| 1. |
- Andersen, Naja Steen, et al.
(författare)
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Processes affecting genetic structure and conservation: a case study of wild and cultivated Brassica rapa
- 2009
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Ingår i: Genetic Resources and Crop Evolution. - Dordrecht : Springer Science and Business Media LLC. - 0925-9864 .- 1573-5109. ; 56:2, s. 189-200
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Tidskriftsartikel (refereegranskat)abstract
- When planning optimal conservation strategies for wild and cultivated types of a plant species, a number of influencing biological and environmental factors should be considered from the outset. In the present study Brassica rapa was used to illustrate this: to develop Scandinavian conservation strategies for wild and cultivated B. rapa, DNA-marker analysis was performed on 15 cultivated and 17 wild accessions of B. rapa plus 8 accessions of the cross compatible B. napus. The B. rapa cultivars were bred in Sweden and Finland in 1944-1997 and the wild B. rapa material was collected from Denmark, Sweden and United Kingdom. The B. napus accessions were bred within the last 20 years in the Scandinavian countries. Results were based on scoring of 131 polymorphic ISSR markers in the total plant material. A Bayesian Markov chain Monte Carlo (MCMC) approach implemented in NewHybrids demonstrated a clear distinction of B. rapa and B. napus individuals except for three individuals that seemed to be backcrosses. The backcrossed hybrids descended from two Swedish populations, one wild and one escaped. The overall pattern of genetic variation and structure in B. rapa showed that cultivated and wild B. rapa accessions formed two almost separated clusters. Geographical origin and breeding history of cultivars were reflected in these genetic relationships. In addition, wild populations from Denmark and Sweden seemed to be closely related, except for a Swedish population, which seemingly was an escaped cultivar. The study point to that many processes, e.g. spontaneous introgression, naturalisation, breeding and agricultural practise affected the genetic structure of wild and cultivated B. rapa populations.
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| 2. |
- Jorgensen, Rikke Bagger, et al.
(författare)
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The variability of processes involved in transgene dispersal-case studies from Brassica and related genera
- 2009
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Ingår i: Environmental Science and Pollution Research. - : Springer Science and Business Media LLC. - 1614-7499 .- 0944-1344. ; 16:4, s. 389-395
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Forskningsöversikt (refereegranskat)abstract
- Background, aim, and scope We strive to predict consequences of genetically modified plants (GMPs) being cultivated openly in the environment, as human and animal health, biodiversity, agricultural practise and farmers' economy could be affected. Therefore, it is unfortunate that the risk assessment of GMPs is burdened by uncertainty. One of the reasons for the uncertainty is that the GMPs are interacting with the ecosystems at the release site thereby creating variability. This variability, e. g. in gene flow, makes consequence analysis difficult. The review illustrates the great uncertainty of results from gene-flow analysis. Main features Many independent experiments were performed on the individual processes in gene flow. The results comprise information both from laboratory, growth chambers and field trials, and they were generated using molecular or phenotypic markers and analysis of fitness parameters. Monitoring of the extent of spontaneous introgression in natural populations was also performed. Modelling was used as an additional tool to identify key parameters in gene flow. Results The GM plant may affect the environment directly or indirectly by dispersal of the transgene. Magnitude of the transgene dispersal will depend on the GM crop, the agricultural practise and the environment of the release site. From case-to-case these three factors provide a variability that is reflected in widely different likelihoods of transgene dispersal and fitness of introgressed plants. In the present review, this is illustrated through a bunch of examples mostly from our own research on oilseed rape, Brassica napus. In the Brassica cases, the variability affected all five main steps in the process of gene dispersal. The modelling performed suggests that in Brassica, differences in fitness among plant genome classes could be a dominant factor in the establishment and survival of introgressed populations. Discussion Up to now, experimental analyses have mainly focused on studying the many individual processes of gene flow. This can be criticised, as these experiments are normally carried out in widely different environments and with different genotypes, and thus providing bits and pieces difficult to assemble. Only few gene-flow studies have been performed in natural populations and over several plant generations, though this could give a more coherent and holistic view. Conclusion The variability inherent in the processes of gene flow in Brassica is apparent and remedies are wished for. One possibility is to expose the study species to additional experiments and monitoring, but this is costly and will likely not cover all possible scenarios. Another remedy is modelling gene flow. Modelling is a valuable tool in identifying key factors in the gene-flow process for which more knowledge is needed, and identifying parameters and processes which are relatively insensitive to change and therefore require less attention in future collections of data. But the interdependence between models and experimental data is extensive, as models depend on experimental data for their development or testing. Recommendations More and more transgenic varieties are being grown worldwide harbouring genes that might potentially affect the environment ( e. g. drought tolerance, salt tolerance, disease tolerance, pharmaceutical genes). This calls for a thorough risk assessment. However, in Brassica, the limited and uncertain knowledge on gene flow is an obstacle to this. Modelling of gene flow should be optimised, and modelling outputs verified in targeted field studies and at the landscape level. Last but not least, it is important to remember that transgene flow in itself is not necessarily a thread, but it is the consequences of gene flow that may jeopardise the ecosystems and the agricultural production. This emphasises the importance of consequence analysis of genetically modified plants.
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| 3. |
- Martel-Duguech, Luciana Maria, et al.
(författare)
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ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.
- 2021
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Ingår i: European journal of endocrinology. - 1479-683X. ; 184:2, s. 323-334
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Tidskriftsartikel (refereegranskat)abstract
- Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform.1) To record current practice of AGHD management throughout Europe and benchmark it against guidelines; 2) To evaluate educational status of healthcare professionals about AGHD.On-line survey in endocrine centres throughout Europe.Endocrinologists voluntarily completed an electronic questionnaire regarding AGHD patients diagnosed or treated in 2017-2018.Twenty-eight centres from 17 European countries participated, including 2139 AGHD patients, 28% of childhood-onset GHD. Aetiology was most frequently non-functioning pituitary adenoma (26%), craniopharyngioma (13%) and genetic/congenital mid-line malformations (13%). Diagnosis of GHD was confirmed by a stimulation test in 52% (GHRH+arginine, 45%; insulin-tolerance, 42%, glucagon, 6%; GHRH alone and clonidine tests, 7%); in the remaining, ≥3 pituitary deficiencies and low serum IGF-I were diagnostic. Initial GH dose was lower in older patients, but only women <26 years were prescribed a higher dose than men; dose titration was based on normal serum IGF-I, tolerance and side-effects. In one country, AGHD treatment was not approved. Full public reimbursement was not available in four countries and only in childhood-onset GHD in another. AGHD awareness was low among non-endocrine professionals and healthcare administrators. Postgraduate AGHD curriculum training deserves being improved.Despite guideline recommendations, GH replacement in AGHD is still not available or reimbursed in all European countries. Knowledge among professionals and health administrators needs improvement to optimize care of adults with GHD.
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| 4. |
- Parducci, Laura, et al.
(författare)
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Glacial Survival of Boreal Trees in Northern Scandinavia
- 2012
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 335:6072, s. 1083-1086
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Tidskriftsartikel (refereegranskat)abstract
- It is commonly believed that trees were absent in Scandinavia during the last glaciation and first recolonized the Scandinavian Peninsula with the retreat of its ice sheet some 9000 years ago. Here, we show the presence of a rare mitochondrial DNA haplotype of spruce that appears unique to Scandinavia and with its highest frequency to the west-an area believed to sustain ice-free refugia during most of the last ice age. We further show the survival of DNA from this haplotype in lake sediments and pollen of Trondelag in central Norway dating back similar to 10,300 years and chloroplast DNA of pine and spruce in lake sediments adjacent to the ice-free Andoya refugium in northwestern Norway as early as similar to 22,000 and 17,700 years ago, respectively. Our findings imply that conifer trees survived in ice-free refugia of Scandinavia during the last glaciation, challenging current views on survival and spread of trees as a response to climate changes.
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| 5. |
- Parducci, Laura, et al.
(författare)
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Response to Comment on "Glacial Survival of Boreal Trees in Northern Scandinavia"
- 2012
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 338:6108, s. 742-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Birks et al. question our proposition that trees survived the Last Glacial Maximum (LGM) in Northern Scandinavia. We dispute their interpretation of our modern genetic data but agree that more work is required. Our field and laboratory procedures were robust; contamination is an unlikely explanation of our results. Their description of Endletvatn as ice-covered and inundated during the LGM is inconsistent with recent geological literature.
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| 6. |
- Volkov, Petr, et al.
(författare)
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A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits
- 2016
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Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 11:6
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Tidskriftsartikel (refereegranskat)abstract
- Little is known about the extent to which interactions between genetics and epigenetics may affect the risk of complex metabolic diseases and/or their intermediary phenotypes. We performed a genome-wide DNA methylation quantitative trait locus (mQTL) analysis in human adipose tissue of 119 men, where 592,794 single nucleotide polymorphisms (SNPs) were related to DNA methylation of 477,891 CpG sites, covering 99% of RefSeq genes. SNPs in significant mQTLs were further related to gene expression in adipose tissue and obesity related traits. We found 101,911 SNP-CpG pairs (mQTLs) in cis and 5,342 SNP-CpG pairs in trans showing significant associations between genotype and DNA methylation in adipose tissue after correction for multiple testing, where cis is defined as distance less than 500 kb between a SNP and CpG site. These mQTLs include reported obesity, lipid and type 2 diabetes loci, e.g. ADCY3/POMC, APOA5, CETP, FADS2, GCKR, SORT1 and LEPR. Significant mQTLs were overrepresented in intergenic regions meanwhile underrepresented in promoter regions and CpG islands. We further identified 635 SNPs in significant cis-mQTLs associated with expression of 86 genes in adipose tissue including CHRNA5, G6PC2, GPX7, RPL27A, THNSL2 and ZFP57. SNPs in significant mQTLs were also associated with body mass index (BMI), lipid traits and glucose and insulin levels in our study cohort and public available consortia data. Importantly, the Causal Inference Test (CIT) demonstrates how genetic variants mediate their effects on metabolic traits (e.g. BMI, cholesterol, highdensity lipoprotein (HDL), hemoglobin A1c (HbA1c) and homeostatic model assessment of insulin resistance (HOMA-IR)) via altered DNA methylation in human adipose tissue. This study identifies genome-wide interactions between genetic and epigenetic variation in both cis and trans positions influencing gene expression in adipose tissue and in vivo (dys) metabolic traits associated with the development of obesity and diabetes.
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