The liver but not the skin is the site for conversion of a red carotenoid in a passerine bird

Carotenoids may provide numerous health benefits and are also responsible for the integumentary coloration of many bird species. Despite their importance, many aspects of their metabolism are still poorly known, and even basic issues such as the anatomical sites of conversion remain controversial. Recent studies suggest that the transformation of carotenoid pigments takes place directly in the follicles during feather growth, even though the liver has been previously recognised as a storing organ for these pigments with a certain potential for conversion. In this context, we analysed the carotenoid profile of plasma, liver, skin and feathers of male Common Crossbills (Loxia curvirostra). Interestingly, the derivative feather pigment 3-hydroxy-echinenone was detected in the liver and in the bloodstream (i.e. the necessary vehicle to transport metabolites to colourful peripheral tissues). Our results demonstrate for the first time with empirical data that the liver may act as the main site for the synthesis of integumentary carotenoids. This finding contradicts previous assumptions and raises the question of possible inter-specific differences in the site of carotenoid conversion in birds.     

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Objective

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.

Method

The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.

Results

The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.

Conclusion

EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.     

Flow cytometry detection of lysosomal presence and lysosomal membrane integrity in the three-spined stickleback (Gasterosteus aculeatus L.) immune cells: applications in environmental aquatic immunotoxicology.

The neutral red retention assay has been proposed to determine the lysosomal membrane stability in immune cells. Nevertheless, this assay implies many examinations under a microscope at short time intervals and therefore the analysis of few samples. The present study proposes two more rapid, efficient, and sensitive sample analyses using flow cytometry method. Lysosomal presence and lysosomal membrane integrity (LMI) were evaluated on the three-spined stickleback, Gasterosteus aculeatus (L.), a well-described model fish species for aquatic ecotoxicology studies. After development of the two biomarkers, they were validated by ex vivo contamination with endosulfan and copper and by in situ sampling. These immunomarkers were clearly modulated by pollutants and their variations seemed to be correlated with leucocyte mortality. Thus, from a practical point of view, lysosomal presence and LMI may provide novel and efficient means of evaluating immune capacities and indicating the toxic effects of environmental pollution.