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- Richards, Stephen, et al.
(författare)
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Genome Sequence of the Pea Aphid Acyrthosiphon pisum
- 2010
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 8:2, s. e1000313-
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Tidskriftsartikel (refereegranskat)abstract
- Aphids are important agricultural pests and also biological models for studies of insect-plant interactions, symbiosis, virus vectoring, and the developmental causes of extreme phenotypic plasticity. Here we present the 464 Mb draft genome assembly of the pea aphid Acyrthosiphon pisum. This first published whole genome sequence of a basal hemimetabolous insect provides an outgroup to the multiple published genomes of holometabolous insects. Pea aphids are host-plant specialists, they can reproduce both sexually and asexually, and they have coevolved with an obligate bacterial symbiont. Here we highlight findings from whole genome analysis that may be related to these unusual biological features. These findings include discovery of extensive gene duplication in more than 2000 gene families as well as loss of evolutionarily conserved genes. Gene family expansions relative to other published genomes include genes involved in chromatin modification, miRNA synthesis, and sugar transport. Gene losses include genes central to the IMD immune pathway, selenoprotein utilization, purine salvage, and the entire urea cycle. The pea aphid genome reveals that only a limited number of genes have been acquired from bacteria; thus the reduced gene count of Buchnera does not reflect gene transfer to the host genome. The inventory of metabolic genes in the pea aphid genome suggests that there is extensive metabolite exchange between the aphid and Buchnera, including sharing of amino acid biosynthesis between the aphid and Buchnera. The pea aphid genome provides a foundation for post-genomic studies of fundamental biological questions and applied agricultural problems.
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| 6. |
- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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- Fiuza-Luces, C, et al.
(författare)
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Is the ACE I/D polymorphism associated with extreme longevity? A study on a Spanish cohort
- 2011
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Ingår i: Journal of the renin-angiotensin-aldosterone system : JRAAS. - : Hindawi Limited. - 1752-8976 .- 1470-3203. ; 12:3, s. 202-207
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Tidskriftsartikel (refereegranskat)abstract
- The 287 bp Ins(I)/Del(D) polymorphism [rs1799752] in intron 16 of the angiotensin-converting enzyme ( ACE) gene has been associated with extreme longevity (≥ 100 years) in some Caucasian and Asian cohorts, but this finding was not corroborated in other reports. We compared the allelic/genotypic frequency of the ACE I/D polymorphism among centenarians ( N = 64, 100—108 years, 89.1% female) and nonagenarians ( N = 47, 90—97 years, 76.6% female), and a control group of healthy young adults ( n = 434, age 20—40 years, 50% female). All participants were of the same Caucasian (Spanish) descent. The ACE I/D genotype met Hardy—Weinberg expectations in all the cohorts. Allelic and genotypic frequencies did not differ by sex in any of the study groups (all p > 0.2). There were no differences in allelic or genotypic frequencies between groups, for example the frequency of the D allele was 62.3% in controls vs. 65.3% in the elderly (64.8% in centenarians). In summary, the ACE I/D polymorphism is not significantly associated with extreme longevity in the Spanish population. Further research is, however, necessary using other approaches. It also remains to be determined if the interaction of ACE genotypes with some other genetic variants exerts a potential effect on longevity.
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- Johnston, Jennifer J., et al.
(författare)
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Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
- 2010
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 31:10, s. 1142-1154
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Tidskriftsartikel (refereegranskat)abstract
- A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
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- Lucia, A, et al.
(författare)
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Elite athletes: are the genes the champions?
- 2010
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Ingår i: International journal of sports physiology and performance. - : Human Kinetics. - 1555-0265 .- 1555-0273. ; 5:1, s. 98-102
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Tidskriftsartikel (refereegranskat)abstract
- Recent research has analyzed the genetic factors that influence world-class athletic status. Much of what we know comes from association studies, with the ACE I/D and ACTN3 R577X polymorphisms having been extensively studied. The association between the ACTN3 R577X variation and elite athlete status in power sports is strongly documented, yet whether the current body of knowledge on other variants can be extrapolated to athletic champion status remains to be determined. Athletic champion status is a complex polygenic trait in which numerous candidate genes, complex gene–gene interactions, and environment–gene interactions are involved. Besides the need for more studies and new approaches taking into account the complexity of the problem, we believe that factors beyond genetic endowment are likely to have a stronger influence in the attainment of athletic champion status.
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- Lønborg, C., et al.
(författare)
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A global database of dissolved organic matter (DOM) concentration measurements in coastal waters (CoastDOM v1)
- 2024
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Ingår i: Earth System Science Data. - : Copernicus Publications. - 1866-3508 .- 1866-3516. ; 16:2, s. 1107-1119
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Tidskriftsartikel (refereegranskat)abstract
- Measurements of dissolved organic carbon (DOC), nitrogen (DON), and phosphorus (DOP) concentrations are used to characterize the dissolved organic matter (DOM) pool and are important components ofbiogeochemical cycling in the coastal ocean. Here, we present the first edition of a global database (CoastDOMv1; available at https://doi.org/10.1594/PANGAEA.964012, Lønborg et al., 2023) compiling previously published and unpublished measurements of DOC, DON, and DOP in coastal waters. These data are complementedby hydrographic data such as temperature and salinity and, to the extent possible, other biogeochemical variables(e.g. chlorophyll a, inorganic nutrients) and the inorganic carbon system (e.g. dissolved inorganic carbon andtotal alkalinity). Overall, CoastDOM v1 includes observations of concentrations from all continents. However,most data were collected in the Northern Hemisphere, with a clear gap in DOM measurements from the SouthernHemisphere. The data included were collected from 1978 to 2022 and consist of 62 338 data points for DOC,20 356 for DON, and 13 533 for DOP. The number of measurements decreases progressively in the sequenceDOC > DON > DOP, reflecting both differences in the maturity of the analytical methods and the greater focuson carbon cycling by the aquatic science community. The global database shows that the average DOC concentration in coastal waters (average ± standard deviation (SD): 182±314 µmolC L−1; median: 103 µmolC L−1) is13-fold higher than the average coastal DON concentration (13.6 ± 30.4 µmol N L−1; median: 8.0 µmol N L−1),which is itself 39-fold higher than the average coastal DOP concentration (0.34 ± 1.11 µmol P L−1; median:0.18 µmol P L−1). This dataset will be useful for identifying global spatial and temporal patterns in DOM and willhelp facilitate the reuse of DOC, DON, and DOP data in studies aimed at better characterizing local biogeochemical processes; closing nutrient budgets; estimating carbon, nitrogen, and phosphorous pools; and establishing abaseline for modelling future changes in coastal waters.
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- Meisner, Jeffrey, et al.
(författare)
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Structure of the basal components of a bacterial transporter
- 2012
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Ingår i: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 109:14, s. 5446-5451
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Tidskriftsartikel (refereegranskat)abstract
- Proteins SpoIIQ and SpoIIIAH interact through two membranes to connect the forespore and the mother cell during endospore development in the bacterium Bacillus subtilis. SpoIIIAH consists of a transmembrane segment and an extracellular domain with similarity to YscJ proteins. YscJ proteins form large multimeric rings that are the structural scaffolds for the assembly of type III secretion systems in Gram-negative bacteria. The predicted ring-forming motif of SpoIIIAH and other evidence led to the model that SpoIIQ and SpoIIIAH form the core components of a channel or transporter through which the mother cell nurtures forespore development. Therefore, to understand the roles of SpoIIIAH and SpoIIQ in channel formation, it is critical to determine whether SpoIIIAH adopts a ring-forming structural motif, and whether interaction of SpoIIIAH with SpoIIQ would preclude ring formation. We report a 2.8-angstrom resolution structure of a complex of SpoIIQ and SpoIIIAH. SpoIIIAH folds into the ring-building structural motif, and modeling shows that the structure of the SpoIIQ-SpoIIIAH complex is compatible with forming a symmetrical oligomer that is similar to those in type III systems. The inner diameters of the two most likely ring models are large enough to accommodate several copies of other integral membrane proteins. SpoIIQ contains a LytM domain, which is found in metalloendopeptidases, but lacks residues important for metalloprotease activity. Other LytM domains appear to be involved in protein-protein interactions. We found that the LytM domain of SpoIIQ contains an accessory region that interacts with SpoIIIAH.
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- Ruiz, JR, et al.
(författare)
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Can we identify a power-oriented polygenic profile?
- 2010
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Ingår i: Journal of applied physiology (Bethesda, Md. : 1985). - : American Physiological Society. - 1522-1601 .- 8750-7587. ; 108:3, s. 561-566
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Tidskriftsartikel (refereegranskat)abstract
- Using the model originally developed by Williams and Folland ( J Physiol 586: 113–121, 2008), we determined 1) a “total genotype score” (TGS, from the accumulated combination of the 6 polymorphisms, with a maximum value of “100” for the theoretically optimal polygenic score) in a group of elite power athletes, endurance athletes, and nonathletic controls, and 2) the probability for the occurrence of Spanish individuals with the “perfect” power-oriented profile (i.e., TGS = 100). We analyzed six polymorphism that are candidates to explain individual variations in elite power athletic status or power phenotypes ( ACE I/D, ACTN3 R577X, AGT Met235Thr, GDF-8 K153R, IL6 −174 G/C, and NOS3 −786T>C) in 53 elite track and field power athletes (jumpers, sprinters), 100 nonathletic controls, and 100 elite endurance athletes (distance runners and road cyclists) (all Spanish Caucasian males). The mean TGS was significantly higher in power athletes (70.8 ± 17.3) compared with endurance athletes (60.4 ± 15.9; P < 0.001) and controls (63.3 ± 13.2; P = 0.012), whereas it did not differ between the latter two groups ( P = 0.366). A total of five power athletes (9.4%, all sprinters) had a theoretically “optimal” TGS of 100 vs. 0 subjects in the other two groups. The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the six candidate polymorphisms we studied was very small, i.e., ∼0.2% (or 1 in 500 Spanish individuals). We have identified a polygenic profile that allows us, at least partly, to distinguish elite power athletes from both endurance athletes and nonathletic population.
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- Tal, Amir, et al.
(författare)
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Using Situation Testing to Document Employment Discrimination Against Persons with Psychiatric Disabilities
- 2009
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Ingår i: Employee relations law journal. - 0098-8898. ; 35:3, s. 40-60
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Tidskriftsartikel (refereegranskat)abstract
- Many individuals with psychiatric disabilities are unemployed or under-employed, with detrimental consequences for their lives and mental health. Although prior research suggests that stigmatization and discrimination contribute to this outcome, the exact extent of such employer behavior has remained largely undetermined. This article reviews the employment situation of persons with psychiatric disabilities, considers traditional ways to analyze the role of discrimination, and proposes situation testing as a new methodology overcoming many limitations of prior research. By rigorously documenting real world discriminatory practices, situation testing can importantly influence public opinion and government policy, as well as change employers' behavior through education or litigation.
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| 44. |
- Wang, Huifen, et al.
(författare)
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Obesity Modifies the Relations Between Serum Markers of Dairy Fats and Inflammation and Oxidative Stress Among Adolescents
- 2011
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Ingår i: Obesity. - : Wiley. - 1930-7381 .- 1930-739X. ; 19:12, s. 2404-2410
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Tidskriftsartikel (refereegranskat)abstract
- Pentadecanoic acid (15: 0) and heptadecanoic acid (17: 0), the dairy-specific saturated fatty acids have been inversely, while inflammation and oxidative stress have been positively related to the risk of cardiovascular disease (CVD). Both fatty acid metabolism and inflammation and oxidative stress may be influenced by adiposity. In the current cross-sectional analyses among adolescents (mean age 15 years), we determined whether overweight status modified the associations between dairy fatty acids (pentadecanoic acid (15: 0) and heptadecanoic acid (17: 0)) represented in serum phospholipids (PL) and markers of inflammation and oxidative stress. Six biomarkers for inflammation and oxidative stress were analyzed, including circulating adiponectin, C-reactive protein (CRP), cytokines interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha), and urinary 15-keto-dihydro-PGF2 alpha (15-keto) and 8-iso-PGF2 alpha (F2-iso). Generalized linear regression analyses, adjusted for age, gender, race, tanner score, total energy intake and physical activity, revealed that PL dairy fatty acids were inversely associated with CRP, F2-iso and 15-keto in overweight, but not in normal weight adolescents (all P(interaction) < 0.05). However, higher level of PL dairy fatty acids was associated with lower IL-6 among all adolescents. Further adjustment for dietary intake of calcium, vitamin D, protein, total flavonoids, and omega-3 fatty acids did not materially change the findings. Dairy-specific saturated fats, i.e., 15: 0 and 17: 0 fatty acids, may contribute to the potential health benefits of dairy products, especially for overweight adolescents.
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