Browsing by Subject "INSERTION"

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  • Lutfullahoglu-Bal, Güleycan; Seferoglu, Ayse Bengisu; Keskin, Abdurrahman; Akdogan, Emel; Dunn, Cory D. (2018)
    Prokaryotes can provide new genetic information to eukaryotes by horizontal gene transfer (HGT), and such transfers are likely to have been particularly consequential in the era of eukaryogenesis. Since eukaryotes are highly compartmentalized, it is worthwhile to consider the mechanisms by which newly transferred proteins might reach diverse organellar destinations. Toward this goal, we have focused our attention upon the behavior of bacteria-derived tail anchors (TAs) expressed in the eukaryote Saccharomyces cerevisiae. In this study, we report that a predicted membrane-associated domain of the Escherichia coli YgiM protein is specifically trafficked to peroxisomes in budding yeast, can be found at a pre-peroxisomal compartment (PPC) upon disruption of peroxisomal biogenesis, and can functionally replace an endogenous, peroxisome-directed TA. Furthermore, the YgiM(TA) can localize to peroxisomes in mammalian cells. Since the YgiM(TA) plays no endogenous role in peroxisomal function or assembly, this domain is likely to serve as an excellent tool allowing further illumination of the mechanisms by which TAs can travel to peroxisomes. Moreover, our findings emphasize the ease with which bacteria-derived sequences might target to organelles in eukaryotic cells following HGT, and we discuss the importance of flexible recognition of organelle targeting information during and after eukaryogenesis.
  • Pausch, Hubert; Venhoranta, Heli; Wurmser, Christine; Hakala, Kalle; Iso-Touru, Terhi; Sironen, Anu; Vingborg, Rikke K.; Lohi, Hannes; Soderquist, Lennart; Fries, Ruedi; Andersson, Magnus (2016)
    Background: Artificial insemination is widely used in many cattle breeding programs. Semen samples of breeding bulls are collected and closely examined immediately after collection at artificial insemination centers. Only ejaculates without anomalous findings are retained for artificial insemination. Although morphological aberrations of the spermatozoa are a frequent reason for discarding ejaculates, the genetic determinants underlying poor semen quality are scarcely understood. Results: A tail stump sperm defect was observed in three bulls of the Swedish Red cattle breed. The spermatozoa of affected bulls were immotile because of severely disorganized tails indicating disturbed spermatogenesis. We genotyped three affected bulls and 18 unaffected male half-sibs at 46,035 SNPs and performed homozygosity mapping to map the fertility disorder to an 8.42 Mb interval on bovine chromosome 13. The analysis of whole-genome re-sequencing data of an affected bull and 300 unaffected animals from eleven cattle breeds other than Swedish Red revealed a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function. Conclusions: We report the phenotypic and genetic characterization of a sterilizing tail stump sperm defect in the Swedish Red cattle breed. Exploiting high-density genotypes and massive re-sequencing data enabled us to identify the most likely causal mutation for the fertility disorder in bovine ARMC3. Our results provide the basis for monitoring the mutated variant in the Swedish Red cattle population and for the early identification of infertile animals.
  • Pohjoranta, Elina; Suhonen, Satu; Gissler, Mika; Ikonen, Pirjo; Mentula, Maarit; Heikinheimo, Oskari (2020)
    STUDY QUESTION: Can the incidence of subsequent termination of pregnancy (TOP) be reduced by providing intrauterine contraception as part of the abortion service? SUMMARY ANSWER: Provision of an intrauterine device (IUD) as part of TOP services reduced the need for subsequent TOP but the effect was limited to the first 3 years of the 5-year follow-up. WHAT IS KNOWN ALREADY: An IUD is highly effective in preventing subsequent TOP. Prompt initiation of IUD use leads to a higher usage rate during follow-up, as compliance with post-TOP IUD insertion visits is low. STUDY DESIGN, SIZE, DURATION: The objective of this randomised controlled trial was to assess the effect of early comprehensive provision of intrauterine contraception after TOP, with primary outcome being the incidence of subsequent TOP during the 5 years of follow-up after the index abortion. This study was conducted at a tertiary care centre between 18 October 2010 and 21 January 2013. Altogether, 748 women undergoing a first trimester TOP were recruited and randomised into two groups. The intervention group (n = 375) was provided with an IUD during surgical TOP or 1-4 weeks following medical TOP at the hospital providing the abortion care. Women in the control group (n = 373) were advised to contact primary health care for follow-up and IUD insertion. Subsequent TOPs during the 5-year follow-up were identified from the Finnish Register on induced abortions. PARTICIPANTS/MATERIALS, SETTING, METHODS: The inclusion criteria were age >= 18 years, duration of gestation MAIN RESULTS AND THE ROLE OF CHANCE: The overall numbers of subsequent TOPs were 50 in the intervention and 72 in the control group (26.7 versus 38.6/1000 years of follow-up, P = 0.027), and those of requested TOPs, including TOPs and early pregnancy failures, were 58 and 76, respectively (30.9 versus 40.8/1000, P = 0.080). Altogether 40 (10.7%) women in the intervention and 63 (16.9%) in the control group underwent one or several subsequent TOPs (hazard ratio 1.67 [95% CI 1.13 to 2.49], P = 0.011). The number of TOPs was reduced by the intervention during years 0-3 (22.2 versus 46.5/1000, P = 0.035), but not during years 4-5 (33.3 versus 26.8/1000, P = 0.631). LIMITATIONS, REASONS FOR CAUTION: Both medical and surgical TOP were used. This may be seen as a limitation, but it also reflects the contemporary practice of abortion care. The immediate post-TOP care was provided by two different organizations, allowing us to compare two different ways of contraceptive service provision following TOP. WIDER IMPLICATIONS OF THE FINDINGS: Providing TOP and IUD insertion comprehensively in the same heath care unit leads to significantly higher rates of attendance, IUD use and a significantly lower risk of subsequent TOP.
  • Nieminen, Heta; Miikkulainen, Ville; Settipani, Daniel; Simonelli, Laura; Hönicke, Philipp; Zech, Claudia; Kayser, Yves; Beckhoff, Burkhard; Honkanen, Ari-Pekka; Heikkilä, Mikko; Mizohata, Kenichiro; Meinander, Nils Kristoffer; Ylivaara, Oili M. E.; Huotari, Simo; Ritala, Mikko (2019)
    LiMn2O4 is a promising candidate for a cathode material in lithium-ion batteries because of its ability to intercalate lithium ions reversibly through its three-dimensional manganese oxide network. One of the promising techniques for depositing LiMn2O4 thin-film cathodes is atomic layer deposition (ALD). Because of its unparalleled film thickness control and film conformality, ALD helps to fulfill the industry demands for smaller devices, nanostructured electrodes, and all-solid-state batteries. In this work, the intercalation mechanism of Li+ ions into an ALD-grown beta-MnO2 thin film was studied. Samples were prepared by pulsing (LiOBu)-Bu-t and H2O for different cycle numbers onto about 100 nm thick MnO2 films at 225 degrees C and characterized with X-ray absorption spectroscopy, X-ray diffraction, X-ray reflectivity, time-of-flight elastic recoil detection analysis, and residual stress measurements. It is proposed that for
  • Ruohoalho, Johanna; Aro, Katri; Makitie, Antti A.; Atula, Timo; Haapaniemi, Aaro; Keski-Santti, Harri; Kylanpaa, Leena; Takala, Annika; Back, Leif J. (2017)
    Percutaneous endoscopic gastrostomy (PEG) is often the treatment of choice in head and neck cancer (HNC) patients needing long-term nutritional support. Prospective studies on PEG tube placement in an otorhinolaryngologist service are lacking. At our hospital, otolaryngologist-head and neck (ORL-HN) surgeons-have performed PEG insertions for HNC patients since 2008. We prospectively analyzed 127 consecutive HNC patients who received their PEG tubes at the Department of Otorhinolaryngology-head and neck surgery, and evaluated the outcome of PEG tube insertions performed by ORL-HN surgeons. To compare time delays before and after, PEG placement service was transferred from gastrointestinal surgeons to ORL-HN surgeons, and we retrospectively analyzed a separate group of 110 HNC patients who had earlier received PEG tubes at the Department of Gastrointestinal Surgery. ORL-HN surgeons' success rate in PEG insertion was 97.6%, leading to a final prospective study group of 124 patients. Major complications occurred in four (3.2%): two buried bumper syndromes, one subcutaneous hemorrhage leading to an abscess in the abdominal wall, and one metastasis at the PEG site. The most common minor complication was peristomal granulomatous tissue affecting 23 (18.5%) patients. After the change in practice, median time delay before PEG insertion decreased from 13 to 10 days (P <0.005). The proportion of early PEG placements within 0-3 days increased from 3.6 to 14.6% (P <0.005). PEG tube insertion seems to be a safe procedure in the hands of an ORL-HN surgeon. Independence from gastrointestinal surgeons' services reduced the time delay and improved the availability of urgent PEG insertions.
  • Paliwal, Vasundhara; Raju, Sajan C.; Modak, Arnab; Phale, Prashant S.; Purohit, Hemant J. (2014)
  • Hitti, Rebekkah J.; Oliver, James A. C.; Schofield, Ellen C.; Bauer, Anina; Kaukonen, Maria; Forman, Oliver P.; Leeb, Tosso; Lohi, Hannes; Burmeister, Louise M.; Sargan, David; Mellersh, Cathryn S. (2019)
    Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. PRAs are untreatable and affect multiple dog breeds, significantly impacting welfare. Three out of seven Giant Schnauzer (GS) littermates presented with PRA around four years of age. We sought to identify the causal variant to improve our understanding of the aetiology of this form of PRA and to enable development of a DNA test. Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents was performed. Variants were filtered based on those segregating appropriately for an autosomal recessive disorder and predicted to be deleterious. Successive filtering against 568 canine genomes identified a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.Gly182Arg). Five thousand one hundred and thirty canids of 175 breeds, 10 cross-breeds and 3 wolves were genotyped for c.544G>A. Only the three PRA-affected GS were homozygous (allele frequency in GS, excluding proband family = 0.015). In addition, we identified heterozygotes belonging to Spitz and Dachshund varieties, demonstrating c.544G>A segregates in other breeds of German origin. This study, in parallel with the known retinal expression and role of NECAP1 in clathrin mediated endocytosis (CME) in synapses, presents NECAP1 as a novel candidate gene for retinal degeneration in dogs and other species.