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  • 1
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    Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations (2012)
    Oxford University Press
    Details
    Publikationsdatum: 2012-04-12
    Beschreibung: Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully understood. Myopalladin (MYPN) is a Z-disc protein expressed in striated muscle and functions as a structural, signaling and gene expression regulating molecule in response to muscle stress. MYPN was genetically screened in 900 patients with HCM, DCM and RCM, and disease-causing mechanisms were investigated using comparative immunohistochemical analysis of the patient myocardium and neonatal rat cardiomyocytes expressing mutant MYPN. Cardiac-restricted transgenic (Tg) mice were generated and protein–protein interactions were evaluated. Two nonsense and 13 missense MYPN variants were identified in subjects with DCM, HCM and RCM with the average cardiomyopathy prevalence of 1.66%. Functional studies were performed on two variants (Q529X and Y20C) associated with variable clinical phenotypes. Humans carrying the Y20C-MYPN variant developed HCM or DCM, whereas Q529X-MYPN was found in familial RCM. Disturbed myofibrillogenesis with disruption of α-actinin2, desmin and cardiac ankyrin repeat protein (CARP) was evident in rat cardiomyocytes expressing MYPN Q529X . Cardiac-restricted MYPN Y20C Tg mice developed HCM and disrupted intercalated discs, with disturbed expression of desmin, desmoplakin, connexin43 and vinculin being evident. Failed nuclear translocation and reduced binding of Y20C-MYPN to CARP were demonstrated using in vitro and in vivo systems. MYPN mutations cause various forms of cardiomyopathy via different protein–protein interactions. Q529X-MYPN causes RCM via disturbed myofibrillogenesis, whereas Y20C-MYPN perturbs MYPN nuclear shuttling and leads to abnormal assembly of terminal Z-disc within the cardiac transitional junction and intercalated disc.
    Print ISSN: 0964-6906
    Digitale ISSN: 1460-2083
    Thema: Biologie , Medizin
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
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    The promise of comparative genomics in mammals (1999)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1999-10-16
    Beschreibung: Dense genetic maps of human, mouse, and rat genomes that are based on coding genes and on microsatellite and single-nucleotide polymorphism markers have been complemented by precise gene homolog alignment with moderate-resolution maps of livestock, companion animals, and additional mammal species. Comparative genetic assessment expands the utility of these maps in gene discovery, in functional genomics, and in tracking the evolutionary forces that sculpted the genome organization of modern mammalian species.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉O'Brien, S J -- Menotti-Raymond, M -- Murphy, W J -- Nash, W G -- Wienberg, J -- Stanyon, R -- Copeland, N G -- Jenkins, N A -- Womack, J E -- Marshall Graves, J A -- New York, N.Y. -- Science. 1999 Oct 15;286(5439):458-62, 479-81.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10521336" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Animals, Domestic/genetics ; Base Sequence ; *Chromosome Mapping ; *Evolution, Molecular ; Genetic Markers ; *Genome ; *Genome, Human ; Humans ; Mammals/*genetics ; Mutation ; *Phylogeny ; Rodentia/genetics
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 3
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    Genomics. On choosing mammalian genomes for sequencing (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2001-06-26
    Beschreibung: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉O'Brien, S J -- Eizirik, E -- Murphy, W J -- New York, N.Y. -- Science. 2001 Jun 22;292(5525):2264-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702, USA. obrien@ncifcrf.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11423643" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Animals, Domestic/genetics ; Biological Evolution ; *Genome ; Genome, Human ; Humans ; Mammals/*genetics ; Models, Animal ; *Phylogeny ; Primates/genetics ; *Sequence Analysis, DNA
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
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    Genome maps 10. Comparative genomics. Mammalian radiations. Wall chart (1999)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1999-11-30
    Beschreibung: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉O'Brien, S J -- Eisenberg, J F -- Miyamoto, M -- Hedges, S B -- Kumar, S -- Wilson, D E -- Menotti-Raymond, M -- Murphy, W J -- Nash, W G -- Lyons, L A -- Menninger, J C -- Stanyon, R -- Wienberg, J -- Copeland, N G -- Jenkins, N A -- Gellin, J -- Yerle, M -- Andersson, L -- Womack, J -- Broad, T -- Postlethwait, J -- Serov, O -- Bailey, E -- James, M R -- Marshall Graves, J A -- New York, N.Y. -- Science. 1999 Oct 15;286(5439):463-78.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Cancer Institute, Frederick, MD, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10577209" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Base Sequence ; *Chromosome Mapping ; Chromosome Painting ; *Genome ; *Genome, Human ; Humans ; Mammals/*genetics ; Nucleic Acid Hybridization ; Phylogeny
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 5
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    Resolution of the early placental mammal radiation using Bayesian phylogenetics (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2001-12-18
    Beschreibung: Molecular phylogenetic studies have resolved placental mammals into four major groups, but have not established the full hierarchy of interordinal relationships, including the position of the root. The latter is critical for understanding the early biogeographic history of placentals. We investigated placental phylogeny using Bayesian and maximum-likelihood methods and a 16.4-kilobase molecular data set. Interordinal relationships are almost entirely resolved. The basal split is between Afrotheria and other placentals, at about 103 million years, and may be accounted for by the separation of South America and Africa in the Cretaceous. Crown-group Eutheria may have their most recent common ancestry in the Southern Hemisphere (Gondwana).〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Murphy, W J -- Eizirik, E -- O'Brien, S J -- Madsen, O -- Scally, M -- Douady, C J -- Teeling, E -- Ryder, O A -- Stanhope, M J -- de Jong, W W -- Springer, M S -- New York, N.Y. -- Science. 2001 Dec 14;294(5550):2348-51.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11743200" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Africa ; Animals ; Base Pairing ; *Bayes Theorem ; Biological Evolution ; Cell Nucleus/genetics ; Ecosystem ; Fossils ; Genes ; Genes, rRNA ; Likelihood Functions ; Mammals/*classification/*genetics ; Markov Chains ; Marsupialia/classification/genetics ; Mitochondria/genetics ; Monte Carlo Method ; *Phylogeny ; Placenta ; Probability ; Sequence Analysis, DNA ; South America
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 6
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    Technical comment on "The placental mammal ancestor and the post-K-Pg radiation of placentals" (2013)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2013-08-10
    Beschreibung: O'Leary et al. (Research Article, 8 February 2013, p. 662) examined mammalian relationships and divergence times and concluded that a single placental ancestor crossed the Cretaceous-Paleogene (K-Pg) boundary. This conclusion relies on phylogenetic analyses that fail to discriminate between homology and homoplasy and further implies virus-like rates of nucleotide substitution in early Paleocene placentals.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Springer, Mark S -- Meredith, Robert W -- Teeling, Emma C -- Murphy, William J -- New York, N.Y. -- Science. 2013 Aug 9;341(6146):613. doi: 10.1126/science.1238025.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, University of California, Riverside, CA 92521, USA. mark.springer@ucr.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23929967" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; *Biological Evolution ; Female ; *Fossils ; *Mammals ; *Phylogeny ; Pregnancy
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 7
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    Genomics. A dog's breakfast? (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2003-09-27
    Beschreibung: The genomes of human, mouse, and rat have been sequenced. Now, as O'Brien and Murphy announce in their Perspective, the genome sequence derby is heating up with the addition of dog to the list (Kirkness et al.). As they explain, even though the coverage of the dog genome (1.5x) is lower than that of mouse (8x), there are many valuable insights to be gained from comparing the sequence of dog with those of mouse and human.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉O'Brien, Stephen J -- Murphy, William J -- New York, N.Y. -- Science. 2003 Sep 26;301(5641):1854-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14512608" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Biological Evolution ; Chromosomes, Mammalian/genetics ; Computational Biology ; Conserved Sequence ; Contig Mapping ; DNA, Intergenic ; Dogs/*genetics ; Genetic Markers ; *Genome ; Genome, Human ; Genomics ; Humans ; Mice/genetics ; Mutation ; National Institutes of Health (U.S.) ; Radiation Hybrid Mapping ; *Sequence Analysis, DNA ; Sequence Homology, Nucleic Acid ; Species Specificity ; Synteny ; United States
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 8
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    Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2005-07-26
    Beschreibung: The genome organizations of eight phylogenetically distinct species from five mammalian orders were compared in order to address fundamental questions relating to mammalian chromosomal evolution. Rates of chromosome evolution within mammalian orders were found to increase since the Cretaceous-Tertiary boundary. Nearly 20% of chromosome breakpoint regions were reused during mammalian evolution; these reuse sites are also enriched for centromeres. Analysis of gene content in and around evolutionary breakpoint regions revealed increased gene density relative to the genome-wide average. We found that segmental duplications populate the majority of primate-specific breakpoints and often flank inverted chromosome segments, implicating their role in chromosomal rearrangement.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Murphy, William J -- Larkin, Denis M -- Everts-van der Wind, Annelie -- Bourque, Guillaume -- Tesler, Glenn -- Auvil, Loretta -- Beever, Jonathan E -- Chowdhary, Bhanu P -- Galibert, Francis -- Gatzke, Lisa -- Hitte, Christophe -- Meyers, Stacey N -- Milan, Denis -- Ostrander, Elaine A -- Pape, Greg -- Parker, Heidi G -- Raudsepp, Terje -- Rogatcheva, Margarita B -- Schook, Lawrence B -- Skow, Loren C -- Welge, Michael -- Womack, James E -- O'brien, Stephen J -- Pevzner, Pavel A -- Lewin, Harris A -- N01-CO-12400/CO/NCI NIH HHS/ -- R01CA-92167/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2005 Jul 22;309(5734):613-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA. wmurphy@cvm.tamu.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16040707" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Cats/genetics ; Cattle/genetics ; Centromere/genetics ; Chromosomal Instability ; Chromosome Aberrations ; *Chromosome Breakage ; Chromosome Inversion ; Chromosome Mapping ; Chromosomes, Human/genetics ; Chromosomes, Mammalian/*genetics ; Computational Biology ; Dogs/genetics ; *Evolution, Molecular ; *Genome ; Genome, Human ; Horses/genetics ; Humans ; Mammals/*genetics ; Mice/genetics ; Neoplasms/genetics ; Rats/genetics ; Swine/genetics ; *Synteny ; Telomere/genetics
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 9
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    A molecular phylogeny for bats illuminates biogeography and the fossil record (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2005-02-01
    Beschreibung: Bats make up more than 20% of extant mammals, yet their evolutionary history is largely unknown because of a limited fossil record and conflicting or incomplete phylogenies. Here, we present a highly resolved molecular phylogeny for all extant bat families. Our results support the hypothesis that megabats are nested among four major microbat lineages, which originated in the early Eocene [52 to 50 million years ago (Mya)], coincident with a significant global rise in temperature, increase in plant diversity and abundance, and the zenith of Tertiary insect diversity. Our data suggest that bats originated in Laurasia, possibly in North America, and that three of the major microbat lineages are Laurasian in origin, whereas the fourth is Gondwanan. Combining principles of ghost lineage analysis with molecular divergence dates, we estimate that the bat fossil record underestimates (unrepresented basal branch length, UBBL) first occurrences by, on average, 73% and that the sum of missing fossil history is 61%.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Teeling, Emma C -- Springer, Mark S -- Madsen, Ole -- Bates, Paul -- O'brien, Stephen J -- Murphy, William J -- N01-CO-12400/CO/NCI NIH HHS/ -- New York, N.Y. -- Science. 2005 Jan 28;307(5709):580-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, Basic Research Program, SAIC-Frederick, Inc., National Cancer Institute, Frederick, MD 21702, USA. emma.teeling@ucd.ie〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15681385" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Africa ; Animals ; Asia ; Bayes Theorem ; Biodiversity ; Biological Evolution ; Chiroptera/anatomy & histology/*classification/*genetics/physiology ; Echolocation ; Europe ; Flight, Animal ; *Fossils ; Genes ; Geography ; Likelihood Functions ; North America ; *Phylogeny ; Plants ; Sequence Analysis, DNA ; South America ; Temperature ; Time
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 10
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    The late Miocene radiation of modern Felidae: a genetic assessment (2006)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2006-01-10
    Beschreibung: Modern felid species descend from relatively recent (〈11 million years ago) divergence and speciation events that produced successful predatory carnivores worldwide but that have confounded taxonomic classifications. A highly resolved molecular phylogeny with divergence dates for all living cat species, derived from autosomal, X-linked, Y-linked, and mitochondrial gene segments (22,789 base pairs) and 16 fossil calibrations define eight principal lineages produced through at least 10 intercontinental migrations facilitated by sea-level fluctuations. A ghost lineage analysis indicates that available felid fossils underestimate (i.e., unrepresented basal branch length) first occurrence by an average of 76%, revealing a low representation of felid lineages in paleontological remains. The phylogenetic performance of distinct gene classes showed that Y-chromosome segments are appreciably more informative than mitochondrial DNA, X-linked, or autosomal genes in resolving the rapid Felidae species radiation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Johnson, Warren E -- Eizirik, Eduardo -- Pecon-Slattery, Jill -- Murphy, William J -- Antunes, Agostinho -- Teeling, Emma -- O'Brien, Stephen J -- N01-CO-12400/CO/NCI NIH HHS/ -- Intramural NIH HHS/ -- New York, N.Y. -- Science. 2006 Jan 6;311(5757):73-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201, USA. johnsonw@ncifcrf.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16400146" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Africa ; Americas ; Animals ; Asia ; *Biological Evolution ; Cats/classification/genetics ; DNA/genetics ; DNA, Mitochondrial/genetics ; Europe ; Felidae/*classification/*genetics ; Felis/classification/genetics ; Fossils ; Genes ; *Genetic Speciation ; Lynx/classification/genetics ; Panthera/classification/genetics ; Phylogeny ; Puma/classification/genetics ; X Chromosome/genetics ; Y Chromosome/genetics
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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