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  • 1
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    From expression cloning to gene modeling: The development of Xenopus gene sequence resources (2012)
    Wiley
    In: Genesis
    Details
    Publication Date: 2012-03-04
    Description: The Xenopus community has made concerted efforts over the last 10–12 years systematically to improve the available sequence information for this amphibian model organism ideally suited to the study of early development in vertebrates. Here I review progress in the collection of both sequence data and physical clone reagents for protein coding genes. I conclude that we have cDNA sequences for around 50% and full-length clones for about 35% of the genes in Xenopus tropicalis , and similar numbers but a smaller proportion for Xenopus laevis . In addition, I demonstrate that the gaps in the current genome assembly create problems for the computational elucidation of gene sequences, and suggest some ways to ameliorate the effects of this. genesis 50:143–154, 2012. © 2012 Wiley Periodicals, Inc.
    Topics: Biology , Medicine
    Published by Wiley
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  • 2
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    Children with autism are neither systematic nor optimal foragers [Psychological and Cognitive Sciences] (2011)
    National Academy of Sciences
    Details
    Publication Date: 2011-01-05
    Description: It is well established that children with autism often show outstanding visual search skills. To date, however, no study has tested whether these skills, usually assessed on a table-top or computer, translate to more true-to-life settings. One prominent account of autism, Baron-Cohen's “systemizing” theory, gives us good reason to suspect that they should. In this study, we tested whether autistic children's exceptional skills at small-scale search extend to a large-scale environment and, in so doing, tested key claims of the systemizing account. Twenty school-age children with autism and 20 age- and ability-matched typical children took part in a large-scale search task in the “foraging room”: a purpose-built laboratory, with numerous possible search locations embedded into the floor. Children were instructed to search an array of 16 (green) locations to find the hidden (red) target as quickly as possible. The distribution of target locations was manipulated so that they appeared on one side of the midline for 80% of trials. Contrary to predictions of the systemizing account, autistic children's search behavior was much less efficient than that of typical children: they showed reduced sensitivity to the statistical properties of the search array, and furthermore, their search patterns were strikingly less optimal and less systematic. The nature of large-scale search behavior in autism cannot therefore be explained by a facility for systemizing. Rather, children with autism showed difficulties exploring and exploiting the large-scale space, which might instead be attributed to constraints (rather than benefits) in their cognitive repertoire.
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 3
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    Reply to Nemeth and Janacsek: Children with autism learn to search differently in a large-scale context [Letters (Online Only)] (2011)
    National Academy of Sciences
    Details
    Publication Date: 2011-04-13
    Description: Nemeth and Janacsek's (1) letter highlights two findings from our study (2) that seem to be at odds with those from existing studies.First, they suggest that our finding of autistic children's difficulties with searching in a large-scale environment is due to the demands on global processing compared with searching on a smaller scale (e.g., on a computer screen), for which there are fewer such demands. We wholeheartedly agree with this suggestion. Studies have consistently demonstrated that individuals with autism outperform comparison individuals on small-scale visual search tasks and that this outstanding performance is most likely attributable not to attention-related processes...
    Keywords: Letters
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 4
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    Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-03-03
    Description: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kwiatkowski, T J Jr -- Bosco, D A -- Leclerc, A L -- Tamrazian, E -- Vanderburg, C R -- Russ, C -- Davis, A -- Gilchrist, J -- Kasarskis, E J -- Munsat, T -- Valdmanis, P -- Rouleau, G A -- Hosler, B A -- Cortelli, P -- de Jong, P J -- Yoshinaga, Y -- Haines, J L -- Pericak-Vance, M A -- Yan, J -- Ticozzi, N -- Siddique, T -- McKenna-Yasek, D -- Sapp, P C -- Horvitz, H R -- Landers, J E -- Brown, R H Jr -- New York, N.Y. -- Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA. tkwiatkowski@partners.org〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19251627" target="_blank"〉PubMed〈/a〉
    Keywords: Age of Onset ; Amino Acid Substitution ; Amyotrophic Lateral Sclerosis/*genetics/metabolism/pathology ; Animals ; Brain/pathology ; Cell Line, Tumor ; Cell Nucleus/metabolism ; Chromosomes, Human, Pair 16/*genetics ; Cytoplasm/metabolism ; DNA-Binding Proteins/genetics/metabolism ; Exons ; Female ; Humans ; Male ; Mice ; Motor Neurons/chemistry/metabolism/ultrastructure ; Mutant Proteins/chemistry/genetics/metabolism ; *Mutation, Missense ; Neurons/metabolism/ultrastructure ; RNA/metabolism ; RNA-Binding Protein FUS/chemistry/*genetics/*metabolism ; Recombinant Fusion Proteins/metabolism ; Sequence Analysis, DNA ; Spinal Cord/pathology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
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    Rsx is a metatherian RNA with Xist-like properties in X-chromosome inactivation (2012)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2012-06-23
    Description: In female (XX) mammals, one of the two X chromosomes is inactivated to ensure an equal dose of X-linked genes with males (XY). X-chromosome inactivation in eutherian mammals is mediated by the non-coding RNA Xist. Xist is not found in metatherians (marsupials), and how X-chromosome inactivation is initiated in these mammals has been the subject of speculation for decades. Using the marsupial Monodelphis domestica, here we identify Rsx (RNA-on-the-silent X), an RNA that has properties consistent with a role in X-chromosome inactivation. Rsx is a large, repeat-rich RNA that is expressed only in females and is transcribed from, and coats, the inactive X chromosome. In female germ cells, in which both X chromosomes are active, Rsx is silenced, linking Rsx expression to X-chromosome inactivation and reactivation. Integration of an Rsx transgene on an autosome in mouse embryonic stem cells leads to gene silencing in cis. Our findings permit comparative studies of X-chromosome inactivation in mammals and pose questions about the mechanisms by which X-chromosome inactivation is achieved in eutherians.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484893/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484893/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Grant, Jennifer -- Mahadevaiah, Shantha K -- Khil, Pavel -- Sangrithi, Mahesh N -- Royo, Helene -- Duckworth, Janine -- McCarrey, John R -- VandeBerg, John L -- Renfree, Marilyn B -- Taylor, Willie -- Elgar, Greg -- Camerini-Otero, R Daniel -- Gilchrist, Mike J -- Turner, James M A -- HD60858/HD/NICHD NIH HHS/ -- MC_U117597137/Medical Research Council/United Kingdom -- MC_U117597141/Medical Research Council/United Kingdom -- U117581331/Medical Research Council/United Kingdom -- U117588498/Medical Research Council/United Kingdom -- U117597137/Medical Research Council/United Kingdom -- U117597141/Medical Research Council/United Kingdom -- Z99 DK999999/Intramural NIH HHS/ -- ZIA DK052035-05/Intramural NIH HHS/ -- England -- Nature. 2012 Jul 12;487(7406):254-8. doi: 10.1038/nature11171.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW71AA, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22722828" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Female ; Gene Expression Regulation ; Gene Silencing ; Mice ; Monodelphis/*genetics/*metabolism ; RNA/*genetics/*metabolism ; Transgenes ; X Chromosome/*genetics/*metabolism ; *X Chromosome Inactivation
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 6
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    Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults (2010)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2010-04-24
    Description: Nontyphoidal Salmonellae are a major cause of life-threatening bacteremia among HIV-infected individuals. Although cell-mediated immunity controls intracellular infection, antibodies protect against Salmonella bacteremia. We report that high-titer antibodies specific for Salmonella lipopolysaccharide (LPS) are associated with a lack of Salmonella-killing in HIV-infected African adults. Killing was restored by genetically shortening LPS from the target Salmonella or removing LPS-specific antibodies from serum. Complement-mediated killing of Salmonella by healthy serum is shown to be induced specifically by antibodies against outer membrane proteins. This killing is lost when excess antibody against Salmonella LPS is added. Thus, our study indicates that impaired immunity against nontyphoidal Salmonella bacteremia in HIV infection results from excess inhibitory antibodies against Salmonella LPS, whereas serum killing of Salmonella is induced by antibodies against outer membrane proteins.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772309/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772309/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉MacLennan, Calman A -- Gilchrist, James J -- Gordon, Melita A -- Cunningham, Adam F -- Cobbold, Mark -- Goodall, Margaret -- Kingsley, Robert A -- van Oosterhout, Joep J G -- Msefula, Chisomo L -- Mandala, Wilson L -- Leyton, Denisse L -- Marshall, Jennifer L -- Gondwe, Esther N -- Bobat, Saeeda -- Lopez-Macias, Constantino -- Doffinger, Rainer -- Henderson, Ian R -- Zijlstra, Eduard E -- Dougan, Gordon -- Drayson, Mark T -- MacLennan, Ian C M -- Molyneux, Malcolm E -- 067321/Wellcome Trust/United Kingdom -- BB/F022778/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- G0701275/Medical Research Council/United Kingdom -- G108/574/Medical Research Council/United Kingdom -- G8402371/Medical Research Council/United Kingdom -- G9818340/Medical Research Council/United Kingdom -- Biotechnology and Biological Sciences Research Council/United Kingdom -- Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2010 Apr 23;328(5977):508-12. doi: 10.1126/science.1180346.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Medical Research Council Centre for Immune Regulation and Clinical Immunology Service, Institute of Biomedical Research, School of Immunity and Infection, University of Birmingham, Birmingham, UK. c.maclennan@bham.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20413503" target="_blank"〉PubMed〈/a〉
    Keywords: AIDS-Related Opportunistic Infections/immunology ; Adult ; Animals ; Antibodies, Bacterial/blood/*immunology ; Antibodies, Blocking/blood/*immunology ; Bacteremia/immunology ; Bacterial Outer Membrane Proteins/*immunology ; Complement Activation ; Disease Susceptibility ; HIV Infections/complications/*immunology ; Humans ; Immunoglobulin G/blood/immunology ; Lipopolysaccharides/blood/*immunology ; Malawi ; Mice ; Mutation ; O Antigens/*immunology ; Salmonella Infections/*immunology ; Salmonella typhimurium/genetics/*immunology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 7
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    The genome of the Western clawed frog Xenopus tropicalis (2010)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2010-05-01
    Description: The western clawed frog Xenopus tropicalis is an important model for vertebrate development that combines experimental advantages of the African clawed frog Xenopus laevis with more tractable genetics. Here we present a draft genome sequence assembly of X. tropicalis. This genome encodes more than 20,000 protein-coding genes, including orthologs of at least 1700 human disease genes. Over 1 million expressed sequence tags validated the annotation. More than one-third of the genome consists of transposable elements, with unusually prevalent DNA transposons. Like that of other tetrapods, the genome of X. tropicalis contains gene deserts enriched for conserved noncoding elements. The genome exhibits substantial shared synteny with human and chicken over major parts of large chromosomes, broken by lineage-specific chromosome fusions and fissions, mainly in the mammalian lineage.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994648/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994648/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hellsten, Uffe -- Harland, Richard M -- Gilchrist, Michael J -- Hendrix, David -- Jurka, Jerzy -- Kapitonov, Vladimir -- Ovcharenko, Ivan -- Putnam, Nicholas H -- Shu, Shengqiang -- Taher, Leila -- Blitz, Ira L -- Blumberg, Bruce -- Dichmann, Darwin S -- Dubchak, Inna -- Amaya, Enrique -- Detter, John C -- Fletcher, Russell -- Gerhard, Daniela S -- Goodstein, David -- Graves, Tina -- Grigoriev, Igor V -- Grimwood, Jane -- Kawashima, Takeshi -- Lindquist, Erika -- Lucas, Susan M -- Mead, Paul E -- Mitros, Therese -- Ogino, Hajime -- Ohta, Yuko -- Poliakov, Alexander V -- Pollet, Nicolas -- Robert, Jacques -- Salamov, Asaf -- Sater, Amy K -- Schmutz, Jeremy -- Terry, Astrid -- Vize, Peter D -- Warren, Wesley C -- Wells, Dan -- Wills, Andrea -- Wilson, Richard K -- Zimmerman, Lyle B -- Zorn, Aaron M -- Grainger, Robert -- Grammer, Timothy -- Khokha, Mustafa K -- Richardson, Paul M -- Rokhsar, Daniel S -- HHSN261200800001E/CA/NCI NIH HHS/ -- MC_U117560482/Medical Research Council/United Kingdom -- P41 HD064556/HD/NICHD NIH HHS/ -- P41 HD064556-01/HD/NICHD NIH HHS/ -- P41 HD064556-02/HD/NICHD NIH HHS/ -- R01 AI027877/AI/NIAID NIH HHS/ -- R01 AI027877-20/AI/NIAID NIH HHS/ -- R01 DK070858/DK/NIDDK NIH HHS/ -- R01 DK070858-05/DK/NIDDK NIH HHS/ -- R01 EY018000/EY/NEI NIH HHS/ -- R01 EY018000-03/EY/NEI NIH HHS/ -- R01 GM060572/GM/NIGMS NIH HHS/ -- R01 GM060572-05/GM/NIGMS NIH HHS/ -- R01 GM086321/GM/NIGMS NIH HHS/ -- R01 GM086321-03/GM/NIGMS NIH HHS/ -- R01 HD042294/HD/NICHD NIH HHS/ -- R01 HD042294-05/HD/NICHD NIH HHS/ -- R01 HD045776/HD/NICHD NIH HHS/ -- R01 HD045776-05/HD/NICHD NIH HHS/ -- R01 HD046661-03/HD/NICHD NIH HHS/ -- R01 MH079381/MH/NIMH NIH HHS/ -- R01 MH079381-02/MH/NIMH NIH HHS/ -- R21 HD065713/HD/NICHD NIH HHS/ -- R24 AI059830/AI/NIAID NIH HHS/ -- R24 AI059830-08/AI/NIAID NIH HHS/ -- R24 RR015088/RR/NCRR NIH HHS/ -- R24 RR015088-03/RR/NCRR NIH HHS/ -- U01 HG002155-05/HG/NHGRI NIH HHS/ -- U01 HG02155/HG/NHGRI NIH HHS/ -- Intramural NIH HHS/ -- New York, N.Y. -- Science. 2010 Apr 30;328(5978):633-6. doi: 10.1126/science.1183670.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA. uhellsten@lbl.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20431018" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chickens/genetics ; Chromosome Mapping ; Chromosomes/genetics ; Computational Biology ; Conserved Sequence ; DNA Transposable Elements ; DNA, Complementary ; Embryo, Nonmammalian/metabolism ; Evolution, Molecular ; Expressed Sequence Tags ; Gene Duplication ; Genes ; *Genome ; Humans ; Phylogeny ; *Sequence Analysis, DNA ; Synteny ; Vertebrates/genetics ; Xenopus/embryology/*genetics ; Xenopus Proteins/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 8
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    Genetic variation in VAC14 is associated with bacteremia secondary to diverse pathogens in African children [Biological Sciences] (2018)
    National Academy of Sciences
    Details
    Publication Date: 2018-04-18
    Description: Performing a genome-wide association study of Salmonella enterica serovar Typhi (S. Typhi) invasion, Alvarez et al. (1) identify a trait-associated SNP, rs8060947, in VAC14. rs8060947 is an expression quantitative trait locus for VAC14 RNA expression, and carriage of the A allele is associated with reduced VAC14 RNA and protein expression,...
    Keywords: Letters
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 9
    Electronic Resource
    Electronic Resource
    Critical state model: comparison of transverse and elongated geometries
    Amsterdam : Elsevier
    Physica C: Superconductivity and its applications 219 (1994), S. 67-70 
    Details
    ISSN: 0921-4534
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0921-4534(94)90014-0
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  • 10
    Electronic Resource
    Electronic Resource
    Nonlinear diffusion in hard and soft superconductors
    Amsterdam : Elsevier
    Physica C: Superconductivity and its applications 231 (1994), S. 147-156 
    Details
    ISSN: 0921-4534
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0921-4534(94)90154-6
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