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  • Alleles  (22)
  • American Association for the Advancement of Science (AAAS)  (22)
  • American Association for the Advancement of Science
  • Springer Nature
  • 2000-2004  (22)
  • 1995-1999
  • 1980-1984
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  • 2002  (22)
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  • American Association for the Advancement of Science (AAAS)  (22)
  • American Association for the Advancement of Science
  • Springer Nature
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  • 2000-2004  (22)
  • 1995-1999
  • 1980-1984
  • 1940-1944
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  • 1
    Publication Date: 2002-12-14
    Description: The first chordates appear in the fossil record at the time of the Cambrian explosion, nearly 550 million years ago. The modern ascidian tadpole represents a plausible approximation to these ancestral chordates. To illuminate the origins of chordate and vertebrates, we generated a draft of the protein-coding portion of the genome of the most studied ascidian, Ciona intestinalis. The Ciona genome contains approximately 16,000 protein-coding genes, similar to the number in other invertebrates, but only half that found in vertebrates. Vertebrate gene families are typically found in simplified form in Ciona, suggesting that ascidians contain the basic ancestral complement of genes involved in cell signaling and development. The ascidian genome has also acquired a number of lineage-specific innovations, including a group of genes engaged in cellulose metabolism that are related to those in bacteria and fungi.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dehal, Paramvir -- Satou, Yutaka -- Campbell, Robert K -- Chapman, Jarrod -- Degnan, Bernard -- De Tomaso, Anthony -- Davidson, Brad -- Di Gregorio, Anna -- Gelpke, Maarten -- Goodstein, David M -- Harafuji, Naoe -- Hastings, Kenneth E M -- Ho, Isaac -- Hotta, Kohji -- Huang, Wayne -- Kawashima, Takeshi -- Lemaire, Patrick -- Martinez, Diego -- Meinertzhagen, Ian A -- Necula, Simona -- Nonaka, Masaru -- Putnam, Nik -- Rash, Sam -- Saiga, Hidetoshi -- Satake, Masanobu -- Terry, Astrid -- Yamada, Lixy -- Wang, Hong-Gang -- Awazu, Satoko -- Azumi, Kaoru -- Boore, Jeffrey -- Branno, Margherita -- Chin-Bow, Stephen -- DeSantis, Rosaria -- Doyle, Sharon -- Francino, Pilar -- Keys, David N -- Haga, Shinobu -- Hayashi, Hiroko -- Hino, Kyosuke -- Imai, Kaoru S -- Inaba, Kazuo -- Kano, Shungo -- Kobayashi, Kenji -- Kobayashi, Mari -- Lee, Byung-In -- Makabe, Kazuhiro W -- Manohar, Chitra -- Matassi, Giorgio -- Medina, Monica -- Mochizuki, Yasuaki -- Mount, Steve -- Morishita, Tomomi -- Miura, Sachiko -- Nakayama, Akie -- Nishizaka, Satoko -- Nomoto, Hisayo -- Ohta, Fumiko -- Oishi, Kazuko -- Rigoutsos, Isidore -- Sano, Masako -- Sasaki, Akane -- Sasakura, Yasunori -- Shoguchi, Eiichi -- Shin-i, Tadasu -- Spagnuolo, Antoinetta -- Stainier, Didier -- Suzuki, Miho M -- Tassy, Olivier -- Takatori, Naohito -- Tokuoka, Miki -- Yagi, Kasumi -- Yoshizaki, Fumiko -- Wada, Shuichi -- Zhang, Cindy -- Hyatt, P Douglas -- Larimer, Frank -- Detter, Chris -- Doggett, Norman -- Glavina, Tijana -- Hawkins, Trevor -- Richardson, Paul -- Lucas, Susan -- Kohara, Yuji -- Levine, Michael -- Satoh, Nori -- Rokhsar, Daniel S -- HD-37105/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2002 Dec 13;298(5601):2157-67.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉U.S. Department of Energy Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, CA 94598, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12481130" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Apoptosis ; Base Sequence ; Cellulose/metabolism ; Central Nervous System/physiology ; Ciona intestinalis/anatomy & histology/classification/*genetics/physiology ; Computational Biology ; Endocrine System/physiology ; Gene Dosage ; Gene Duplication ; Genes ; Genes, Homeobox ; *Genome ; Heart/embryology/physiology ; Immunity/genetics ; Molecular Sequence Data ; Multigene Family ; Muscle Proteins/genetics ; Organizers, Embryonic/physiology ; Phylogeny ; Polymorphism, Genetic ; Proteins/genetics/physiology ; *Sequence Analysis, DNA ; Sequence Homology, Nucleic Acid ; Species Specificity ; Thyroid Gland/physiology ; Urochordata/genetics ; Vertebrates/anatomy & histology/classification/genetics/physiology
    Print ISSN: 0036-8075
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  • 2
    Publication Date: 2002-04-27
    Description: Reports of substantial evidence for genetic linkage of schizophrenia to chromosome 1q were evaluated by genotyping 16 DNA markers across 107 centimorgans of this chromosome in a multicenter sample of 779 informative schizophrenia pedigrees. No significant evidence was observed for such linkage, nor for heterogeneity in allele sharing among the eight individual samples. Separate analyses of European-origin families, recessive models of inheritance, and families with larger numbers of affected cases also failed to produce significant evidence for linkage. If schizophrenia susceptibility genes are present on chromosome 1q, their population-wide genetic effects are likely to be small.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Levinson, Douglas F -- Holmans, Peter A -- Laurent, Claudine -- Riley, Brien -- Pulver, Ann E -- Gejman, Pablo V -- Schwab, Sibylle G -- Williams, Nigel M -- Owen, Michael J -- Wildenauer, Dieter B -- Sanders, Alan R -- Nestadt, Gerald -- Mowry, Bryan J -- Wormley, Brandon -- Bauche, Stephanie -- Soubigou, Stephane -- Ribble, Robert -- Nertney, Deborah A -- Liang, Kung Yee -- Martinolich, Laura -- Maier, Wolfgang -- Norton, Nadine -- Williams, Hywel -- Albus, Margot -- Carpenter, Eric B -- DeMarchi, Nicola -- Ewen-White, Kelly R -- Walsh, Dermot -- Jay, Maurice -- Deleuze, Jean-Francois -- O'Neill, F Anthony -- Papadimitriou, George -- Weilbaecher, Ann -- Lerer, Bernard -- O'Donovan, Michael C -- Dikeos, Dimitris -- Silverman, Jeremy M -- Kendler, Kenneth S -- Mallet, Jacques -- Crowe, Raymond R -- Walters, Marilyn -- G9309834/Medical Research Council/United Kingdom -- G9810900/Medical Research Council/United Kingdom -- K24-MH64197/MH/NIMH NIH HHS/ -- KO2-01207/PHS HHS/ -- MH 41953/MH/NIMH NIH HHS/ -- MH 45390/MH/NIMH NIH HHS/ -- MH 52537/MH/NIMH NIH HHS/ -- MH61602/MH/NIMH NIH HHS/ -- R01-MH57314/MH/NIMH NIH HHS/ -- U01 MH46289/MH/NIMH NIH HHS/ -- U01 MH46318/MH/NIMH NIH HHS/ -- New York, N.Y. -- Science. 2002 Apr 26;296(5568):739-41.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA. dfl@mail.med.upenn.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11976456" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Alleles ; Australia ; Canada ; Chromosomes, Human, Pair 1/*genetics ; Europe ; Female ; Genes, Recessive ; *Genetic Linkage ; *Genetic Predisposition to Disease ; Genotype ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree ; Schizophrenia/ethnology/*genetics ; United States
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  • 3
    Publication Date: 2002-12-21
    Description: The enzyme alpha1,3-galactosyltransferase (alpha1,3GT or GGTA1) synthesizes alpha1,3-galactose (alpha1,3Gal) epitopes (Galalpha1,3Galbeta1,4GlcNAc-R), which are the major xenoantigens causing hyperacute rejection in pig-to-human xenotransplantation. Complete removal of alpha1,3Gal from pig organs is the critical step toward the success of xenotransplantation. We reported earlier the targeted disruption of one allele of the alpha1,3GT gene in cloned pigs. A selection procedure based on a bacterial toxin was used to select for cells in which the second allele of the gene was knocked out. Sequencing analysis demonstrated that knockout of the second allele of the alpha1,3GT gene was caused by a T-to-G single point mutation at the second base of exon 9, which resulted in inactivation of the alpha1,3GT protein. Four healthy alpha1,3GT double-knockout female piglets were produced by three consecutive rounds of cloning. The piglets carrying a point mutation in the alpha1,3GT gene hold significant value, as they would allow production of alpha1,3Gal-deficient pigs free of antibiotic-resistance genes and thus have the potential to make a safer product for human use.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154759/" 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/PMC3154759/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Phelps, Carol J -- Koike, Chihiro -- Vaught, Todd D -- Boone, Jeremy -- Wells, Kevin D -- Chen, Shu-Hung -- Ball, Suyapa -- Specht, Susan M -- Polejaeva, Irina A -- Monahan, Jeff A -- Jobst, Pete M -- Sharma, Sugandha B -- Lamborn, Ashley E -- Garst, Amy S -- Moore, Marilyn -- Demetris, Anthony J -- Rudert, William A -- Bottino, Rita -- Bertera, Suzanne -- Trucco, Massimo -- Starzl, Thomas E -- Dai, Yifan -- Ayares, David L -- DK29961/DK/NIDDK NIH HHS/ -- R01 AM007772/AM/NIADDK NIH HHS/ -- R01 DK029961-19/DK/NIDDK NIH HHS/ -- New York, N.Y. -- Science. 2003 Jan 17;299(5605):411-4. Epub 2002 Dec 19.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉PPL Therapeutics Inc., 1700 Kraft Drive, Blacksburg, VA 24060, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12493821" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Bacterial Toxins/pharmacology ; Cell Line ; Cloning, Molecular ; Cloning, Organism ; DNA, Complementary ; Embryo Transfer ; Enterotoxins/pharmacology ; Female ; Fibroblasts ; Galactosyltransferases/*deficiency/*genetics ; *Gene Targeting ; Genetic Vectors ; HeLa Cells ; Humans ; Immunoglobulin M/blood ; Islets of Langerhans Transplantation ; Mice ; Mice, Knockout ; *Point Mutation ; Pregnancy ; Swine/*genetics ; Transfection ; Transplantation, Heterologous ; Trisaccharides/*analysis/biosynthesis/immunology
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  • 4
    Publication Date: 2002-01-05
    Description: The presence of galactose alpha-1,3-galactose residues on the surface of pig cells is a major obstacle to successful xenotransplantation. Here, we report the production of four live pigs in which one allele of the alpha-1,3-galactosyltransferase locus has been knocked out. These pigs were produced by nuclear transfer technology; clonal fetal fibroblast cell lines were used as nuclear donors for embryos reconstructed with enucleated pig oocytes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lai, Liangxue -- Kolber-Simonds, Donna -- Park, Kwang-Wook -- Cheong, Hee-Tae -- Greenstein, Julia L -- Im, Gi-Sun -- Samuel, Melissa -- Bonk, Aaron -- Rieke, August -- Day, Billy N -- Murphy, Clifton N -- Carter, David B -- Hawley, Robert J -- Prather, Randall S -- R44 RR15198/RR/NCRR NIH HHS/ -- T32 RR07004/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2002 Feb 8;295(5557):1089-92. Epub 2002 Jan 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Animal Science, University of Missouri, Columbia, MO 65211, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11778012" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; *Animals, Genetically Modified ; Cell Line ; *Cloning, Organism ; Embryo Transfer ; Female ; Fetus ; Fibroblasts ; Galactosyltransferases/*genetics ; *Gene Targeting ; Genetic Vectors ; Male ; Mutagenesis, Insertional ; Nuclear Transfer Techniques ; Pregnancy ; Recombination, Genetic ; Swine ; Swine, Miniature/embryology/*genetics ; Transfection
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  • 5
    Publication Date: 2002-07-20
    Description: A functional polymorphism in the promoter region of the human serotonin transporter gene (SLC6A4) has been associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent. Serotonin [5- hydroxytryptamine, (5-HT)] function influences normal fear as well as pathological anxiety, behaviors critically dependent on the amygdala in animal models and in clinical studies. We now report that individuals with one or two copies of the short allele of the serotonin transporter (5-HTT) promoter polymorphism, which has been associated with reduced 5-HTT expression and function and increased fear and anxiety-related behaviors, exhibit greater amygdala neuronal activity, as assessed by BOLD functional magnetic resonance imaging, in response to fearful stimuli compared with individuals homozygous for the long allele. These results demonstrate genetically driven variation in the response of brain regions underlying human emotional behavior and suggest that differential excitability of the amygdala to emotional stimuli may contribute to the increased fear and anxiety typically associated with the short SLC6A4 allele.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hariri, Ahmad R -- Mattay, Venkata S -- Tessitore, Alessandro -- Kolachana, Bhaskar -- Fera, Francesco -- Goldman, David -- Egan, Michael F -- Weinberger, Daniel R -- New York, N.Y. -- Science. 2002 Jul 19;297(5580):400-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12130784" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Alleles ; Amygdala/*physiology ; Carrier Proteins/*genetics/physiology ; Cohort Studies ; Facial Expression ; *Fear ; Female ; Functional Laterality ; *Genetic Variation ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Membrane Glycoproteins/*genetics/physiology ; *Membrane Transport Proteins ; *Nerve Tissue Proteins ; Personality ; Polymorphism, Genetic ; *Promoter Regions, Genetic ; Serotonin/*metabolism ; Serotonin Plasma Membrane Transport Proteins ; Sex Characteristics
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  • 6
    Publication Date: 2002-07-27
    Description: Bphs controls Bordetella pertussis toxin (PTX)-induced vasoactive amine sensitization elicited by histamine (VAASH) and has an established role in autoimmunity. We report that congenic mapping links Bphs to the histamine H1 receptor gene (Hrh1/H1R) and that H1R differs at three amino acid residues in VAASH-susceptible and -resistant mice. Hrh1-/- mice are protected from VAASH, which can be restored by genetic complementation with a susceptible Bphs/Hrh1 allele, and experimental allergic encephalomyelitis and autoimmune orchitis due to immune deviation. Thus, natural alleles of Hrh1 control both the autoimmune T cell and vascular responses regulated by histamine after PTX sensitization.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Ma, Runlin Z -- Gao, Jianfeng -- Meeker, Nathan D -- Fillmore, Parley D -- Tung, Kenneth S K -- Watanabe, Takeshi -- Zachary, James F -- Offner, Halina -- Blankenhorn, Elizabeth P -- Teuscher, Cory -- AI41236/AI/NIAID NIH HHS/ -- AI41747/AI/NIAID NIH HHS/ -- AI42376/AI/NIAID NIH HHS/ -- AI4515/AI/NIAID NIH HHS/ -- AR45222/AR/NIAMS NIH HHS/ -- NS23444/NS/NINDS NIH HHS/ -- NS36526/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2002 Jul 26;297(5581):620-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory Animal Center, Institute of Genetics, Chinese Academy of Sciences, Beijing, China 100101.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12142541" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Amino Acid Sequence ; Animals ; Autoimmune Diseases/etiology/*genetics/immunology ; Chromosome Mapping ; Cloning, Molecular ; Cytokines/biosynthesis ; Disease Susceptibility ; Encephalomyelitis, Autoimmune, Experimental/etiology/genetics/immunology ; Genetic Complementation Test ; Genetic Predisposition to Disease ; Histamine/pharmacology ; Mice ; Mice, Inbred C57BL ; Mice, Inbred CBA ; Mice, Inbred Strains ; Molecular Sequence Data ; Pertussis Toxin ; Polymorphism, Single Nucleotide ; Receptors, Histamine H1/chemistry/*genetics ; Second Messenger Systems ; T-Lymphocytes/immunology ; Virulence Factors, Bordetella/toxicity
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  • 7
    Publication Date: 2002-10-05
    Description: Successful propagation of the malaria parasite Plasmodium falciparum within a susceptible mosquito vector is a prerequisite for the transmission of malaria. A field-based genetic analysis of the major human malaria vector, Anopheles gambiae, has revealed natural factors that reduce the transmission of P. falciparum. Differences in P. falciparum oocyst numbers between mosquito isofemale families fed on the same infected blood indicated a large genetic component affecting resistance to the parasite, and genome-wide scanning in pedigrees of wild mosquitoes detected segregating resistance alleles. The apparently high natural frequency of resistance alleles suggests that malaria parasites (or a similar pathogen) exert a significant selective pressure on vector populations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Niare, Oumou -- Markianos, Kyriacos -- Volz, Jennifer -- Oduol, Frederick -- Toure, Abdoulaye -- Bagayoko, Magaran -- Sangare, Djibril -- Traore, Sekou F -- Wang, Rui -- Blass, Claudia -- Dolo, Guimogo -- Bouare, Madama -- Kafatos, Fotis C -- Kruglyak, Leonid -- Toure, Yeya T -- Vernick, Kenneth D -- New York, N.Y. -- Science. 2002 Oct 4;298(5591):213-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medical and Molecular Parasitology, New York University School of Medicine, 341 East 25th Street, New York, NY 10010, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12364806" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Anopheles/*genetics/immunology/*parasitology/physiology ; Chromosome Mapping ; Female ; *Genes, Insect ; Genetic Linkage ; Genetic Markers ; Genome ; Genotype ; Host-Parasite Interactions ; Humans ; Insect Vectors/genetics/immunology/*parasitology/physiology ; Karyotyping ; Malaria, Falciparum/transmission ; Male ; Mali ; Oviposition ; Phenotype ; Plasmodium falciparum/pathogenicity/*physiology ; Virulence
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  • 8
    Publication Date: 2002-10-05
    Description: Plasmodium falciparum chloroquine resistance is a major cause of worldwide increases in malaria mortality and morbidity. Recent laboratory and clinical studies have associated chloroquine resistance with point mutations in the gene pfcrt. However, direct proof of a causal relationship has remained elusive and most models have posited a multigenic basis of resistance. Here, we provide conclusive evidence that mutant haplotypes of the pfcrt gene product of Asian, African, or South American origin confer chloroquine resistance with characteristic verapamil reversibility and reduced chloroquine accumulation. pfcrt mutations increased susceptibility to artemisinin and quinine and minimally affected amodiaquine activity; hence, these antimalarials warrant further investigation as agents to control chloroquine-resistant falciparum malaria.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954758/" 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/PMC2954758/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sidhu, Amar Bir Singh -- Verdier-Pinard, Dominik -- Fidock, David A -- R01 AI050234/AI/NIAID NIH HHS/ -- R01 AI050234-03/AI/NIAID NIH HHS/ -- R01 AI50234/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2002 Oct 4;298(5591):210-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12364805" target="_blank"〉PubMed〈/a〉
    Keywords: *ATP-Binding Cassette Transporters ; Alleles ; Amodiaquine/pharmacology ; Animals ; Antimalarials/metabolism/*pharmacology ; *Artemisinins ; Chloroquine/metabolism/*pharmacology ; Cloning, Molecular ; Drug Resistance/*genetics ; Genes, Protozoan ; Haplotypes ; Mefloquine/pharmacology ; Membrane Proteins/*genetics/physiology ; Membrane Transport Proteins ; Parasitic Sensitivity Tests ; Phenotype ; Plasmodium falciparum/*drug effects/genetics/metabolism ; *Point Mutation ; Protozoan Proteins/genetics/physiology ; Quinine/pharmacology ; Sesquiterpenes/pharmacology ; Transfection ; Verapamil/pharmacology
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  • 9
    Publication Date: 2002-08-10
    Description: Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bailey, Jeffrey A -- Gu, Zhiping -- Clark, Royden A -- Reinert, Knut -- Samonte, Rhea V -- Schwartz, Stuart -- Adams, Mark D -- Myers, Eugene W -- Li, Peter W -- Eichler, Evan E -- CA094816/CA/NCI NIH HHS/ -- GM58815/GM/NIGMS NIH HHS/ -- HG002318/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2002 Aug 9;297(5583):1003-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12169732" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Base Sequence ; Biological Evolution ; Chromosomes, Human/genetics ; Computational Biology ; Databases, Nucleic Acid ; Exons ; Expressed Sequence Tags ; *Gene Duplication ; Gene Rearrangement ; *Genes, Duplicate ; Genetic Diseases, Inborn/genetics ; *Genome, Human ; Humans ; Models, Genetic ; Polymorphism, Single Nucleotide ; Proteome ; Recombination, Genetic ; Sequence Alignment
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  • 10
    Publication Date: 2002-12-10
    Description: The formation and patterning of mesoderm during mammalian gastrulation require the activity of Nodal, a secreted mesoderm-inducing factor of the transforming growth factor-beta (TGF-beta) family. Here we show that the transcriptional corepressor DRAP1 has a very specific role in regulation of Nodal activity during mouse embryogenesis. We find that loss of Drap1 leads to severe gastrulation defects that are consistent with increased expression of Nodal and can be partially suppressed by Nodal heterozygosity. Biochemical studies indicate that DRAP1 interacts with and inhibits DNA binding by the winged-helix transcription factor FoxH1 (FAST), a critical component of a positive feedback loop for Nodal activity. We propose that DRAP1 limits the spread of a morphogenetic signal by down-modulating the response to the Nodal autoregulatory loop.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Iratni, Rabah -- Yan, Yu-Ting -- Chen, Canhe -- Ding, Jixiang -- Zhang, Yi -- Price, Sandy M -- Reinberg, Danny -- Shen, Michael M -- New York, N.Y. -- Science. 2002 Dec 6;298(5600):1996-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute and Department of Biochemistry, Division of Nucleic Acids Enzymology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12471260" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Cell Line ; Crosses, Genetic ; DNA/metabolism ; DNA-Binding Proteins/metabolism ; *Embryonic and Fetal Development ; Female ; Forkhead Transcription Factors ; Gastrula/*physiology ; Gene Expression Regulation, Developmental ; Gene Targeting ; Heterozygote ; In Situ Hybridization ; Left-Right Determination Factors ; Male ; Mesoderm/cytology/physiology ; Mice ; Morphogenesis ; Mutation ; Nodal Protein ; Phenotype ; Protein Binding ; RNA Interference ; Recombinant Fusion Proteins/metabolism ; Repressor Proteins/genetics/*metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; *Signal Transduction ; Transcription Factors/metabolism ; Transforming Growth Factor beta/genetics/*metabolism
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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