Literature DB >> 20920667

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

Orly Agamy1, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky-Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman-Sagie, Ohad S Birk.   

Abstract

The essential micronutrient selenium is found in proteins as selenocysteine (Sec), the only genetically encoded amino acid whose biosynthesis occurs on its cognate tRNA in humans. In the final step of selenocysteine formation, the essential enzyme SepSecS catalyzes the conversion of Sep-tRNA to Sec-tRNA. We demonstrate that SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy (PCCA) in Jews of Iraqi and Moroccan ancestry. Both founder mutations, common in these two populations, disrupt the sole route to the biosynthesis of the 21st amino acid, Sec, and thus to the generation of selenoproteins in humans.
Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2010        PMID： 20920667      PMCID： PMC2948803          DOI： 10.1016/j.ajhg.2010.09.007

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  23 in total

1.  Tissue level, distribution, and total body selenium content in healthy and diseased humans in Poland.

Authors:  B A Zachara; H Pawluk; E Bloch-Boguslawska; K M Sliwka; J Korenkiewicz; Z Skok; K Ryć
Journal:  Arch Environ Health       Date:  2001 Sep-Oct

2.  Substitution of cysteine for selenocysteine in the catalytic center of type III iodothyronine deiodinase reduces catalytic efficiency and alters substrate preference.

Authors:  George G J M Kuiper; Willem Klootwijk; Theo J Visser
Journal:  Endocrinology       Date:  2003-06       Impact factor: 4.736

3.  Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

Authors:  B Ben-Zeev; C Hoffman; D Lev; N Watemberg; G Malinger; N Brand; T Lerman-Sagie
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

4.  HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Authors:  Holger Thiele; Peter Nürnberg
Journal:  Bioinformatics       Date:  2004-09-17       Impact factor: 6.937

5.  RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea.

Authors:  Jing Yuan; Sotiria Palioura; Juan Carlos Salazar; Dan Su; Patrick O'Donoghue; Michael J Hohn; Alexander Machado Cardoso; William B Whitman; Dieter Söll
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-01       Impact factor: 11.205

6.  All regions of mouse brain are dependent on selenoprotein P for maintenance of selenium.

Authors:  Akihiro Nakayama; Kristina E Hill; Lori M Austin; Amy K Motley; Raymond F Burk
Journal:  J Nutr       Date:  2007-03       Impact factor: 4.798

7.  Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration.

Authors:  Eva K Wirth; Marcus Conrad; Jochen Winterer; Christian Wozny; Bradley A Carlson; Stephan Roth; Dietmar Schmitz; Georg W Bornkamm; Vincenzo Coppola; Lino Tessarollo; Lutz Schomburg; Josef Köhrle; Dolph L Hatfield; Ulrich Schweizer
Journal:  FASEB J       Date:  2009-11-04       Impact factor: 5.191

8.  Deletion of apolipoprotein E receptor-2 in mice lowers brain selenium and causes severe neurological dysfunction and death when a low-selenium diet is fed.

Authors:  Raymond F Burk; Kristina E Hill; Gary E Olson; Edwin J Weeber; Amy K Motley; Virginia P Winfrey; Lori M Austin
Journal:  J Neurosci       Date:  2007-06-06       Impact factor: 6.167

9.  Neurological dysfunction occurs in mice with targeted deletion of the selenoprotein P gene.

Authors:  Kristina E Hill; Jiadong Zhou; Wendy J McMahan; Amy K Motley; Raymond F Burk
Journal:  J Nutr       Date:  2004-01       Impact factor: 4.798

10.  Evidence for specific selenium target tissues and new biologically important selenoproteins.

Authors:  D Behne; H Hilmert; S Scheid; H Gessner; W Elger
Journal:  Biochim Biophys Acta       Date:  1988-07-14
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  55 in total

Review 1.  Selenium, selenoproteins and the thyroid gland: interactions in health and disease.

Authors:  Lutz Schomburg
Journal:  Nat Rev Endocrinol       Date:  2011-10-18       Impact factor: 43.330

2.  Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Authors:  Miora Feinstein; Barak Markus; Iris Noyman; Hannah Shalev; Hagit Flusser; Ilan Shelef; Keren Liani-Leibson; Zamir Shorer; Idan Cohen; Shareef Khateeb; Sara Sivan; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2010-11-18       Impact factor: 11.025

3.  Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Authors:  Xiaochang Zhang; Jiqiang Ling; Giulia Barcia; Lili Jing; Jiang Wu; Brenda J Barry; Ganeshwaran H Mochida; R Sean Hill; Jill M Weimer; Quinn Stein; Annapurna Poduri; Jennifer N Partlow; Dorothée Ville; Olivier Dulac; Tim W Yu; Anh-Thu N Lam; Sarah Servattalab; Jacqueline Rodriguez; Nathalie Boddaert; Arnold Munnich; Laurence Colleaux; Leonard I Zon; Dieter Söll; Christopher A Walsh; Rima Nabbout
Journal:  Am J Hum Genet       Date:  2014-03-20       Impact factor: 11.025

Review 4.  Selenoproteins: molecular pathways and physiological roles.

Authors:  Vyacheslav M Labunskyy; Dolph L Hatfield; Vadim N Gladyshev
Journal:  Physiol Rev       Date:  2014-07       Impact factor: 37.312

Review 5.  Understanding selenoprotein function and regulation through the use of rodent models.

Authors:  Marina V Kasaikina; Dolph L Hatfield; Vadim N Gladyshev
Journal:  Biochim Biophys Acta       Date:  2012-03-13

6.  Impaired selenoprotein expression in brain triggers striatal neuronal loss leading to co-ordination defects in mice.

Authors:  Sandra Seeher; Bradley A Carlson; Angela C Miniard; Eva K Wirth; Yassin Mahdi; Dolph L Hatfield; Donna M Driscoll; Ulrich Schweizer
Journal:  Biochem J       Date:  2014-08-15       Impact factor: 3.857

Review 7.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 8.  On elongation factor eEFSec, its role and mechanism during selenium incorporation into nascent selenoproteins.

Authors:  Miljan Simonović; Anupama K Puppala
Journal:  Biochim Biophys Acta Gen Subj       Date:  2018-03-17       Impact factor: 3.770

9.  Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Authors:  Heather E Olson; McKenna Kelly; Christopher M LaCoursiere; Rebecca Pinsky; Dimira Tambunan; Catherine Shain; Sriram Ramgopal; Masanori Takeoka; Mark H Libenson; Kristina Julich; Tobias Loddenkemper; Eric D Marsh; Devorah Segal; Susan Koh; Michael S Salman; Alex R Paciorkowski; Edward Yang; Ann M Bergin; Beth Rosen Sheidley; Annapurna Poduri
Journal:  Ann Neurol       Date:  2017-02-14       Impact factor: 10.422

10.  Selenoprotein T Deficiency Leads to Neurodevelopmental Abnormalities and Hyperactive Behavior in Mice.

Authors:  Matthieu T Castex; Arnaud Arabo; Magalie Bénard; Vincent Roy; Vadim Le Joncour; Gaëtan Prévost; Jean-Jacques Bonnet; Youssef Anouar; Anthony Falluel-Morel
Journal:  Mol Neurobiol       Date:  2015-10-26       Impact factor: 5.590
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