50 research outputs found

    Diversity and taxonomy of Ampharetidae (Polychaeta) from Icelandic waters

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    Based on material collected during the BIOICE project off Iceland, the taxonomy and distribution of seventeen species (11 genera) of polychaetous annelids belonging to the family Ampharetidae (Annelida; Polychaeta) is reviewed. Eleven of these species were pre- viously reported in the area or nearby areas: Amage auricula, Anobothrus gracilis, Glyp- hanostomum pallescens, Grubianella klugei, Lysippe fragilis, L. labiata, L. sexcirrata, L. vanelli, Samythella elongata, Sosane bathyalis and S. wireni. Five species, Amage benhami, Melinnampharete eoa, Noanelia hartmanae, Ymerana pteropoda and Zatsepinia rittichae, either never or only once reported after original description, are redescribed or discussed. A potentially new species, Amage sp., is described but not named because only one specimen is present. Several body characters of high taxonomic relevance in Ampha- retidae are reviewed using SEM. The distribution of each species off Iceland is provided

    Taxonomy and distribution of the genus "Amphicteis" (Polychaeta: Ampharetidae) collected by the BIOICE project in Icelandic waters

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    Based on material collected during the BIOICE project off Iceland, four species of polychaetous annelids belonging to the genus Amphicteis Grube, 1850 (Polychaeta: Ampharetidae) were found: Amphicteis gunneri, Amphicteis ninonae, Amphicteis vestis and Amphicteis wesenbergae sp. nov. The differences between A. gunneriand A. ninonae, two species usually confused in the literature, are reviewed. Amphicteis vestis is described from newly collected material and its taxonomy in relation to other ampharetid taxa with modified notopodia is discussed. Amphicteis wesenbergae sp. nov. is described; the new species is characterized by the presence of long, slender and evenly tapered paleae, and long dorsal cirri on thoracic and abdominal neuropodia. Several body characters with high value in Amphicteis taxonomy, particularly the dorsolateral protrusions of abdominal chaetigers called rudimentary notopodia, are reviewed using scanning electron microscopy. A key to species of the genus Amphicteis described or reported in European Boreo-Arctic waters is provided.European Commission; DK-TAF-3118European Commission; SE-TAF-459

    Polychaetes of the genus "Ampharete" (Polychaeta: Ampharetidae) collected in Icelandic waters during the BIOICE project

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    Based on material collected during the BIOICE project off Iceland, the taxonomy and distribution of eight species of polychaetous annelids belonging to the genus Ampharete(Polychaeta: Ampharetidae) are reviewed. Five of these species were previously reported in the area: Ampharete acutifrons, Ampharete borealis, Ampharete finmarchica, Ampharete octocirrata and Ampharete petersenae; two are new to Icelandic waters: Ampharetebaltica andAmpharete lindstroemi; and one is new to science: Ampharete villenai sp. nov. A. petersenaewas found for the first time after the original description and is redescribed. A. villenai sp. nov. is primarily characterized by the size, shape and disposition of the paleae, a special kind of chaetae located on the first body chaetiger. Several body characters of high taxonomic relevance in Ampharetidae are reviewed under the SEM. The distribution of each species off the coast of Iceland and a key to all species recorded in European Boreo-Arctic waters is provided.European Commission; DK-TAF-3118European Commission; SE-TAF-459

    Taxonomy and distribution of Pectinariidae (Annelida) from Iceland with a comparative analysis of uncinal morphology

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    [Abstract]: Based on samples collected during the BIOICE project off Iceland, four species of marine annelids belonging to the family Pectinariidae were identified: “Amphictene auricoma” (O.F. Müller, 1776), “Cistenides granulate” (Linnaeus, 1767), “Cistenides hyperborean” Malmgren, 1865 and “Lagis koreni” Malmgren, 1866. Taxonomic remarks and data on geographical and bathymetric distribution are presented. The distribution of each species off Iceland was evaluated and two patterns were defined: “C. granulate” and “C. hyperborean” were mainly found in waters off the northeast coast, while “A. auricoma” and “L. koreni” were found on the southern coast. Several body characters with taxonomic value in this family were reviewed under the stereo microscope and scanning electron microscope, with special emphasis on the neuropodial uncini. Remarks on these special chaetae are included in the diagnoses.Ministerio de Ciencia, Innovación y Universidades; PGC2018-095851-B-C6

    Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

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    To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 × 10(-6)]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat-Alu (SINE-VNTR-Alu), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed associations with both the splicing anomalies (P = 6.5 × 10(-32)) and with protection against prostate cancer (OR = 0.91, P = 3.8 × 10(-7)).National Cancer Research Institute (NCRI) G0500966/75466 Department of Health, Medical Research Council Cancer Research UK University of Cambridge NIHR Department of Health Anniversary Fund of the Austrian National Bank 15079 Medical and Scientific Fund of the Mayor of the City of Vienna 10077 Common Fund of the Office of the Director of the National Institutes of Health NCI NHGRI NHLBI NIDA NIMH NINDS NCI\SAIC-Frederick, Inc. (SAIC-F) 10XS170 Roswell Park Cancer Institute 10XS171 Science Care, Inc. X10S172 SAIC-F 10ST1035 HHSN261200800001E deCODE genetics/AMGEN HHSN268201000029C DA006227 DA033684 N01MH000028 MH090941 MH101814 MH090951 MH090937 MH101820 MH101825 MH090936 MH101819 MH090948 MH101782 MH101810 MH10182

    Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

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    Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.</p

    A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

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    Efst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinnIL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with eosinophil counts and asthma. Through whole-genome sequencing and imputation into the Icelandic population, we found a rare variant in IL33 (NM_001199640:exon7:c.487-1G>C (rs146597587-C), allele frequency = 0.65%) that disrupts a canonical splice acceptor site before the last coding exon. It is also found at low frequency in European populations. rs146597587-C associates with lower eosinophil counts (β = -0.21 SD, P = 2.5×10-16, N = 103,104), and reduced risk of asthma in Europeans (OR = 0.47; 95%CI: 0.32, 0.70, P = 1.8×10-4, N cases = 6,465, N controls = 302,977). Heterozygotes have about 40% lower total IL33 mRNA expression than non-carriers and allele-specific analysis based on RNA sequencing and phased genotypes shows that only 20% of the total expression is from the mutated chromosome. In half of those transcripts the mutation causes retention of the last intron, predicted to result in a premature stop codon that leads to truncation of 66 amino acids. The truncated IL-33 has normal intracellular localization but neither binds IL-33R/ST2 nor activates ST2-expressing cells. Together these data demonstrate that rs146597587-C is a loss of function mutation and support the hypothesis that IL-33 haploinsufficiency protects against asthma.Netherlands Asthma Foundation University Medical Center Groningen Ministry of Health and Environmental Hygiene of Netherlands Netherlands Asthma Stichting Astma Bestrijding BBMRI European Respiratory Society private and public research funds AstraZeneca ALK-Abello, Denmar
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