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
  • Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex.

    abstract::Two brefeldin A (BFA)-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors, 200-kDa BIG1 and 190-kDa BIG2, were copurified from bovine brain cytosol associated with >670-kDa macromolecular complexes. When observed by immunofluorescence in HeLa S3 and HepG2 cells, endogenous BIG1 and coexpressed ...

    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.97.6.2567

    authors: Yamaji R,Adamik R,Takeda K,Togawa A,Pacheco-Rodriguez G,Ferrans VJ,Moss J,Vaughan M

    更新日期:2000-03-14 00:00:00

  • POSH regulates Hippo signaling through ubiquitin-mediated expanded degradation.

    abstract::The Hippo signaling pathway is a master regulator of organ growth, tissue homeostasis, and tumorigenesis. The activity of the Hippo pathway is controlled by various upstream components, including Expanded (Ex), but the precise molecular mechanism of how Ex is regulated remains poorly understood. Here we identify Plent...

    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.1715165115

    authors: Ma X,Guo X,Richardson HE,Xu T,Xue L

    更新日期:2018-02-27 00:00:00

  • Glutamatergic reinnervation through peripheral nerve graft dictates assembly of glutamatergic synapses at rat skeletal muscle.

    abstract::Acetylcholine is the main neurotransmitter at the mammalian neuromuscular junction (NMJ) where nicotinic acetylcholine receptors mediate the signaling between nerve terminals and muscle fibers. We show that under glutamatergic transmission, rat NMJ switches from cholinergic type synapse to glutamatergic synapse. Conne...

    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.0500530102

    authors: Brunelli G,Spano P,Barlati S,Guarneri B,Barbon A,Bresciani R,Pizzi M

    更新日期:2005-06-14 00:00:00

  • Backward multiple imputation estimation of the conditional lifetime expectancy function with application to censored human longevity data.

    abstract::The conditional lifetime expectancy function (LEF) is the expected lifetime of a subject given survival past a certain time point and the values of a set of explanatory variables. This function is attractive to researchers because it summarizes the entire residual life distribution and has an easy interpretation compa...

    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.1512237112

    authors: Kong J,Klein BE,Klein R,Wahba G

    更新日期:2015-09-29 00:00:00

  • Bacterial lipids activate, synergize, and inhibit a developmental switch in choanoflagellates.

    abstract::In choanoflagellates, the closest living relatives of animals, multicellular rosette development is regulated by environmental bacteria. The simplicity of this evolutionarily relevant interaction provides an opportunity to identify the molecules and regulatory logic underpinning bacterial regulation of development. 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.1605015113

    authors: Woznica A,Cantley AM,Beemelmanns C,Freinkman E,Clardy J,King N

    更新日期:2016-07-12 00:00:00

  • Selective expansion of a subset of exhausted CD8 T cells by alphaPD-L1 blockade.

    abstract::Programmed death-1 (PD-1) regulates T cell exhaustion during chronic infections. Blocking the PD-1:PD-ligand (PD-L) pathway reinvigorates exhausted CD8 T cells. Exactly how blocking PD-1:PD-L interactions improves T cell immunity, however, remains unclear. PD-1:PD-L blockade could reprogram all exhausted T cells to be...

    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.0801497105

    authors: Blackburn SD,Shin H,Freeman GJ,Wherry EJ

    更新日期:2008-09-30 00:00:00

  • The cerebrocortical response to hyperinsulinemia is reduced in overweight humans: a magnetoencephalographic study.

    abstract::Animal studies have shown that the brain is an insulin-responsive organ and that central nervous insulin resistance induces obesity and disturbances in glucose metabolism. In humans, insulin effects in the brain are poorly characterized. We used a magnetoencephalography approach during a two-step hyperinsulinemic eugl...

    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.0604404103

    authors: Tschritter O,Preissl H,Hennige AM,Stumvoll M,Porubska K,Frost R,Marx H,Klösel B,Lutzenberger W,Birbaumer N,Häring HU,Fritsche A

    更新日期:2006-08-08 00:00:00

  • Rational approximations to linear forms of exponentials and binomials.

    abstract::Mahler proved the following quantitative result supplementing the Lindemann-Weierstrass theorem: Sigma(i=0) (n)C(i)e(ri) > H(-n-epsilon) for any distinct rational numbers r(0),r(1),..., r(n) and rational integers C(0),C(1),...,C(n) with H = max(0

    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.80.10.3138

    authors: Chudnovsky GV

    更新日期:1983-05-01 00:00:00

  • The contribution of subunits of thyroid stimulating hormone to the binding and biological activity of thyrotropin.

    abstract::The binding of bovine TSH (thyroid stimulating hormone), LH (luteinizing hormone), and their subunits to the TSH receptor of beef thyroid membranes was compared to stimulation by these agents of adenylate cyclase [ATP pyrophosphate-lyase(cyelizing), EC 4.6.1.1] in the same membranes, glucose oxidation in dog thyroid s...

    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.71.9.3460

    authors: Wolff J,Winand RJ,Kohn LD

    更新日期:1974-09-01 00:00:00

  • Expression of cellular homologues of retroviral onc genes in human hematopoietic cells.

    abstract::Total cellular poly(A)-enriched RNA from a variety of fresh human leukemic blood cells and hematopoietic cell lines was analyzed for homology with molecularly cloned DNA probes containing the onc sequence of Abelson murine leukemia virus (Ab-MuLV), Harvey murine sarcoma virus (Ha-MuSV), simian sarcoma virus (SSV), and...

    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.79.8.2490

    authors: Westin EH,Wong-Staal F,Gelmann EP,Dalla-Favera R,Papas TS,Lautenberger JA,Eva A,Reddy EP,Tronick SR,Aaronson SA,Gallo RC

    更新日期:1982-04-01 00:00:00

  • Calcium-dependent oligomerization of CAR proteins at cell membrane modulates ABA signaling.

    abstract::Regulation of ion transport in plants is essential for cell function. Abiotic stress unbalances cell ion homeostasis, and plants tend to readjust it, regulating membrane transporters and channels. The plant hormone abscisic acid (ABA) and the second messenger Ca(2+) are central in such processes, as they are involved ...

    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.1512779113

    authors: Diaz M,Sanchez-Barrena MJ,Gonzalez-Rubio JM,Rodriguez L,Fernandez D,Antoni R,Yunta C,Belda-Palazon B,Gonzalez-Guzman M,Peirats-Llobet M,Menendez M,Boskovic J,Marquez JA,Rodriguez PL,Albert A

    更新日期:2016-01-19 00:00:00

  • The A+T-rich genome of Herpesvirus saimiri contains a highly conserved gene for thymidylate synthase.

    abstract::Herpesvirus saimiri (HVS) is the prototype member of a distinctive subset of lymphotropic herpesviruses (the gamma 2 subgroup) with A+T-rich coding sequences. In this paper, we show that cells productively infected with HVS contain high concentrations of a virus-specified thymidylate synthase (5,10-methylenetetrahydro...

    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.83.11.3604

    authors: Honess RW,Bodemer W,Cameron KR,Niller HH,Fleckenstein B,Randall RE

    更新日期:1986-06-01 00:00:00

  • Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase.

    abstract::Smad proteins are key intracellular signaling effectors for the transforming growth factor-beta superfamily of peptide growth factors. Following receptor-induced activation, Smads move into the nucleus to activate transcription of a select set of target genes. The activity of Smad proteins must be tightly regulated to...

    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.98.3.974

    authors: Zhang Y,Chang C,Gehling DJ,Hemmati-Brivanlou A,Derynck R

    更新日期:2001-01-30 00:00:00

  • Anion channel blockers cause apparent inhibition of exocytosis by reacting with agonist or secretory product, not with cell.

    abstract::Agents that act as anion channel blockers (ACBs) and do not permeate cells appear to inhibit exocytosis in platelets, parathyroid cells, and neutrophils. Based in large part on these observations, anion influx through plasma membrane channels has been considered a factor controlling cellular secretion, but there have ...

    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.86.15.5839

    authors: Vostal JG,Reid DM,Jones CE,Shulman NR

    更新日期:1989-08-01 00:00:00

  • Capturing native long-range contiguity by in situ library construction and optical sequencing.

    abstract::The relatively short read lengths associated with the most cost-effective DNA sequencing technologies have limited their use in de novo genome assembly, structural variation detection, and haplotype-resolved genome sequencing. Consequently, there is a strong need for methods that capture various scales of contiguity 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.1202680109

    authors: Schwartz JJ,Lee C,Hiatt JB,Adey A,Shendure J

    更新日期:2012-11-13 00:00:00

  • Recurrent axon collaterals underlie facilitating synapses between cerebellar Purkinje cells.

    abstract::Morphological studies have provided ample evidence for synaptic connections between cerebellar Purkinje cells (PCs), but the functional properties of these synapses remain elusive. We report on direct recordings of synaptically connected PCs in mice cerebellar slices. In PCs filled with a fluorescent dye to aid axon v...

    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.0707489104

    authors: Orduz D,Llano I

    更新日期:2007-11-06 00:00:00

  • Human RECQ1 helicase-driven DNA unwinding, annealing, and branch migration: insights from DNA complex structures.

    abstract::RecQ helicases are a widely conserved family of ATP-dependent motors with diverse roles in nearly every aspect of bacterial and eukaryotic genome maintenance. However, the physical mechanisms by which RecQ helicases recognize and process specific DNA replication and repair intermediates are largely unknown. Here, we s...

    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.1417594112

    authors: Pike AC,Gomathinayagam S,Swuec P,Berti M,Zhang Y,Schnecke C,Marino F,von Delft F,Renault L,Costa A,Gileadi O,Vindigni A

    更新日期:2015-04-07 00:00:00

  • Dissecting the antigenic mosaic of the Archaebacterium Methanobacterium thermoautotrophicum by monoclonal antibodies of defined molecular specificity.

    abstract::The antigenic mosaic of the Archaebacterium Methanobacterium thermoautotrophicum, strain delta H, was analyzed with a panel of six monoclonal antibodies. Five antigenic determinants were identified. One contains N-acetyl-D-glucosamine, another contains N-acetyl-D-galactosamine, and a third contains gamma-glutamylalani...

    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.80.20.6346

    authors: Conway de Macario E,Macario AJ,Magariños MC,König H,Kandler O

    更新日期:1983-10-01 00:00:00

  • Depression of cytidine 3':5'-cyclic monophosphate phosphodiesterase activity in developing tissues of guinea pigs.

    abstract::Changes in levels of the newly discovered cytidine 3':5'-cyclic monophosphate (cyclic CMP) phosphodiesterase in some representative tissues (cerebral cortex, kidney, intestine, liver, heart, and lung) of guinea pigs from various developmental stages (fetus, neonate, pup, and adult) were studied and compared with those...

    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.75.9.4422

    authors: Helfman DM,Brackett NL,Kuo JF

    更新日期:1978-09-01 00:00:00

  • Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.

    abstract::Unintended block of HERG K+ channels is a side effect of many common medications and is the most common cause of acquired long QT syndrome associated with increased risk of life-threatening arrhythmias. The molecular mechanism of high-affinity HERG block by structurally diverse compounds has been attributed to pi-stac...

    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.192367299

    authors: Chen J,Seebohm G,Sanguinetti MC

    更新日期:2002-09-17 00:00:00

  • Diel cycling and long-term persistence of viruses in the ocean's euphotic zone.

    abstract::Viruses are fundamental components of marine microbial communities that significantly influence oceanic productivity, biogeochemistry, and ecosystem processes. Despite their importance, the temporal activities and dynamics of viral assemblages in natural settings remain largely unexplored. Here we report the transcrip...

    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.1714821114

    authors: Aylward FO,Boeuf D,Mende DR,Wood-Charlson EM,Vislova A,Eppley JM,Romano AE,DeLong EF

    更新日期:2017-10-24 00:00:00

  • NF-kappaB activation and potentiation of proinflammatory responses by the Helicobacter pylori CagA protein.

    abstract::The Helicobacter pylori immunodominant protein, CagA, is associated with severe gastritis and carcinoma. Injection of CagA into gastric epithelial cells by type IV secretion leads to actin-cytoskeletal rearrangements and cell scattering. CagA has been reported to have no role in the induction of transcription factor N...

    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.0409873102

    authors: Brandt S,Kwok T,Hartig R,König W,Backert S

    更新日期:2005-06-28 00:00:00

  • Bombesin, vasopressin, and endothelin rapidly stimulate tyrosine phosphorylation in intact Swiss 3T3 cells.

    abstract::The mitogenic neuropeptides bombesin and vasopressin markedly increased tyrosine and serine phosphorylation of multiple substrates in quiescent Swiss 3T3 fibroblasts, including two major bands of Mr 90,000 and 115,000. Tyrosine phosphorylation of these proteins was increased as judged by immunoprecipitation of 32Pi-la...

    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.88.11.4577

    authors: Zachary I,Gil J,Lehmann W,Sinnett-Smith J,Rozengurt E

    更新日期:1991-06-01 00:00:00

  • (2'-5')Oligoadenylate in rat liver: modulation after partial hepatectomy.

    abstract::(2'-5')Oligoadenylate synthetase [(2'-5')A synthetase], which synthesizes a series of oligoadenylates ppp-(A2'p)n5'A [collectively referred to as (2'-5')A], has been described previously in rat liver cells, where its concentration varied with the growth status of this organ--i.e., it decreased during the early phase o...

    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.80.15.4609

    authors: Etienne-Smekens M,Vandenbussche P,Content J,Dumont JE

    更新日期:1983-08-01 00:00:00

  • Directed selection of a conformational antibody domain that prevents mature amyloid fibril formation by stabilizing Abeta protofibrils.

    abstract::The formation of amyloid fibrils is a common biochemical characteristic that occurs in Alzheimer's disease and several other amyloidoses. The unifying structural feature of amyloid fibrils is their specific type of beta-sheet conformation that differentiates these fibrils from the products of normal protein folding re...

    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.0703793104

    authors: Habicht G,Haupt C,Friedrich RP,Hortschansky P,Sachse C,Meinhardt J,Wieligmann K,Gellermann GP,Brodhun M,Götz J,Halbhuber KJ,Röcken C,Horn U,Fändrich M

    更新日期:2007-12-04 00:00:00

  • D-peptide inhibitors of the p53-MDM2 interaction for targeted molecular therapy of malignant neoplasms.

    abstract::The oncoproteins MDM2 and MDMX negatively regulate the activity and stability of the tumor suppressor protein p53, conferring tumor development and survival. Antagonists targeting the p53-binding domains of MDM2 and MDMX kill tumor cells both in vitro and in vivo by reactivating the p53 pathway, promising a class of 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.1008930107

    authors: Liu M,Li C,Pazgier M,Li C,Mao Y,Lv Y,Gu B,Wei G,Yuan W,Zhan C,Lu WY,Lu W

    更新日期:2010-08-10 00:00:00

  • Altered pharmacology and distinct coactivator usage for estrogen receptor-dependent transcription through activating protein-1.

    abstract::Estrogen signaling occurs through at least two distinct molecular pathways: (i) direct binding of liganded estrogen receptors (ERs) to estrogen-responsive DNA elements (EREs) (the "ER/ERE pathway") and (ii) indirect recruitment of liganded ERs to activating protein-1 (AP-1)-responsive DNA elements via heterodimers of ...

    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.0407113102

    authors: Cheung E,Acevedo ML,Cole PA,Kraus WL

    更新日期:2005-01-18 00:00:00

  • Electron density functions for simple molecules.

    abstract::Trial electron density functions have some conceptual and computational advantages over wave functions. The properties of some simple density functions for H(+) (2) and H(2) are examined. It appears that for a diatomic molecule a good density function would be given by rho = N(A(2) + B(2)), in which A and B are short ...

    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.77.4.1725

    authors: Pearson RG,Palke WE

    更新日期:1980-04-01 00:00:00

  • An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

    abstract::In nine patients with GM1 gangliosidosis, liver ganglioside GM1 beta-galactosidase (EC 3.2.1.23) activity ranged from less than 0.01% to 0.05% of normal. In a tenth patient's liver, much higher activity was found (0.5% of normal). In this patient the residual enzyme had the same molecular weight as beta-galactosidase ...

    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.72.1.240

    authors: Norden AG,O'Brien JS

    更新日期:1975-01-01 00:00:00

  • traG protein of the F sex factor of Escherichia coli K-12 and its role in conjugation.

    abstract::The traG protein of the F sex factor is an inner membrane protein with a molecular weight of 116,000. Mutants in traG (or in traN) are able to trigger conjugal DNA replication even though they cannot efficiently form stable mating aggregates with F(-) cells. The traG protein (and the traN protein) probably acts in the...

    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.78.12.7487

    authors: Manning PA,Morelli G,Achtman M

    更新日期:1981-12-01 00:00:00