Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.

Abstract:

:Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans. Here we report a naturally occurring null mutation of the EDNRB gene in spotting lethal (sl) rats, which exhibit aganglionic megacolon associated with white coat color. We found a 301-bp deletion spanning the exon 1-intron 1 junction of the EDNRB gene in sl rats. A restriction fragment length polymorphism caused by this deletion perfectly cosegregates with the sl phenotype. The deletion leads to production of an aberrantly spliced EDNRB mRNA that lacks the coding sequence for the first and second putative transmembrane domains of the G-protein-coupled receptor. Radioligand binding assays revealed undetectable levels of functional EDNRB in tissues from homozygous sl/sl rats. We conclude that EDNRB plays an essential role in the normal development of two neural crest-derived cell lineages, epidermal melanocytes and enteric neurons, in three mammalian species--humans, mice, and rats. The EDNRB-deficient rat may also prove valuable in defining the postnatal physiologic role of this receptor.

authors

Gariepy CE,Cass DT,Yanagisawa M

doi

10.1073/pnas.93.2.867

subject

Has Abstract

pub_date

1996-01-23 00:00:00

pages

867-72

issue

2

eissn

0027-8424

issn

1091-6490

journal_volume

93

pub_type

杂志文章
  • Cellular and humoral immune responses to adenoviral vectors containing factor IX gene: tolerization of factor IX and vector antigens allows for long-term expression.

    abstract::Recombinant adenoviruses containing the canine factor IX (FIX) cDNA were directly introduced in the hind leg muscle of mice. We show that (i) in nude mice, high expression (1-5 micrograms/ml in plasma) of FIX protein can be detected for > 300 days; (ii) in contrast, expression of FIX protein was transient (7-10 days) ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.5.1401

    authors: Dai Y,Schwarz EM,Gu D,Zhang WW,Sarvetnick N,Verma IM

    更新日期:1995-02-28 00:00:00

  • Quantifying signaling-induced reorientation of T cell receptors during immunological synapse formation.

    abstract::Productive T cell recognition of antigen-presenting cells (APCs) is normally accompanied by the formation of a cell-cell contact called the "immunological synapse." Our understanding of the steps leading up to this formation has been limited by the absence of tools for analyzing 3D surfaces and surface distributions a...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.192573999

    authors: Moss WC,Irvine DJ,Davis MM,Krummel MF

    更新日期:2002-11-12 00:00:00

  • Extensive but reversible depletion of ATP via adenylate cyclase in rat adipocytes.

    abstract::In adipocytes, adenylate cyclase is positively regulated by beta-adrenergic agents and negatively regulated by adenosine. Incubation of adipocytes with adenosine deaminase relieves the inhibition of adenylate cyclase by destroying the adenosine that the cells release into the medium. When adipocytes are incubated with...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.82.6.1614

    authors: Chung FZ,Weber HW,Appleman MM

    更新日期:1985-03-01 00:00:00

  • A male germ cell tumor-susceptibility-determining locus, pgct1, identified on murine chromosome 13.

    abstract::Inbred 129 strain mice are predisposed to developing male germ cell tumors (GCTs) of the testes. The inherent genetic defects that underlie male GCT susceptibility in the 129 mouse strain are unknown. GCT incidence is increased in 129 strain males that lack functional p53 protein, and we have used this finding to faci...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.140208197

    authors: Muller AJ,Teresky AK,Levine AJ

    更新日期:2000-07-18 00:00:00

  • Nutritional impact of elevated calcium transport activity in carrots.

    abstract::Nutrition recommendations worldwide emphasize ingestion of plant-based diets rather than diets that rely primarily on animal products. However, this plant-based diet could limit the intake of essential nutrients such as calcium. Osteoporosis is one of the world's most prevalent nutritional disorders, and inadequate di...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章,随机对照试验

    doi:10.1073/pnas.0709005105

    authors: Morris J,Hawthorne KM,Hotze T,Abrams SA,Hirschi KD

    更新日期:2008-02-05 00:00:00

  • Infection of rabbit T-cell and macrophage lines with human immunodeficiency virus.

    abstract::We report the successful infection of two rabbit T-cell lines and one rabbit macrophage line with human immunodeficiency virus 1 (HIV-1). One T-cell line was a herpesvirus ateles transformant, the other T-cell line was a human T-cell leukemia virus I transformant, and the macrophage line was a simian virus 40 transfor...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.85.12.4455

    authors: Kulaga H,Folks TM,Rutledge R,Kindt TJ

    更新日期:1988-06-01 00:00:00

  • Dissection of the enhancer activity of beta-globin 5' DNase I-hypersensitive site 2 in transgenic mice.

    abstract::The beta-globin locus control region (LCR) consists of four erythroid-specific DNase I-hypersensitive sites, which are necessary for high-level expression of the beta-like globin genes in erythroid tissues. One of these sites, designated 5'HS-2, functions as an erythroid-specific enhancer element in transfection and t...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.89.9.3899

    authors: Liu D,Chang JC,Moi P,Liu W,Kan YW,Curtin PT

    更新日期:1992-05-01 00:00:00

  • Antioxidants prevent health-promoting effects of physical exercise in humans.

    abstract::Exercise promotes longevity and ameliorates type 2 diabetes mellitus and insulin resistance. However, exercise also increases mitochondrial formation of presumably harmful reactive oxygen species (ROS). Antioxidants are widely used as supplements but whether they affect the health-promoting effects of exercise is unkn...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0903485106

    authors: Ristow M,Zarse K,Oberbach A,Klöting N,Birringer M,Kiehntopf M,Stumvoll M,Kahn CR,Blüher M

    更新日期:2009-05-26 00:00:00

  • Ribosomal proteins. 8. Molecular weights of isolated ribosomal proteins of Escherichia coli.

    abstract::Molecular weights of the isolated proteins from the 30S and 50S ribosomal subunits of Escherichia coli were determined by two independent methods: polyacrylamide gel electrophoresis with sodium dodecylsulphate and equilibrium sedimentation. The values for the molecular weights determined by gel electrophoresis range f...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.67.4.1909

    authors: Dzionara M,Kaltschmidt E,Wittmann HG

    更新日期:1970-12-01 00:00:00

  • Transposon tagging of tobacco mosaic virus resistance gene N: its possible role in the TMV-N-mediated signal transduction pathway.

    abstract::Plants can recognize and resist invading pathogens by signaling the induction of rapid defense responses. Often these responses are mediated by single dominant resistance genes (R genes). The products of R genes have been postulated to recognize the pathogen and trigger rapid host defense responses. Here we describe i...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.10.4175

    authors: Dinesh-Kumar SP,Whitham S,Choi D,Hehl R,Corr C,Baker B

    更新日期:1995-05-09 00:00:00

  • HDAC6 is a target for protection and regeneration following injury in the nervous system.

    abstract::Central nervous system (CNS) trauma can result in tissue disruption, neuronal and axonal degeneration, and neurological dysfunction. The limited spontaneous CNS repair in adulthood and aging is often insufficient to overcome disability. Several investigations have demonstrated that targeting HDAC activity can protect ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0907935106

    authors: Rivieccio MA,Brochier C,Willis DE,Walker BA,D'Annibale MA,McLaughlin K,Siddiq A,Kozikowski AP,Jaffrey SR,Twiss JL,Ratan RR,Langley B

    更新日期:2009-11-17 00:00:00

  • Configuration Interaction in the Calculation of Oscillatory and Rotatory Intensities of Nonplanar pi-Electronic Systems.

    abstract::The interaction of configurations, including all possible singly excited configurations, is incorporated into the calculation of oscillatory and rotatory intensities of simple nonplanar pi-electronic systems such as skewed butadiene and acrolein. The results are discussed in terms of the reliability of the (self-consi...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.67.4.1727

    authors: Cheong KK,Oshita A,Caldwell DJ,Eyring H

    更新日期:1970-12-01 00:00:00

  • Roles of SecG in ATP- and SecA-dependent protein translocation.

    abstract::SecA, the translocation ATPase in Escherichia coli, undergoes cycles of conformational changes (insertion/deinsertion) in response to ATP and a preprotein. The membrane-embedded portion of protein translocase, SecYEG, has crucial roles in the SecA-driven preprotein translocation reaction. We previously identified a se...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.95.23.13567

    authors: Matsumoto G,Mori H,Ito K

    更新日期:1998-11-10 00:00:00

  • Habituation of tobacco pith cells for factors promoting cell division is heritable and potentially reversible.

    abstract::A type of heritable cellular change, known as habituation, occurs spontaneously in plant tissue and cell culture. This phenomenon is characterized by a newly acquired capacity of plant cells to produce growth regulatory substances. Using cloned lines of tobacco pith parenchyma cells, we demonstrated that a newly acqui...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.70.9.2660

    authors: Binns A,Meins F

    更新日期:1973-09-01 00:00:00

  • Generalizing Fisher's "reproductive value": linear differential and difference equations of "dilute" biological systems.

    abstract::R. A. Fisher's 1930 "reproductive value" is defined as the contribution made by a population's initial age elements to its asymptotically dominating exponential growth mode. For the Leslie discrete-time model, it is the characteristic row vector of the Leslie matrix, and for the integral-equation model of Lotka the si...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.74.11.5189

    authors: Samuelson PA

    更新日期:1977-11-01 00:00:00

  • Assembly of complex cell microenvironments using geometrically docked hydrogel shapes.

    abstract::Cellular communities in living tissues act in concert to establish intricate microenvironments, with complexity difficult to recapitulate in vitro. We report a method for docking numerous cellularized hydrogel shapes (100-1,000 µm in size) into hydrogel templates to construct 3D cellular microenvironments. Each shape ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 临床试验,杂志文章

    doi:10.1073/pnas.1300569110

    authors: Eng G,Lee BW,Parsa H,Chin CD,Schneider J,Linkov G,Sia SK,Vunjak-Novakovic G

    更新日期:2013-03-19 00:00:00

  • Chromosome disentanglement driven via optimal compaction of loop-extruded brush structures.

    abstract::Eukaryote cell division features a chromosome compaction-decompaction cycle that is synchronized with their physical and topological segregation. It has been proposed that lengthwise compaction of chromatin into mitotic chromosomes via loop extrusion underlies the compaction-segregation/resolution process. We analyze ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1906355116

    authors: Brahmachari S,Marko JF

    更新日期:2019-12-10 00:00:00

  • Genetic mapping of the inversion loop in bacteriophage Mu DNA.

    abstract::An inversion loop seen in heteroduplex mapping of the DNA of mature Mu phage induced from a lysogen is observed also in defective lambda phage carrying one end of Mu. 14% of the DNA of Mu, including this region, designated the G loop, is shown to be to the right of all known genes in the prophage map. The inhomogeneou...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.70.7.2153

    authors: Daniell E,Boram W,Abelson J

    更新日期:1973-07-01 00:00:00

  • Alpha-lipoic acid attenuates LPS-induced inflammatory responses by activating the phosphoinositide 3-kinase/Akt signaling pathway.

    abstract::The phosphoinositide 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway was recently shown to negatively regulate LPS-induced acute inflammatory responses. We previously observed that the metabolic thiol antioxidant alpha-lipoic acid (LA) inhibits LPS-induced expression of cellular adhesion molecules and adheren...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0700305104

    authors: Zhang WJ,Wei H,Hagen T,Frei B

    更新日期:2007-03-06 00:00:00

  • PKC eta regulates occludin phosphorylation and epithelial tight junction integrity.

    abstract::PKC eta is expressed predominantly in the epithelial tissues; however, its role in the regulation of epithelial tight junctions (TJs) is unknown. We present evidence that PKC eta phosphorylates occludin on threonine residues (T403 and T404) and plays a crucial role in the assembly and/or maintenance of TJs in Caco-2 a...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0802741106

    authors: Suzuki T,Elias BC,Seth A,Shen L,Turner JR,Giorgianni F,Desiderio D,Guntaka R,Rao R

    更新日期:2009-01-06 00:00:00

  • Phosphorylation of actin Tyr-53 inhibits filament nucleation and elongation and destabilizes filaments.

    abstract::Dictyostelium actin was shown to become phosphorylated on Tyr-53 late in the developmental cycle and when cells in the amoeboid stage are subjected to stress but the phosphorylated actin had not been purified and characterized. We have separated phosphorylated and unphosphorylated actin and shown that Tyr-53 phosphory...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0606321103

    authors: Liu X,Shu S,Hong MS,Levine RL,Korn ED

    更新日期:2006-09-12 00:00:00

  • Energetics of neuronal signaling and fMRI activity.

    abstract::Energetics of resting and evoked fMRI signals were related to localized ensemble firing rates (nu) measured by electrophysiology in rats. Two different unstimulated, or baseline, states were established by anesthesia. Halothane and alpha-chloralose established baseline states of high and low energy, respectively, in w...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0709515104

    authors: Maandag NJ,Coman D,Sanganahalli BG,Herman P,Smith AJ,Blumenfeld H,Shulman RG,Hyder F

    更新日期:2007-12-18 00:00:00

  • Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain.

    abstract::Neurogenesis has recently been observed in the adult human brain, suggesting the possibility of endogenous neural repair. However, the augmentation of neurogenesis in the adult human brain in response to neuronal cell loss has not been demonstrated. This study was undertaken to investigate whether neurogenesis occurs ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1532244100

    authors: Curtis MA,Penney EB,Pearson AG,van Roon-Mom WM,Butterworth NJ,Dragunow M,Connor B,Faull RL

    更新日期:2003-07-22 00:00:00

  • A dynamically assembled cell wall synthesis machinery buffers cell growth.

    abstract::Assembly of protein complexes is a key mechanism for achieving spatial and temporal coordination in processes involving many enzymes. Growth of rod-shaped bacteria is a well-studied example requiring such coordination; expansion of the cell wall is thought to involve coordination of the activity of synthetic enzymes w...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1313826111

    authors: Lee TK,Tropini C,Hsin J,Desmarais SM,Ursell TS,Gong E,Gitai Z,Monds RD,Huang KC

    更新日期:2014-03-25 00:00:00

  • Identification of cation-binding sites on actin that drive polymerization and modulate bending stiffness.

    abstract::The assembly of actin monomers into filaments and networks plays vital roles throughout eukaryotic biology, including intracellular transport, cell motility, cell division, determining cellular shape, and providing cells with mechanical strength. The regulation of actin assembly and modulation of filament mechanical p...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1211078109

    authors: Kang H,Bradley MJ,McCullough BR,Pierre A,Grintsevich EE,Reisler E,De La Cruz EM

    更新日期:2012-10-16 00:00:00

  • Guanylyl cyclase C is a selective marker for metastatic colorectal tumors in human extraintestinal tissues.

    abstract::Guanylyl cyclase C (GCC) has been detected only in intestinal mucosa and colon carcinoma cells of placental mammals. However, this receptor has been identified in several tissues in marsupials, and its expression has been suggested in tissues other than intestine in placental mammals. Selective expression of GCC by co...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.93.25.14827

    authors: Carrithers SL,Barber MT,Biswas S,Parkinson SJ,Park PK,Goldstein SD,Waldman SA

    更新日期:1996-12-10 00:00:00

  • Tumor marker-responsive behavior of gels prepared by biomolecular imprinting.

    abstract::We report dynamic glycoprotein recognition of gels prepared by biomolecular imprinting using lectin and antibody molecules as ligands for tumor-specific marker glycoproteins. The glycoprotein-imprinted gels prepared with minute amounts of cross-linkers could dynamically recognize tumor-specific marker glycoproteins by...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0506786103

    authors: Miyata T,Jige M,Nakaminami T,Uragami T

    更新日期:2006-01-31 00:00:00

  • Nuclear carbonic anhydrase 6B associates with PRMT5 to epigenetically promote IL-12 expression in innate response.

    abstract::Interleukin-12 (IL-12) is critical for induction of protective immunity against intracellular bacterial infection. However, the mechanisms for efficient induction of IL-12 in innate response remain poorly understood. Here we report that the B type of carbonic anhydrase 6 (Car6-b, which encoded CA-VI B) is essential fo...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1700917114

    authors: Xu J,Xu X,Wang B,Ma Y,Zhang L,Xu H,Hu Y,Wu J,Cao X

    更新日期:2017-08-08 00:00:00

  • Helper activity of human leukemic tissue extracts for leukemia virus expression in mice.

    abstract::Extracts of cultured human leukemic tissues increased the spleen focus-forming activity of Friend leukemia virus preparations in BALB/c and other partially resistant mice. Such mice carry the Fv-1(b) gene, which inhibits the expression of helper virus indigenous to the Friend virus complex, and allows co-infecting leu...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.68.10.2391

    authors: Steeves RA,Fjelde A,Mirand EA

    更新日期:1971-10-01 00:00:00

  • Morphine peripheral analgesia depends on activation of the PI3Kgamma/AKT/nNOS/NO/KATP signaling pathway.

    abstract::Morphine is one of the most prescribed and effective drugs used for the treatment of acute and chronic pain conditions. In addition to its central effects, morphine can also produce peripheral analgesia. However, the mechanisms underlying this peripheral action of morphine have not yet been fully elucidated. Here, we ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0914733107

    authors: Cunha TM,Roman-Campos D,Lotufo CM,Duarte HL,Souza GR,Verri WA Jr,Funez MI,Dias QM,Schivo IR,Domingues AC,Sachs D,Chiavegatto S,Teixeira MM,Hothersall JS,Cruz JS,Cunha FQ,Ferreira SH

    更新日期:2010-03-02 00:00:00