extents. Macrogenetics offers new opportunities to fill data gaps for conservation.We discuss the most promising paths for conservation macrogenetics to support new policies adopted for genetic diversity by providing essential goals for research and data infrastructure, and technological pathways for monitoring genetic biodiversity in natural wildlife populations.
Genetic biodiversity is rapidly gaining attention in global conservation policy. However, for almost all species, conservation relevant, population-level genetic data are lacking, limiting the extent to which genetic diversity can be used for conservation policy and decision-making. Macrogenetics is an emerging discipline that explores the patterns and processes underlying population genetic composition at broad taxonomic and spatial scales by aggregating and reanalyzing thousands of published genetic datasets. Here we argue that focusing macrogenetic tools on conservation needs, or conservation macrogenetics, will enhance decision-making for conservation practice and fill key data gaps for global policy. Conservation macrogenetics provides an empirical basis for better understanding the complexity and resilience of biological systems and, thus, how anthropogenic drivers and policy decisions affect biodiversity.
Genetic biodiversity is rapidly gaining attention in global conservation policy. However, for almost all species, conservation relevant, population-level genetic data are lacking, limiting the extent to which genetic diversity can be used for conservation policy and decision-making. Macrogenetics is an emerging discipline that explores the patterns and processes underlying population genetic composition at broad taxonomic and spatial scales by aggregating and reanalyzing thousands of published genetic datasets. Here we argue that focusing macrogenetic tools on conservation needs, or conservation macrogenetics, will enhance decision-making for conservation practice and fill key data gaps for global policy. Conservation macrogenetics provides an empirical basis for better understanding the complexity and resilience of biological systems and, thus, how anthropogenic drivers and policy decisions affect biodiversity.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Zika virus has recently been shown to be associated with severe birth defects. The virus’s E protein mediates its ability to infect cells and is also the primary target of the antibodies that are ...elicited by natural infection and vaccines that are being developed against the virus. Therefore, determining the effects of mutations to this protein is important for understanding its function, its susceptibility to vaccine-mediated immunity, and its potential for future evolution. We completely mapped how amino acid mutations to the E protein affected the virus’s ability to grow in cells in the laboratory and escape from several antibodies. The resulting maps relate changes in the E protein’s sequence to changes in viral function and therefore provide a valuable complement to existing maps of the physical structure of the protein.
Functional constraints on viral proteins are often assessed by examining sequence conservation among natural strains, but this approach is relatively ineffective for Zika virus because all known sequences are highly similar. Here, we take an alternative approach to map functional constraints on Zika virus’s envelope (E) protein by using deep mutational scanning to measure how all amino acid mutations to the E protein affect viral growth in cell culture. The resulting sequence-function map is consistent with existing knowledge about E protein structure and function but also provides insight into mutation-level constraints in many regions of the protein that have not been well characterized in prior functional work. In addition, we extend our approach to completely map how mutations affect viral neutralization by two monoclonal antibodies, thereby precisely defining their functional epitopes. Overall, our study provides a valuable resource for understanding the effects of mutations to this important viral protein and also offers a roadmap for future work to map functional and antigenic selection to Zika virus at high resolution.
IMPORTANCE
Zika virus has recently been shown to be associated with severe birth defects. The virus’s E protein mediates its ability to infect cells and is also the primary target of the antibodies that are elicited by natural infection and vaccines that are being developed against the virus. Therefore, determining the effects of mutations to this protein is important for understanding its function, its susceptibility to vaccine-mediated immunity, and its potential for future evolution. We completely mapped how amino acid mutations to the E protein affected the virus’s ability to grow in cells in the laboratory and escape from several antibodies. The resulting maps relate changes in the E protein’s sequence to changes in viral function and therefore provide a valuable complement to existing maps of the physical structure of the protein.
Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis ...of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues.
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BFBNIB, NMLJ, NUK, PNG, SAZU, UL, UM, UPUK
While insomnia is the second most common mental disorder, progress in our understanding of underlying neurobiological mechanisms has been limited. The present review addresses the definition and ...prevalence of insomnia and explores its subjective and objective characteristics across the 24-hour day. Subsequently, the review extensively addresses how the vulnerability to develop insomnia is affected by genetic variants, early life stress, major life events, and brain structure and function. Further supported by the clear mental health risks conveyed by insomnia, the integrated findings suggest that the vulnerability to develop insomnia could rather be found in brain circuits regulating emotion and arousal than in circuits involved in circadian and homeostatic sleep regulation. Finally, a testable model is presented. The model proposes that in people with a vulnerability to develop insomnia, the locus coeruleus is more sensitive to—or receives more input from—the salience network and related circuits, even during rapid eye movement sleep, when it should normally be sound asleep. This vulnerability may ignite a downward spiral of insufficient overnight adaptation to distress, resulting in accumulating hyperarousal, which, in turn, impedes restful sleep and moreover increases the risk of other mental health adversity. Sensitized brain circuits are likely to be subjectively experienced as “sleeping with one eye open”. The proposed model opens up the possibility for novel intervention studies and animal studies, thus accelerating the ignition of a neuroscience of insomnia, which is direly needed for better treatment.
Haig H. Kazazian, Jr. (1937–2022) Antonarakis, Stylianos E.; Orkin, Stuart H.
Genome research,
04/2022, Volume:
32, Issue:
4
Journal Article
Peer reviewed
Open access
An obituary for Dr. Haig H. Kazazian Jr who died on Jan 20, 2022 is presented. He was a towering figure in human molecular genetics, and his research contributions and academic mentorship transformed ...our understanding of the causative role of the genetic variation in phenotypic variation.
Aim
Intraspecific genetic diversity is one of the pillars of biodiversity, supporting the resilience and evolutionary potential of populations. Yet, our knowledge regarding the patterns of genetic ...diversity at macroecological scales, so‐called macrogenetic patterns, remains scarce, particularly in marine species. Marine habitat‐forming (MHF) species are key species in some of the most diverse but also most impacted marine ecosystems, such as coral reefs and marine forests. We characterize the patterns and drivers of genetic diversity in MHF species and provide a macrogenetic baseline, which can be used for conservation planning and for future genetic monitoring programmes.
Location
Global.
Time period
Contemporary.
Major taxa studied
Bryozoans, hexacorals, hydrozoans, octocorals, seagrasses, seaweeds, sponges.
Methods
We analysed a database including genetic diversity estimates based on microsatellites in more than 9,000 georeferenced populations from 140 species, which belong to seven animal and plant taxa. Focusing on expected heterozygosity, we used generalized additive models to test the effect of latitude, taxon, and conservation status. We tested the correlation between the species richness and the genetic diversity.
Results
We reveal a significant but complex biogeographic pattern characterized by a bimodal latitudinal trend influenced by taxonomy. We also report a positive species genetic diversity correlation at the scale of the ecoregions. The difference in genetic diversity between protected and unprotected areas was not significant.
Main conclusions
The contrasting results between MHF animals and plants suggest that the latitudinal genetic diversity patterns observed in MHF species are idiosyncratic, as reported in terrestrial species. Our results support the existence of shared drivers between genetic and species diversities, which remain to be formally identified. Concerning, these macrogenetic patterns are not aligned from the existing network of marine protected areas. Providing the first macrogenetic baseline in MHF species, this study echoes the call regarding the need to consider genetic diversity in biodiversity assessments and management.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Rapid evolution of porcine reproductive and respiratory syndrome virus (PRRSV) is the bottleneck for effective prevention and control of PRRS. Thus, understanding the prevalence and genetic ...background of PRRSV strains in swine-producing regions is important for disease prevention and control. However, there is only limited information about the epizootiological situation of PRRS in the Xinjiang Uygur Autonomous Region, China. In this study, blood or lung tissue samples were collected from 1,411 PRRS-suspected weaned pigs from 9 pig farms in Changji, Shihezi, and Wujiaqu cities between 2020 and 2022. The samples were first tested by RT-quantitative PCR, yielding a PRRSV-2 positive rate of 53.6%. Subsequently, 36 PRRSV strains were isolated through initial adaptation in bone marrow-derived macrophages followed by propagation in grivet monkey Marc-145 cells. Furthermore, 28 PRRSV-positive samples and 20 cell-adapted viruses were selected for high-throughput sequencing (HTS) to obtain the entire PRRSV genome sequences. Phylogenetic analysis based on the nucleotide sequences of the ORF5 gene of the PRRSV strains identified in this study grouped into sub-lineages 1.8 and 8.7 the former being the dominant strain currently circulating in Xinjiang. However, the NSP2 proteins of the Xinjiang PRRSV strains shared the same deletion patterns as sub-lineage 1.8 prototype strain NADC30 with the exception of 4 strains carrying 2-3 additional amino acid deletions. Further analysis confirmed that recombination events had occurred in 27 of 37 PRRSVs obtained here with the parental strains belonging to sub-lineages 1.8 and 8.7, lineages 3 and 5, with the recombination events having occurred most frequently in the 5' and 3' termini of ORF1a and 5' terminus of ORF1b.
Bread wheat (Triticum aestivum) is a globally important crop, accounting for 20 per cent of the calories consumed by humans. Major efforts are underway worldwide to increase wheat production by ...extending genetic diversity and analysing key traits, and genomic resources can accelerate progress. But so far the very large size and polyploid complexity of the bread wheat genome have been substantial barriers to genome analysis. Here we report the sequencing of its large, 17-gigabase-pair, hexaploid genome using 454 pyrosequencing, and comparison of this with the sequences of diploid ancestral and progenitor genomes. We identified between 94,000 and 96,000 genes, and assigned two-thirds to the three component genomes (A, B and D) of hexaploid wheat. High-resolution synteny maps identified many small disruptions to conserved gene order. We show that the hexaploid genome is highly dynamic, with significant loss of gene family members on polyploidization and domestication, and an abundance of gene fragments. Several classes of genes involved in energy harvesting, metabolism and growth are among expanded gene families that could be associated with crop productivity. Our analyses, coupled with the identification of extensive genetic variation, provide a resource for accelerating gene discovery and improving this major crop. PUBLICATION ABSTRACT
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DOBA, IJS, IZUM, KILJ, KISLJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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