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Forward genetics

David Shahar, John Evans, Mark G L Sayers
BACKGROUND: The literature implies that large enthesophytes are exclusive to genetically predisposed individuals and to Spondyloarthropathies sufferers. Accordingly, the aim of this investigation and report was to assess the involvement of genetic predisposition, inflammatory and/or mechanical influences in the development of large enthesophytes in a sample population of teenagers presenting with large enthesophytes emanating from the external occipital protuberance. METHODS: Analysis was based on four teenage males (13-16 year-old) possessing 14...
February 12, 2018: Clinical Biomechanics
Patrick J Dickinson, Manoj Kumar, Claudia Martinho, Seong Jeon Yoo, Hui Lan, George Artavanis, Varodom Charoensawan, Mark Aurel Schöttler, Ralph Bock, Katja E Jaeger, Philip A Wigge
Temperature is a key environmental variable influencing plant growth and survival. Protection against high temperature stress in eukaryotes is coordinated by heat shock factors (HSFs), transcription factors that activate the expression of protective chaperones such as HEAT SHOCK PROTEIN 70 (HSP70); however, the pathway by which temperature is sensed and integrated with other environmental signals into adaptive responses is not well understood. Plants are exposed to considerable diurnal variation in temperature, and we have found that there is diurnal variation in thermotolerance in Arabidopsis thaliana, with maximal thermotolerance coinciding with higher HSP70 expression during the day...
February 13, 2018: Cell Reports
Hugo A Carignano, Dana L Roldan, María J Beribe, María A Raschia, Ariel Amadio, Juan P Nani, Gerónimo Gutierrez, Irene Alvarez, Karina Trono, Mario A Poli, Marcos M Miretti
BACKGROUND: Bovine leukemia virus (BLV) infection is omnipresent in dairy herds causing direct economic losses due to trade restrictions and lymphosarcoma-related deaths. Milk production drops and increase in the culling rate are also relevant and usually neglected. The BLV provirus persists throughout a lifetime and an inter-individual variation is observed in the level of infection (LI) in vivo. High LI is strongly correlated with disease progression and BLV transmission among herd mates...
February 13, 2018: BMC Genomics
Ryota L Matsuoka, Didier Y R Stainier
PURPOSE OF REVIEW: Zebrafish has provided a powerful platform to study vascular biology over the past 25 years, owing to their distinct advantages for imaging and genetic manipulation. In this review, we summarize recent progress in vascular biology with particular emphasis on vascular development in zebrafish. RECENT FINDINGS: The advent of transcription activator-like effector nuclease and clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 genome-editing technologies has dramatically facilitated reverse genetic approaches in zebrafish, as in other models...
February 12, 2018: Current Opinion in Hematology
Mineo Ozaki
The most important characteristic of exfoliation syndrome (XFS) is that it involves a greater risk of developing glaucoma. In comparison with other forms of open-angle glaucoma, exfoliation glaucoma (XFG) is more resistant to medical therapy and progresses faster. Possible pathological mechanisms of glaucoma development in XFS comprise: (1) elevated intraocular pressure (IOP) caused by functional impairment of aqueous humor outflow due to deposition of exfoliation material (XFM) in the trabecular meshwork and trabecular cell dysfunction, (2) XFS-associated connective tissue elastosis leading to structural and functional alterations of the lamina cribrosa which increases the vulnerability toward elevated IOP and development of glaucomatous optic neuropathy, (3) elevated IOP due to closure of the anterior chamber angle accompanied by forward displacement of the crystalline lens due to zonular weakness, (4) presumable primary functional impairment of retinal ganglion cells...
February 9, 2018: Journal of Glaucoma
Iván Vera-Escalona, Shreeram Senthivasan, Daniel E Ruzzante, Evelyn Habit
We used a multitemporal approach to identify the main attributes of a fish metapopulation, detect priority areas for conservation, and assess the consequences of landscape intervention (construction of hydropower plants). We used a freshwater fish from Patagonia as a case of study. The multitemporal analyses suggest a) that historical gene flow has recently declined, b) that populations are highly susceptible to changes in landscape, and c) a potential rapid reduction of number of alleles/population size as a consequence of the construction of hydropower plants affecting connectivity...
February 12, 2018: Conservation Biology: the Journal of the Society for Conservation Biology
Lauren Levy, J Kathleen Tracy
To review the scientific literature examining gambling behavior in military veterans in order to summarize factors associated with gambling behavior in this population. Database searches were employed to identify articles specifically examining gambling behavior in military veterans. Cumulative search results identified 52 articles (1983-2017) examining gambling behavior in veteran populations. Articles generally fell into one or more of the following categories: prevalence, psychological profiles and psychiatric comorbidities, treatment evaluations, measurement, and genetic contributions to gambling disorder...
February 9, 2018: Journal of Gambling Studies
Huihui Li, Awais Rasheed, Lee T Hickey, Zhonghu He
'Speed breeding' enables scientists to exploit gene bank accessions and mutant collections for an unparalleled rapid gene discovery and gene deployment. Combining speed breeding and other leading-edge plant breeding technologies with strategic global partnerships, has the potential to achieve the genetic gain targets required to deliver our future crops.
February 6, 2018: Trends in Plant Science
Ning Zhang, Martin Zoltner, Ka-Fai Leung, Paul Scullion, Sebastian Hutchinson, Ricardo C Del Pino, Isabel M Vincent, Yong-Kang Zhang, Yvonne R Freund, Michael R K Alley, Robert T Jacobs, Kevin D Read, Michael P Barrett, David Horn, Mark C Field
Recent development of benzoxaborole-based chemistry gave rise to a collection of compounds with great potential in targeting diverse infectious diseases, including human African Trypanosomiasis (HAT), a devastating neglected tropical disease. However, further medicinal development is largely restricted by a lack of insight into mechanism of action (MoA) in pathogenic kinetoplastids. We adopted a multidisciplinary approach, combining a high-throughput forward genetic screen with functional group focused chemical biological, structural biology and biochemical analyses, to tackle the complex MoAs of benzoxaboroles in Trypanosoma brucei...
February 9, 2018: PLoS Pathogens
George Kanoungi, Michael Nothnagel
Complex diseases are frequently modeled as following an additive model that excludes both intra- and inter-locus interaction, while at the same time reports on non-additive biological structures are ample, prominently featuring numerous metabolic and signaling pathways. Using extensive forward population simulations, we explored the impact of three basic pathway motifs on the relationship between epidemiological parameters, including disease prevalence, relative risk, sibling recurrence risk as well as causal variant number and allele frequency...
February 8, 2018: Human Genetics
Shushan Zhao, Morayo G Adebiyi, Yujin Zhang, Jacob P Couturier, Xuegong Fan, Hongqi Zhang, Rodney E Kellems, Dorothy E Lewis, Yang Xia
Sphingosine-1-phosphate (S1P) is a biolipid involved in chronic inflammation in several inflammatory disorders. Recent studies revealed that elevated S1P contributes to sickling in sickle cell disease (SCD), a devastating hemolytic, genetic disorder associated with severe chronic inflammation and tissue damage. We evaluated the effect of elevated S1P in chronic inflammation and tissue damage in SCD and underlying mechanisms. First, we demonstrated that interfering with S1P receptor signaling by FTY720, a U...
January 17, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Sayuri Tanabashi, Keiko Shoda, Chieko Saito, Tomoaki Sakamoto, Tetsuya Kurata, Tomohiro Uemura, Akihiko Nakano
The Golgi apparatus is a key station of glycosylation and membrane traffic. It consists of stacked cisternae in most eukaryotes. However, the mechanisms how the Golgi stacks are formed and maintained are still obscure. The model plant Arabidopsis thaliana provides a nice system to observe Golgi structures by light microscopy, because the Golgi in A. thaliana is in the form of mini-stacks that are distributed throughout the cytoplasm. To obtain a clue to understand the molecular basis of Golgi morphology, we took a forward-genetic approach to isolate A...
February 2, 2018: Cell Structure and Function
Matthew B Hamilton, Maria Tartakovsky, Amy Battocletti
The genetic effective population size, Ne , can be estimated from the average gametic disequilibrium (r2^) between pairs of loci but such estimates require evaluation of assumptions and currently have few methods to estimate confidence intervals. SpEED-Ne is a suite of Matlab computer code functions to estimate Ne^ from r2^ with a graphical user interface and a rich set of outputs that aid in understanding data patterns and comparing multiple estimators. SpEED-Ne includes functions to either generate or input simulated genotype data to facilitate comparative studies of Ne^ estimators under various population genetic scenarios...
February 3, 2018: Molecular Ecology Resources
Garrett J McKinney, Ryan K Waples, Carita E Pascal, Lisa W Seeb, James E Seeb
Whole genome duplications have occurred in the recent ancestors of many plants, fish, and amphibians. Signals of these whole genome duplications still exist in the form of paralogous loci. Recent advances have allowed reliable identification of paralogs in genotyping by sequencing (GBS) data such as that generated from restriction-site associated DNA sequencing (RADSeq); however, excluding paralogs from analyses is still routine due to difficulties in genotyping. This exclusion of paralogs may filter a large fraction of loci, including loci that may be adaptively important or informative for population genetic analyses...
February 2, 2018: Molecular Ecology Resources
Alejandro Treviño-Becerra
This review brings together concepts of uric acid metabolism affecting renal parenchyma and its function and the current therapies to reduce hyperuricemia (HyU) and avoid renal disease progression. High uric acid plays an important role in several chronic diseases including kidney diseases such as lithiasis, gout nephropathy, and preeclampsia. In the last 30 years, it has been shown that reducing HyU with low protein and low purine diets in addition to allopurinol creates physiopathological conditions that produce a slight increase in the glomerular filtration rate (GFR)...
2018: Contributions to Nephrology
Mutsumi Watanabe, Takayuki Tohge, Salma Balazadeh, Alexander Erban, Patrick Giavalisco, Joachim Kopka, Bernd Mueller-Roeber, Alisdair R Fernie, Rainer Hoefgen
Leaf senescence is an essential developmental process that involves diverse metabolic changes associated with degradation of macromolecules allowing nutrient recycling and remobilization. In contrast to the significant progress in transcriptomic analysis of leaf senescence, metabolomics analyses have been relatively limited. A broad overview of metabolic changes during leaf senescence including the interactions between various metabolic pathways is required to gain a better understanding of the leaf senescence allowing to link transcriptomics with metabolomics and physiology...
2018: Methods in Molecular Biology
Safiyyah Ziyad, Jesse D Riordan, Ann M Cavanaugh, Trent Su, Gloria E Hernandez, Georg Hilfenhaus, Marco Morselli, Kristine Huynh, Kevin Wang, Jau-Nian Chen, Adam J Dupuy, M Luisa Iruela-Arispe
Given its role as the source of definitive hematopoietic cells, we sought to determine whether mutations initiated in the hemogenic endothelium would yield hematopoietic abnormalities or malignancies. Here, we find that endothelium-specific transposon mutagenesis in mice promotes hematopoietic pathologies that are both myeloid and lymphoid in nature. Frequently mutated genes included previously recognized cancer drivers and additional candidates, such as Pi4ka, a lipid kinase whose mutation was found to promote myeloid and erythroid dysfunction...
January 30, 2018: Cell Reports
Deborah Goodman, Catherine O Johnson, Deborah Bowen, Megan Smith, Lari Wenzel, Karen L Edwards
Data sharing of large genomic databases and biorepositories provides researchers adequately powered samples to advance the goals of precision medicine. Data sharing may also introduce, however, participant privacy concerns including possible reidentification. This study compares views of research participants, genetic researchers, and institutional review board (IRB) professionals regarding concerns about the use of de-identified data. An online survey was completed by cancer patients, their relatives, and controls from the Northwest Cancer Genetics Registry (n = 450) querying views about potential harms with the use of de-identified data...
January 29, 2018: Translational Behavioral Medicine
Nancy B Y Tsui, Gregory Cheng, Teresa Chung, Christopher W K Lam, Anita Yee, Peter K C Chung, Tsz-Ki Kwan, Elaine Ko, Daihai He, Wing-Tak Wong, Johnson Y N Lau, Lok Ting Lau, Manson Fok
The genetic bases of many common diseases have been identified through genome-wide association studies in the past decade. However, the application of this approach on public healthcare planning has not been well established. Using Macau with population of around 650,000 as a basis, we conducted a pilot study to evaluate the feasibility of population genomic research and its potential on public health decisions. By performing genome-wide SNP genotyping of over a thousand Macau individuals, we evaluated the population genetic risk profiles of 47 non-communicable diseases and traits, as well as two traits associated with influenza infection...
January 30, 2018: Scientific Reports
Shou Liu, Ji Shin Lee, Chunfa Jie, Min-Ho Park, Yoichiro Iwakura, Yogin Patel, Mithil Soni, David Reisman, Hexin Chen
Systemic inflammation in breast cancer correlates with poor prognosis but the molecular underpinnings of this connection are not well understood. In this study, we explored the relationship between HER2 overexpression, inflammation and expansion of the mammary stem/progenitor and cancer stem-like cell (CSC) population in breast cancer. HER2-positive epithelial cells initiated and sustained an inflammatory milieu needed to promote tumorigenesis. HER2 induced a feed-forward activation loop of IL-1α and IL-6 that stimulated NF-κB and STAT3 pathways for generation and maintenance of breast CSC...
January 30, 2018: Cancer Research
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