Faclair na Gàidhlig and Corpas na Gàidhlig: New Approaches Make Sense

For minority languages in the twenty-first century increasingly overshadowed by their global counterparts, language maintenance and revitalisation are of paramount importance. Closely linked to these issues is the question of corpus planning. This essay will focus on two projects in Scottish Gaelic which will play a major part in preserving and maintaining the language by providing it with high quality lexicographical and research resources: Faclair na Gàidhlig and Corpas na Gàidhlig respectively ; the essay concludes with a brief case study on Gaelic numerals which illustrates how Corpas na Gàidhlig can powerfully enhance our understanding of Gaelic

Faclair na Gàidhlig and Corpas na Gàidhlig: New Approaches Make Sense

For minority languages in the twenty-first century increasingly overshadowed by their global counterparts, language maintenance and revitalisation are of paramount importance. Closely linked to these issues is the question of corpus planning. This essay will focus on two projects in Scottish Gaelic which will play a major part in preserving and maintaining the language by providing it with high quality lexicographical and research resources: Faclair na Gàidhlig and Corpas na Gàidhlig respectively ; the essay concludes with a brief case study on Gaelic numerals which illustrates how Corpas na Gàidhlig can powerfully enhance our understanding of Gaelic

Novel genetic loci associated with hippocampal volume

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

Martin K. Oehler is a member of the Australian Ovarian Cancer StudyEpithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3′ untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene–environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10−8) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10−10). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes.Jennifer Permuth-Wey ... Australian Cancer Study, Australian Ovarian Cancer Study ... Consortium of Investigators of Modifiers of BRCA1/2 ... et al

Use of Discriminant Analysis on Visible and near Infrared Reflectance Spectra to Detect Adulteration of Fishmeal with Meat and Bone Meal

Since the link between feeding ruminant-derived meat and bone meal (MBM) and the occurrence of bovine spongiform encephalopathy (BSE) and its human equivalent variant Creutzfeldt–Jakob disease (vCJD) has been established, it is imperative that potentially infective material is excluded from the food chain. To this end, a Partial Least Squares (PLS) discriminant analysis, using visible and NIR reflectance spectra, was developed on a calibration set of 67 samples consisting of 22 authentic fishmeal (FM) specimens and 45 fishmeals deliberately adulterated with meat and bone meal (MBM) at 3%, 6% and 9% by weight, respectively; 15 samples were prepared at each concentration. Each material was unique in that any one fishmeal or meat and bone meal was used once only. In an independent validation set of 69 specimens prepared in exactly the same way, the discriminant successfully detected 44 out of 45 adulterated specimens with an error of one false positive among the remaining 24 pure fishmeals. Performance was tested on two independent monochromators and a canonical discriminant algorithm gave similar results. The NIR region (1100–2500 nm) or the visible and Herschel IR (400–1100 nm) alone did not perform as well as the combined visible and NIR regions. Modified PLS calibration for MBM % on the complete set of 136 specimens gave a standard error of calibration ( SEC) of 0.85% and coefficient of determination ( R2) of 0.94 based on the use of nine factors. Selection of appropriate and representative specimens for calibration and validation had a much greater effect on performance than any data treatment, scatter correction or the number of cross-validations or PLS factors used. Misclassification errors arose from specimens which were global H outliers having atypical spectra not represented in the calibration model. We believe that visible-NIR reflectance spectroscopy could routinely provide the first line of defence of the food chain against accidental contamination or fraudulent adulteration of fishmeal with meat and bone meal, which could present a health risk from transmissible spongiform encephalopathies (TSEs). </jats:p

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

Contains fulltext : 118378.pdf (publisher's version ) (Open Access)HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk according to histological subtype. Here we comprehensively map variation in HNF1B with respect to epithelial ovarian cancer risk and analyse DNA methylation and expression profiles across histological subtypes. Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 x 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 x 10(-8)) epithelial ovarian cancer. Risk alleles for the serous subtype associate with higher HNF1B-promoter methylation in these tumours. Unmethylated, expressed HNF1B, primarily present in clear cell tumours, coincides with a CpG island methylator phenotype affecting numerous other promoters throughout the genome. Different variants in HNF1B associate with risk of serous and clear cell epithelial ovarian cancer; DNA methylation and expression patterns are also notably distinct between these subtypes. These findings underscore distinct mechanisms driving different epithelial ovarian cancer histological subtypes