Yeast Miro GTPase, Gem1p, regulates mitochondrial morphology via a novel pathway

Cell signaling events elicit changes in mitochondrial shape and activity. However, few mitochondrial proteins that interact with signaling pathways have been identified. Candidates include the conserved mitochondrial Rho (Miro) family of proteins, which contain two GTPase domains flanking a pair of calcium-binding EF-hand motifs. We show that Gem1p (yeast Miro; encoded by YAL048C) is a tail-anchored outer mitochondrial membrane protein. Cells lacking Gem1p contain collapsed, globular, or grape-like mitochondria. We demonstrate that Gem1p is not an essential component of characterized pathways that regulate mitochondrial dynamics. Genetic studies indicate both GTPase domains and EF-hand motifs, which are exposed to the cytoplasm, are required for Gem1p function. Although overexpression of a mutant human Miro protein caused increased apoptotic activity in cultured cells (Fransson et al., 2003. J. Biol. Chem. 278:6495–6502), Gem1p is not required for pheromone-induced yeast cell death. Thus, Gem1p defines a novel mitochondrial morphology pathway which may integrate cell signaling events with mitochondrial dynamics

Intellectual Disability Related to De Novo Germline Loss of the Distal End of the P-Arm of Chromosome 17: A Case Report

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient. Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv). Results: Karyotype was found to be normal, but CGH revealed a deletion of the tail end of the p-arm of chromosome 17, 17p13.3. At least 134 genes are present in this genomic location, and 35 of them are uncharacterized. Both Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS) are characterized by a smooth cerebral cortex and intellectual disability, but the patient’s symptoms more closely mirror MDS because muscle tone was normal. The patient was significantly shorter than peers, but growth hormone therapy over the course of several years allowed the patient to reach a normal height, albeit shorter than her siblings and parents. The list of genes deleted will be investigated to determine if a single gene is likely responsible for the phenotype. Conclusions: Here we present a patient with intellectual disability and a previously uncharacterized deletion on chromosome 17. Similar, though not identical conditions have been previously reported, but not well characterized indicating that the present patient could possibly have one of these conditions. Further directions include investigation of the deleted genes to determine a probable cause for the symptoms exhibited

Serum Chemistry Values in Wild Black Vultures in Mississippi, USA

Vultures (Cathartidae and Accipitridae) play an important role in ecosystem balance by rapidly disposing animal carcasses and thus preventing the potential spread of pathogens. Blood chemistry values provide a means of assessing the health of wildlife and wild animal populations; however, there are significant differences in chemistries among species and when comparing captive and free-living New and Old World vultures. In 2007, we collected blood serum from 30 female and 14 male wild, healthy black vultures (Coragyps atratus) live-trapped by the U.S. Department of Agriculture, Animal and Plant Health Inspection Service, Wildlife Services from a power substation in Lowndes County, Mississippi, USA. We analyzed the blood serum to provide serum chemistry base values for use in clinical pathology. The chemical analytes we measured included sodium, chloride, potassium, carbon dioxide, anion gap, glucose, creatinine, calcium, phosphorus, total protein, albumin, globulin, and aspartate aminotransferase. In general, blood chemistry values of black vultures were similar to those found in New and Old World vultures and raptor species. Average chemistry values for males were lower than females for sodium, chloride, creatinine, calcium, total protein, albumin, and globulin. The serum chemistry values we describe in this paper can be important indicators of avian health by gender for the black vulture. Our study provided important blood chemistry values from a large sample size, which is rarely available in free-ranging black vultures. These values could be used by scientists, veterinary pathologists, wildlife rehabilitation centers, and other researchers for baseline data for wild and free-ranging birds. Furthermore, the use of such parameters in assessing population health may enable conservationists to further research environmental conditions affecting species reproduction and survival

Investigating the Genetics of Chronic Intractable Migraine with Reactive Hypoglycemia

Migraines affect roughly 1-in-6 males and 1-in-5 females in the United States. Of these, approximately 5-30% experience intractable migraines, or migraines resistant to abortive treatments. Despite this large population, relatively little is known about intractable migraines compared to other types of migraines. Our recent work indicates that reactive hypoglycemia is common among these individuals. Additionally, empirical evidence suggests that individuals in families with chronic intractable migraines are more likely to have the same condition than people of the general population, suggesting a possible genetic link between both migraines and metabolic abnormalities. Previous Genome Wide Association Studies (GWAS) have found several genetic markers for migraines, but the studies have not differentiated groups by important factors including severity and frequency of migraines or treatment response. Furthermore, GWA studies investigate only common variation. Despite these limitations, a variant in the LEPR gene (rs751167), the leptin receptor gene was found to be significantly associated with migraines. Variants in the LEPR gene are associated with weight gain and metabolic syndrome, indicating a link between metabolism and migraines. In the present study, we aim to broaden the scope, investigating chronic intractable migraine with reactive hypoglycemia specifically, and using all variant types including small insertions/deletions, rare variants, and copy number variants. To investigate heritability, we will take pedigrees of individuals that fit this phenotype

The Genome and Methylome of a Beetle with Complex Social Behavior,Nicrophorus vespilloides(Coleoptera: Silphidae)

Testing for conserved and novelmechanisms underlying phenotypic evolution requires a diversity of genomes available for comparisonspanning multiple independent lineages. For example, complex social behavior in insects has been investigated primarily witheusocial lineages, nearly all of which are Hymenoptera. If conserved genomic influences on sociality do exist, we need data from awider range of taxa that also vary in their levels of sociality. Here,we present the assembled and annotated genome of the subsocialbeetle Nicrophorus vespilloides, a species long used to investigate evolutionary questions of complex social behavior. We used thisgenome to address two questions. First, do aspects of life history, such as using a carcass to breed, predict overlap in gene modelsmore strongly than phylogeny? We found that the overlap in gene models was similar between N. vespilloides and all other insectgroups regardless of life history. Second, like other insects with highly developed social behavior but unlike other beetles, doesN. vespilloides have DNA methylation?We found strong evidence for an active DNA methylation system. The distribution of methylationwassimilar to other insects with exons having themostmethylatedCpGs. Methylation status appears highly conserved; 85%of themethylated genes in N. vespilloides are alsomethylated in the hymentopteran Nasonia vitripennis. The addition of this genomeadds a coleopteran resource to answer questions about the evolution and mechanistic basis of sociality and to address questionsabout the potential role of methylation in social behavior

The PHENIX Experiment at RHIC

The physics emphases of the PHENIX collaboration and the design and current status of the PHENIX detector are discussed. The plan of the collaboration for making the most effective use of the available luminosity in the first years of RHIC operation is also presented.Comment: 5 pages, 1 figure. Further details of the PHENIX physics program available at http://www.rhic.bnl.gov/phenix

CropPol: a dynamic, open and global database on crop pollination

Seventy five percent of the world's food crops benefit from insect pollination. Hence, there has been increased interest in how global change drivers impact this critical ecosystem service. Because standardized data on crop pollination are rarely available, we are limited in our capacity to understand the variation in pollination benefits to crop yield, as well as to anticipate changes in this service, develop predictions, and inform management actions. Here, we present CropPol, a dynamic, open and global database on crop pollination. It contains measurements recorded from 202 crop studies, covering 3,394 field observations, 2,552 yield measurements (i.e. berry weight, number of fruits and kg per hectare, among others), and 47,752 insect records from 48 commercial crops distributed around the globe. CropPol comprises 32 of the 87 leading global crops and commodities that are pollinator dependent. Malus domestica is the most represented crop (32 studies), followed by Brassica napus (22 studies), Vaccinium corymbosum (13 studies), and Citrullus lanatus (12 studies). The most abundant pollinator guilds recorded are honey bees (34.22% counts), bumblebees (19.19%), flies other than Syrphidae and Bombyliidae (13.18%), other wild bees (13.13%), beetles (10.97%), Syrphidae (4.87%), and Bombyliidae (0.05%). Locations comprise 34 countries distributed among Europe (76 studies), Northern America (60), Latin America and the Caribbean (29), Asia (20), Oceania (10), and Africa (7). Sampling spans three decades and is concentrated on 2001-05 (21 studies), 2006-10 (40), 2011-15 (88), and 2016-20 (50). This is the most comprehensive open global data set on measurements of crop flower visitors, crop pollinators and pollination to date, and we encourage researchers to add more datasets to this database in the future. This data set is released for non-commercial use only. Credits should be given to this paper (i.e., proper citation), and the products generated with this database should be shared under the same license terms (CC BY-NC-SA). This article is protected by copyright. All rights reserved

National identity predicts public health support during a global pandemic

Changing collective behaviour and supporting non-pharmaceutical interventions is an important component in mitigating virus transmission during a pandemic. In a large international collaboration (Study 1, N = 49,968 across 67 countries), we investigated self-reported factors associated with public health behaviours (e.g., spatial distancing and stricter hygiene) and endorsed public policy interventions (e.g., closing bars and restaurants) during the early stage of the COVID-19 pandemic (April-May 2020). Respondents who reported identifying more strongly with their nation consistently reported greater engagement in public health behaviours and support for public health policies. Results were similar for representative and non-representative national samples. Study 2 (N = 42 countries) conceptually replicated the central finding using aggregate indices of national identity (obtained using the World Values Survey) and a measure of actual behaviour change during the pandemic (obtained from Google mobility reports). Higher levels of national identification prior to the pandemic predicted lower mobility during the early stage of the pandemic (r = −0.40). We discuss the potential implications of links between national identity, leadership, and public health for managing COVID-19 and future pandemics.publishedVersio

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

Predicting attitudinal and behavioral responses to COVID-19 pandemic using machine learning

At the beginning of 2020, COVID-19 became a global problem. Despite all the efforts to emphasize the relevance of preventive measures, not everyone adhered to them. Thus, learning more about the characteristics determining attitudinal and behavioral responses to the pandemic is crucial to improving future interventions. In this study, we applied machine learning on the multinational data collected by the International Collaboration on the Social and Moral Psychology of COVID-19 (N = 51,404) to test the predictive efficacy of constructs from social, moral, cognitive, and personality psychology, as well as socio-demographic factors, in the attitudinal and behavioral responses to the pandemic. The results point to several valuable insights. Internalized moral identity provided the most consistent predictive contribution—individuals perceiving moral traits as central to their self-concept reported higher adherence to preventive measures. Similar results were found for morality as cooperation, symbolized moral identity, self-control, open-mindedness, and collective narcissism, while the inverse relationship was evident for the endorsement of conspiracy theories. However, we also found a non-neglible variability in the explained variance and predictive contributions with respect to macro-level factors such as the pandemic stage or cultural region. Overall, the results underscore the importance of morality-related and contextual factors in understanding adherence to public health recommendations during the pandemic.Peer reviewe