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Flanking SNP markers for vicine–convicine concentration in faba bean (Vicia faba L).

The pyrimidine glycosides, vicine and convicine, limit the use of faba bean (Vicia faba L.) as food and feed. A single recessive gene, vc-, is responsible for a lowered vicine–convicine concentration. The biosynthetic pathway of these closely related compounds is not known, and the nearest available markers are several cM away from vc-. Improved markers would assist breeding and help to identify candidate genes. A segregating population of 210 F5 recombinant inbred lines was developed from the cross of Mélodie/2 (low vicine–convicine) × ILB 938/2 (normal vicine–convicine), and vicine–convicine concentrations were determined twice on each line. The population was genotyped with a set of 188 SNPs. A strong, single QTL for vicine–convicine concentration was identified on chromosome I, flanked by markers 1.0 cM away on one side and 2.6 cM on the other. The interval defined by these markers in the model species Medicago truncatula includes about 340 genes, but no candidate genes were identified. Further fine mapping should lead to the identification of tightly linked markers as well as narrowing down the search for candidate regulatory or biosynthetic genes which could underlie the vc- locus.

A multi level analysis on pollination-related policies

The paper explores pollination from a multi level policy perspective and analyses the institutional fit and inter play of multi-faceted pollination-related policies. First, it asks what the major policies are that frame pollination at the EU level. Second, it explores the relationship between the EU policies and localised ways of understanding pollination. Addressed third is how the concept of ecosystem services can aid in under- standing the various ways of framing and governing the situation. The results show that the policy systems affecting pollination are abundant and that these systems create different kinds of pressure on stakeholders, at several levels of society. The local-level concerns are more about the loss of pollination services than about loss of pollinators. This points to the problem of fit between local activity driven by economic reasoning and biodiversity-driven EU policies. Here we see the concept of ecosystem services having some potential, since its operationalisation can combine economic and environmental considerations. Further- more, the analysis shows how, instead of formal institutions, it seems that social norms, habits, and motivation are the key to understanding and developing effective and attractive governance measures.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Background Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved. Methods High resolution array comparative genomic hybridisation (CGH) was performed in patients with SHFLD to detect copy number changes. Candidate genes were further evaluated for expression and function during limb development by whole mount in situ hybridisation and morpholino knock-down experiments. Results Array CGH showed microduplications on chromosome 17p13.3, a locus previously associated with SHFLD. Detailed analysis of 17 families revealed that this copy number variation serves as a susceptibility factor for a highly variable phenotype with reduced penetrance, particularly in females. Compared to other known causes for SHFLD 17p duplications appear to be the most frequent cause of SHFLD. A similar to 11.8 kb minimal critical region was identified encompassing a single gene, BHLHA9, a putative basic loop helix transcription factor. Whole mount in situ hybridisation showed expression restricted to the limb bud mesenchyme underlying the apical ectodermal ridge in mouse and zebrafish embryos. Knock down of bhlha9 in zebrafish resulted in shortening of the pectoral fins. Conclusions Genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias. Knock-down of bhlha9 in zebrafish causes severe reduction defects of the pectoral fin, indicating a role for this gene in limb development.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background.

Cryopreservation and autotransplantation of human ovarian tissue prior to cytotoxic therapy--a technique in its infancy but already successful in fertility preservation

Increasing survival rates in young cancer patients, new reproductive techniques and the growing interest in quality of life after gonadotoxic cancer therapies have placed fertility preservation as an important issue to oncologists, fertility specialists and patients. Several techniques are now available for fertility preservation in these patients. A new promising method is cryopreservation and transplantation of ovarian cortex. Ovarian tissue can be extracted by laparoscopy without any significant delay of gonadotoxic therapy. The tissue can be cryopreserved by specialised centres of reproductive medicine and transplanted in case the women experience premature ovarian failure (POF). This review summarises the European expertise on cryopreservation and transplantation of ovarian tissue, following around 30 reported transplantations globally, resulting in six live births and several ongoing pregnancies. It emphasises that fertility preservation by the cryopreservation of ovarian tissue is a new but already a successful clinical option, which can be considered for selected cancer patients.

The Role of a Non-Governmental Organization in the Improvement of Employment in Finland: A Case Study

This study discusses one Non-Governmental Organization (NGO) as an alternative institution for the improvement of employment in a Finnish city. Empirical data was collected from 16 employees and from an official of the organization using questionnaires, interviews and participant observation. The data was analyzed qualitatively and the findings revealed that, the organization plays complementary role in cooperating with the government to provide social services to underprivileged groups of people, through which the organization is able to create jobs for long-term unemployed people in the city of Jyväskylä. However, the skill development training of the organization was found to be inadequate for boosting the employability of their employees in the open labour market, once the latter’s 1-2 year contract ended. The study concluded that for the organization to become a viable alternative institution for the improvement of employment in the city of Jyväskylä, it must improve the skill development training of their employees, as well as increase collaboration with other actors that are working towards the same goals.

The Role of a Non-Governmental Organization in the Improvement of Employment in Finland: A Case Study

This study discusses one Non-Governmental Organization (NGO) as an alternative institution for the improvement of employment in a Finnish city. Empirical data was collected from 16 employees and from an official of the organization using questionnaires, interviews and participant observation. The data was analyzed qualitatively and the findings revealed that, the organization plays complementary role in cooperating with the government to provide social services to underprivileged groups of people, through which the organization is able to create jobs for long-term unemployed people in the City of Jyväskylä. However, the skill development training of the organization was found to be inadequate for boosting the employability of their employees in the open labour market, once their 1-2 year contract ended. The study concluded that for the organization to become a viable alternative institution for the improvement of employment in the City of Jyväskylä, it must improve the skill development training of their employees, as well as increase collaboration with other actors that are working towards the same goals.

Prevalence and prognostic significance of TMPRSS2-ERG gene fusion in lymph node positive prostate cancers.

BACKGROUND TMPRSS2-ERG gene fusion is the most frequent genetic alteration in prostate cancer. However, information about its distribution in lymph node positive prostate cancers and the prognostic significance in these advanced tumors is unknown. METHODS Gene fusion status was determined by fluorescence in situ hybridization on a tissue-microarray constructed from 119 hormone-naïve nodal positive, surgically treated prostate cancers containing samples from the primary tumors and corresponding lymph node metastases. Data were correlated with various tumor features (Gleason score, stage, cancer volume, nodal tumor burden) and biochemical recurrence-free, disease-specific, and overall survival. RESULTS TMPRSS2-ERG fusion was detected in 43.5% of the primary tumors. Conversely, only 29.9% of the metastasizing components showed the fusion. Concordance in TMPRSS2-ERG status between primary tumors and metastases was 70.9% (Kappa 0.39); 20.9% and 8.1% of the patients showed the mutation solely in their primary tumors and metastases, respectively. TMPRSS2-ERG fusion was not correlated with specific histopathological tumor features but predicted favorable biochemical recurrence-free, disease-specific and overall survival independently when present in the primary tumor (P < 0.05 each). CONCLUSION TMPRSS2-ERG fusion is more frequent in primary prostate cancer than in corresponding metastases suggesting no selection of fusion-positive cells in the metastatic process. The gene fusion in primary tumors independently predicts favorable outcome.