Living in an oasis: Rapid transformations,resilience, and resistance in the North Water Area societies and ecosystems

Based on lake sediment data, archaeological findings, and historical records, we describe rapid transformations, resilience and resistance in societies and ecosystems, and their interactions in the past in the North Water area related to changes in climate and historical events. Examples are the formation of the polynya itself and the early arrival of people, ca. 4500 years ago, and later major human immigrations (different societies, cultural encounters, or abandonment) from other regions in the Arctic. While the early immigrations had relatively modest and localised effect on the ecosystem, the later-incoming culture in the early thirteenth century was marked by extensive migrations into and out of the area and abrupt shifts in hunting technologies. This has had long-lasting consequences for the local lake ecosystems. Large natural transformations in the ecosystems have also occurred over relatively short time periods related to changes in the polynya. Finally, we discuss the future perspectives for the North Water area given the many threats, but also opportunities.     

Conservation of Bio synthetic pheromone pathways in honeybees Apis

Social insects use complex chemical communication systems to govern many aspects of their life. We studied chemical changes in Dufours gland secretions associated with ovary development in several genotypes of honeybees. We found that C28–C38 esters were associated only with cavity nesting honeybee queens, while the alcohol eicosenol was associated only with their non-laying workers. In contrast, both egg-laying anarchistic workers and all parasitic Cape workers from queenright colonies showed the typical queen pattern (i.e. esters present and eicosenol absent), while egg-laying wild-type and anarchistic workers in queenless colonies showed an intermediate pattern, producing both esters and eicosenol but at intermediate levels. Furthermore, neither esters nor eicosenol were found in aerial nesting honeybee species. Both esters and eicosenol are biosynthetically similar compounds since both are recognizable products of fatty acid biosynthesis. Therefore, we propose that in honeybees the biosynthesis of esters and eicosenol in the Dufours gland is caste-regulated and this pathway has been conserved over evolutionary time.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Power matters in closing the phenotyping gap

Much of our understanding of physiology and metabolism is derived from investigating mouse mutants and transgenic mice, and open-access platforms for standardized mouse phenotyping such as the German Mouse Clinic (GMC) are currently viewed as one powerful tool for identifying novel gene-function relationships. Phenotyping or phenotypic screening involves the comparison of wild-type control mice with their mutant or transgenic littermates. In our study, we explored the extent to which standardized phenotyping will succeed in detecting biologically relevant phenotypic differences in mice generated and provided by different collaborators. We analyzed quantitative metabolic data (body mass, energy intake, and energy metabolized) collected at the GMC under the current workflow, and used them for statistical power considerations. Our results demonstrate that there is substantial variability in these parameters among lines of wild-type C57BL/6 (B6) mice from different sources. Given this variable background noise in mice that serve as controls, subtle phenotypes in mutant or transgenic littermates may be overlooked. Furthermore, a phenotype observed in one cohort of a mutant line may not be reproducible (to the same extent) in mice coming from a different environment or supplier. In the light of these constraints, we encourage researchers to incorporate information on intrastrain variability into future study planning, or to perform advanced hierarchical analyses. Both will ultimately improve the detectability of novel phenotypes by phenotypic screening. Carola W. Meyer and Ralf Elvert contributed equally to this work.     

Soil and preen waxes influence the expression of carotenoid-based plumage coloration

The signaling function of carotenoid-based plumage is mainly determined by the concentration of pigments in feathers. For this reason, most studies of the proximate control of coloration focus on processes during and preceding moult. In great tits Parus major, past research demonstrates that carotenoid-based plumage coloration honestly indicates male quality and, thus, may be a sexually selected signal. In this study, we investigate how dirt and preen oil influence the coloration of carotenoid-based feathers in the great tit. We collected six feathers from each individual bird; three feathers served as controls while the remaining three feathers were washed with a chloroform/methanol mixture to remove soil and preen waxes. We assessed plumage coloration using digital photography. This cleaning procedure slightly enhanced ornamentation; the experimentally cleaned feathers expressed hues shifted towards shorter wavelengths and expressed brighter overall coloration than control feathers. This is the first experimental study conducted on wild birds demonstrating that, in addition to pigment concentration, the presence of preen waxes and soils on feathers may contribute to variation in coloration.     

Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant

A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.