Genomic Organization, Splice Variants and Expression of CGMl, a CD66-related Member of the Carcinoembryonic Antigen Gene Family

The tumor marker carcinoembryonic antigen (CEA) belongs to a family of proteins which are composed of one immunogiobulin variable domain and a varying number of immunoglobulin constant-like domains. Most of the membrane-bound members, which are anchored either by a glycosylphosphatidylinositol moiety or a transmembrane domain, have been shown to convey cell adhesion in vitro. Here we describe two splice variants of CGMI. a transmembrane member of the CEA family without immunoglobulin constant.like domains. CGM1a and CGM1c contain cytopiasmic domains of 71 and 31 amino acids, respectively, The cytoplasmic region of CGM1a is encoded by four exons (Cyt1-Cyt4). Differential splicing of the Cyt1 exon (53 bp)..

A massive rock and ice avalanche caused the 2021 disaster at Chamoli, Indian Himalaya

On 7 Feb 2021, a catastrophic mass flow descended the Ronti Gad, Rishiganga, and Dhauliganga valleys in Chamoli, Uttarakhand, India, causing widespread devastation and severely damaging two hydropower projects. Over 200 people were killed or are missing. Our analysis of satellite imagery, seismic records, numerical model results, and eyewitness videos reveals that ~27x106 m3 of rock and glacier ice collapsed from the steep north face of Ronti Peak. The rock and ice avalanche rapidly transformed into an extraordinarily large and mobile debris flow that transported boulders >20 m in diameter, and scoured the valley walls up to 220 m above the valley floor. The intersection of the hazard cascade with downvalley infrastructure resulted in a disaster, which highlights key questions about adequate monitoring and sustainable development in the Himalaya as well as other remote, high-mountain environments

A High-Quality Bonobo Genome Refines The Analysis Of Hominid Evolution

The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation(1,2). Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without guidance from reference genomes by applying a multiplatform genomics approach. We generate a bonobo genome assembly in which more than 98% of genes are completely annotated and 99% of the gaps are closed, including the resolution of about half of the segmental duplications and almost all of the full-length mobile elements. We compare the bonobo genome to those of other great apes(1,3-5) and identify more than 5,569 fixed structural variants that specifically distinguish the bonobo and chimpanzee lineages. We focus on genes that have been lost, changed in structure or expanded in the last few million years of bonobo evolution. We produce a high-resolution map of incomplete lineage sorting and estimate that around 5.1% of the human genome is genetically closer to chimpanzee or bonobo and that more than 36.5% of the genome shows incomplete lineage sorting if we consider a deeper phylogeny including gorilla and orangutan. We also show that 26% of the segments of incomplete lineage sorting between human and chimpanzee or human and bonobo are non-randomly distributed and that genes within these clustered segments show significant excess of amino acid replacement compared to the rest of the genome

Specialist training in Fiji: Why do graduates migrate, and why do they remain? A qualitative study

<p>Abstract</p> <p>Background</p> <p>Specialist training was established in the late 1990s at the Fiji School of Medicine. Losses of graduates to overseas migration and to the local private sector prompted us to explore the reasons for these losses from the Fiji public workforce.</p> <p>Methods</p> <p>Data were collected on the whereabouts and highest educational attainments of the 66 Fiji doctors who had undertaken specialist training to at least the diploma level between 1997 and 2004. Semistructured interviews focusing on career decisions were carried out with 36 of these doctors, who were purposively sampled to include overseas migrants, temporary overseas trainees, local private practitioners and public sector doctors.</p> <p>Results</p> <p>120 doctors undertook specialist training to at least the diploma level between 1997 and 2004; 66 of the graduates were Fiji citizens or permanent residents; 54 originated from other countries in the region. Among Fiji graduates, 42 completed a diploma and 24 had either completed (21) or were enrolled (3) in a master's programme. Thirty-two (48.5%) were working in the public sectors, four (6.0%) were temporarily training overseas, 30.3% had migrated overseas and the remainder were mostly in local private practice. Indo-Fijian ethnicity and non-completion of full specialist training were associated with lower retention in the public sectors, while gender had little impact. Decisions to leave the public sectors were complex, with concerns about political instability and family welfare predominating for overseas migrants, while working conditions not conducive to family life or frustrations with career progression predominated for local private practitioners. Doctors remaining in the public sectors reported many satisfying aspects to their work despite frustrations, though 40% had seriously considered resigning from the public service and 60% were unhappy with their career progression.</p> <p>Conclusion</p> <p>Overall, this study provides some support for the view that local or regional postgraduate training may increase retention of doctors. Attention to career pathways and other sources of frustration, in addition to encouragement to complete training, should increase the likelihood of such programmes' reaching their full potentials.</p

A comparative genomics multitool for scientific discovery and conservation

A whole-genome alignment of 240 phylogenetically diverse species of eutherian mammal-including 131 previously uncharacterized species-from the Zoonomia Project provides data that support biological discovery, medical research and conservation. The Zoonomia Project is investigating the genomics of shared and specialized traits in eutherian mammals. Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a whole-genome alignment of 240 species of considerable phylogenetic diversity, comprising representatives from more than 80% of mammalian families. We find that regions of reduced genetic diversity are more abundant in species at a high risk of extinction, discern signals of evolutionary selection at high resolution and provide insights from individual reference genomes. By prioritizing phylogenetic diversity and making data available quickly and without restriction, the Zoonomia Project aims to support biological discovery, medical research and the conservation of biodiversity.Peer reviewe

Should the poultry red mite Dermanyssus gallinae be of wider concern for veterinary and medical science?

The poultry red mite Dermanyssus gallinae is best known as a threat to the laying-hen industry; adversely affecting production and hen health and welfare throughout the globe, both directly and through its role as a disease vector. Nevertheless, D. gallinae is being increasingly implemented in dermatological complaints in non-avian hosts, suggesting that its significance may extend beyond poultry. The main objective of the current work was to review the potential of D. gallinae as a wider veterinary and medical threat. Results demonstrated that, as an avian mite, D. gallinae is unsurprisingly an occasional pest of pet birds. However, research also supports that these mites will feed from a range of other animals including: cats, dogs, rodents, rabbits, horses and man. We conclude that although reported cases of D. gallinae infesting mammals are relatively rare, when coupled with the reported genetic plasticity of this species and evidence of permanent infestations on non-avian hosts, potential for host-expansion may exist. The impact of, and mechanisms and risk factors for such expansion are discussed, and suggestions for further work made. Given the potential severity of any level of host-expansion in D. gallinae, we conclude that further research should be urgently conducted to confirm the full extent of the threat posed by D. gallinae to (non-avian) veterinary and medical sectors

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

SummaryWe report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine

The organic food philosophy. A qualitative exploration of the practices, values, and beliefs of Dutch organic consumers within a cultural-historical frame

Food consumption has been identified as a realm of key importance for progressing the world towards more sustainable consumption overall. Consumers have the option to choose organic food as a visible product of more ecologically integrated farming methods and, in general, more carefully produced food. This study aims to investigate the choice for organic from a cultural-historical perspective and aims to reveal the food philosophy of current organic consumers in The Netherlands. A concise history of the organic food movement is provided going back to the German Lebensreform and the American Natural Foods Movement. We discuss themes such as the wish to return to a more natural lifestyle, distancing from materialistic lifestyles, and reverting to a more meaningful moral life. Based on a number of in-depth interviews, the study illustrates that these themes are still of influence among current organic consumers who additionally raised the importance of connectedness to nature, awareness, and purity. We argue that their values are shared by a much larger part of Dutch society than those currently shopping for organic food. Strengthening these cultural values in the context of more sustainable food choices may help to expand the amount of organic consumers and hereby aid a transition towards more sustainable consumption. © 2012 The Author(s)