Defining the qualitative elements of Aichi Biodiversity Target 11 with regard to the marine and coastal environment in order to strengthen global efforts for marine biodiversity conservation outlined in the United Nations Sustainable Development Goal 14

The Convention on Biological Diversity (CBD) Aichi Target 11 states that, “by 2020, at least 17 per cent of terrestrial and inland water, and 10 per cent of coastal and marine areas, especially areas of particular importance for biodiversity and ecosystem services, are conserved through effectively and equitably managed, ecologically representative and well-connected systems of protected areas and other effective area-based conservation measures, and integrated into the wider landscapes and seascapes”. There has been rapid progress to meet the quantitative goal (the 10% target). However, the qualitative aspects of Aichi target 11 are less well described. The United Nations Sustainable Development Goal (SDG) 14 to “conserve and sustainably use the oceans, seas and marine resources for sustainable development” reaffirms the quantitative element of Aichi target 11, and, through the described sub-targets, places further emphasis on the economic and social context of global development. The complexity of the language from Aichi target 11 is not mirrored in SDG 14, leading to a potential scenario where the knowledge and progress towards Aichi Target 11 will be diluted as the focus shifts to the SDGs. This paper presents current knowledge and implementation of the qualitative elements of Aichi Target 11 and highlights gaps in knowledge. We conclude that the progress made so far on describing and implementing the qualitative goals of Aichi Target 11 should be integrated into SDG 14 in order to strengthen global efforts for marine biodiversity conservation and support the broader vision for sustainable development that will “transform our world”

Identifying conservation priorities for gorgonian forests in Italian coastal waters with multiple methods including citizen science and social media content analysis

Aim Gorgonian forests are among the most complex of subtidal habitats in the Mediterranean Sea, supporting high biodiversity and providing diverse ecosystem services. Despite their iconic status, the geographical distribution and condition of gorgonian species is poorly known. Using multiple online data sources, our primary aims were to compile, map and analyse observations of gorgonian forests in Italian coastal waters to assess the biological complexity of gorgonian forests, evaluate impacts and vulnerable species, and identify areas of special interest inside and outside of marine protected areas (MPAs) to help prioritize conservation strategies and actions. Location Italy. Mediterranean Sea. Methods Using a multi-source data integration approach, we collected and integrated data from scientific publications, the World Wide Web including social media platforms, citizen science projects and SCUBA diver questionnaires into a unified spatial framework. This method provided up-to-date information on the geographical distribution, abundance, and health of major habitat-forming gorgonian species in Italian coastal waters. Results Higher abundance and complexity of gorgonian species occurred outside MPAs. Areas of Special Interest (n = 167) were identified (80 inside and 87 outside MPAs). Three locations supported all seven focal species: Capo Caccia MPA, Portofino MPA and Catania (unprotected). The purple gorgonian (Paramuricea clavata), the most abundant and geographically widespread species with highest forest complexity, was affected by multiple stressors including thermal stress, disease and fishing. Main conclusions The multi-source approach was a rapid and cost-effective tool to gather, analyse and map disparate data on gorgonian forests spanning 27 years of underwater observations both inside and outside of MPAs. The unique perspective given by this approach demonstrates the suboptimal protection of several habitat-forming gorgonian species. The approach has great potential for wider application and offers a more inclusive participatory model for crowdsourcing and repurposing under-utilized observations while also increasing ocean literacy

Corporate real estate analysis: evaluating telecom branch efficiency in Greece

This paper proposes productivity analysis for evaluating the relative efficiency in corporate real estate usage across decision-making units. Using data from the Greek Telecommunications Organization (GTO), we measure the productivity of 127 braches using the number of employees and the total area covered per building as inputs and the number of telephony access lines as outputs. We apply three non-parametric Data Envelopment Analysis (DEA) models assuming: constant returns to scale (CRS), variable returns to scale (VRS) and slacks-based measures (SBM), respectively. We discuss how the proposed approach can provide real estate managers and analysts a multi informational tool that allows the quantification of targets and may serve as a guide tool for the efficient employment of real estate assets

Letter processing and font information during reading: beyond distinctiveness, where vision meets design

Letter identification is a critical front end of the reading process. In general, conceptualizations of the identification process have emphasized arbitrary sets of distinctive features. However, a richer view of letter processing incorporates principles from the field of type design, including an emphasis on uniformities across letters within a font. The importance of uniformities is supported by a small body of research indicating that consistency of font increases letter identification efficiency. We review design concepts and the relevant literature, with the goal of stimulating further thinking about letter processing during reading

Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under different conditions, and salting-out. We first analysed DNA using array CGH, which revealed a striking wave pattern suggesting primarily GC-rich cerebellar losses, even against matched frontal cortex DNA, with a similar pattern on a SNP array. The aCGH changes varied with the isolation protocol. Droplet digital PCR of two genes also showed protocol-dependent losses. Whole genome sequencing showed GC-dependent variation in coverage with spin column isolation from cerebellum. We also extracted and sequenced DNA from substantia nigra using salting-out and phenol / chloroform. The mtDNA copy number, assessed by reads mapping to the mitochondrial genome, was higher in substantia nigra when using phenol / chloroform. We thus provide evidence for significant method-dependent bias in DNA isolation from human brain, as reported in rat tissues. This may contribute to array "waves", and could affect copy number determination, particularly if mosaicism is being sought, and sequencing coverage. Variations in isolation protocol may also affect apparent mtDNA abundance

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Common genetic variation at human 8q23.3 is significantly associated with colorectal cancer (CRC) risk. To elucidate the basis of this association we compared the frequency of common variants at 8q23.3 in 1,964 CRC cases and 2,081 healthy controls. Reporter gene studies showed that the single nucleotide polymorphism rs16888589 acts as an allele-specific transcriptional repressor. Chromosome conformation capture (3C) analysis demonstrated that the genomic region harboring rs16888589 interacts with the promoter of gene for eukaryotic translation initiation factor 3, subunit H (EIF3H). We show that increased expression of EIF3H gene increases CRC growth and invasiveness thereby providing a biological mechanism for the 8q23.3 association. These data provide evidence for a functional basis for the non-coding risk variant rs16888589 at 8q23.3 and provides novel insight into the etiological basis of CRC

Probing the Functional Impact of Sequence Variation on p53-DNA Interactions Using a Novel Microsphere Assay for Protein-DNA Binding with Human Cell Extracts

The p53 tumor suppressor regulates its target genes through sequence-specific binding to DNA response elements (REs). Although numerous p53 REs are established, the thousands more identified by bioinformatics are not easily subjected to comparative functional evaluation. To examine the relationship between RE sequence variation—including polymorphisms—and p53 binding, we have developed a multiplex format microsphere assay of protein-DNA binding (MAPD) for p53 in nuclear extracts. Using MAPD we measured sequence-specific p53 binding of doxorubicin-activated or transiently expressed p53 to REs from established p53 target genes and p53 consensus REs. To assess the sensitivity and scalability of the assay, we tested 16 variants of the p21 target sequence and a 62-multiplex set of single nucleotide (nt) variants of the p53 consensus sequence and found many changes in p53 binding that are not captured by current computational binding models. A group of eight single nucleotide polymorphisms (SNPs) was examined and binding profiles closely matched transactivation capability tested in luciferase constructs. The in vitro binding characteristics of p53 in nuclear extracts recapitulated the cellular in vivo transactivation capabilities for eight well-established human REs measured by luciferase assay. Using a set of 26 bona fide REs, we observed distinct binding patterns characteristic of transiently expressed wild type and mutant p53s. This microsphere assay system utilizes biologically meaningful cell extracts in a multiplexed, quantitative, in vitro format that provides a powerful experimental tool for elucidating the functional impact of sequence polymorphism and protein variation on protein/DNA binding in transcriptional networks

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Recent studies have demonstrated genetic differences between monozygotic (MZ) twins. To test the hypothesis that early post-twinning mutational events associate with phenotypic discordance, we investigated a cohort of 13 twin pairs (n = 26) discordant for various clinical phenotypes using whole-exome sequencing and screened for copy number variation (CNV). We identified a de novo variant in PLCB1, a gene involved in the hydrolysis of lipid phosphorus in milk from dairy cows, associated with lactase non-persistence, and a variant in the mitochondrial complex I gene MT-ND5 associated with amyotrophic lateral sclerosis (ALS). We also found somatic variants in multiple genes (TMEM225B, KBTBD3, TUBGCP4, TFIP11) in another MZ twin pair discordant for ALS. Based on the assumption that discordance between twins could be explained by a common variant with variable penetrance or expressivity, we screened the twin samples for known pathogenic variants that are shared and identified a rare deletion overlapping ARHGAP11B, in the twin pair manifesting with either schizotypal personality disorder or schizophrenia. Parent-offspring trio analysis was implemented for two twin pairs to assess potential association of variants of parental origin with susceptibility to disease. We identified a de novo variant in RASD2 shared by 8-year-old male twins with a suspected diagnosis of autism spectrum disorder (ASD) manifesting as different traits. A de novo CNV duplication was also identified in these twins overlapping CD38, a gene previously implicated in ASD. In twins discordant for Tourette's syndrome, a paternally inherited stop loss variant was detected in AADAC, a known candidate gene for the disorder