Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

American Journal of Human Genetics

Volumn 87, Issue 4, 2010, Pages 538-544

  Agamy, Orly ^a   Ben Zeev, Bruria ^b   Lev, Dorit ^c   Marcus, Barak ^a   Fine, Dina ^a   Su, Dan ^d   Narkis, Ginat ^a,e   Ofir, Rivka ^a   Hoffmann, Chen ^b   Leshinsky Silver, Esther ^c   Flusser, Hagit ^a   Sivan, Sara ^a   Söll, Dieter ^d   Lerman Sagie, Tally ^c   Birk, Ohad S ^a,e  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^d YALE UNIVERSITY   (United States)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

SELENOCYSTEINE; SELENOPROTEIN; AMINO ACID TRANSFER RNA LIGASE; O-PHOSPHOSERYL-TRNA:SELENOCYSTEINYL-TRNA SYNTHASE, HUMAN;

AMINO ACID SYNTHESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOSYNTHESIS; BRAIN ATROPHY; CONTROLLED STUDY; GENE DISRUPTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRAQ; JEW; MAJOR CLINICAL STUDY; MOROCCO; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGRESSIVE CEREBELLOCEREBRAL ATROPHY; ATROPHY; BRAIN CORTEX; CEREBELLUM; CHROMOSOME MAP; DEMYELINATING DISEASE; DNA SEQUENCE; ETHNOLOGY; GENETICS; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE; SEQUENCE ALIGNMENT;

AMINO ACYL-TRNA SYNTHETASES; ATROPHY; BASE SEQUENCE; CEREBELLUM; CEREBRAL CORTEX; CHROMOSOME MAPPING; GENES, RECESSIVE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; IRAQ; JEWS; MOLECULAR SEQUENCE DATA; MOROCCO; MUTATION; PEDIGREE; SELENOCYSTEINE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 77957731889     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.09.007     Document Type: Article

References (23)

1. B. Ben-Zeev, C. Hoffman, D. Lev, N. Watemberg, G. Malinger, N. Brand, and T. Lerman-Sagie Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia J. Med. Genet. 40 2003 e96
2. H. Thiele, and P. Nürnberg HaploPainter: a tool for drawing pedigrees with complex haplotypes Bioinformatics 21 2005 1730 1732
3. A. Gefen, R. Cohen, and O.S. Birk Syndrome to gene (S2G): In-silico identification of candidate genes for human diseases Hum. Mutat. 31 2010 229 236
4. B.S. Budde, Y. Namavar, P.G. Barth, B.T. Poll-The, G. Nürnberg, C. Becker, F. van Ruissen, M.A. Weterman, K. Fluiter, and E.T. te Beek tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nat. Genet. 40 2008 1113 1118
5. J. Yuan, S. Palioura, J.C. Salazar, D. Su, P. O'Donoghue, M.J. Hohn, A.M. Cardoso, W.B. Whitman, and D. Söll RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea Proc. Natl. Acad. Sci. USA 103 2006 18923 18927
6. S. Palioura, R.L. Sherrer, T.A. Steitz, D. Söll, and M. Simonovic The human SepSecS-tRNASec complex reveals the mechanism of selenocysteine formation Science 325 2009 321 325
7. Y. Araiso, S. Palioura, R. Ishitani, R.L. Sherrer, P. O'Donoghue, J. Yuan, H. Oshikane, N. Domae, J. Defranco, D. Söll, and O. Nureki Structural insights into RNA-dependent eukaryal and archaeal selenocysteine formation Nucleic Acids Res. 36 2008 1187 1199
8. E. Aeby, S. Palioura, M. Pusnik, J. Marazzi, A. Lieberman, E. Ullu, D. Söll, and A. Schneider The canonical pathway for selenocysteine insertion is dispensable in Trypanosomes Proc. Natl. Acad. Sci. USA 106 2009 5088 5092
9. J. Lu, and A. Holmgren Selenoproteins J. Biol. Chem. 284 2009 723 727
10. C. Allmang, L. Wurth, and A. Krol The selenium to selenoprotein pathway in eukaryotes: more molecular partners than anticipated Biochim. Biophys. Acta 1790 2009 1415 1423
11. F.P. Bellinger, A.V. Raman, M.A. Reeves, and M.J. Berry Regulation and function of selenoproteins in human disease Biochem. J. 422 2009 11 22
12. A.V. Lobanov, D.L. Hatfield, and V.N. Gladyshev Eukaryotic selenoproteins and selenoproteomes Biochim. Biophys. Acta 1790 2009 1424 1428
13. G.G. Kuiper, W. Klootwijk, and T.J. Visser Substitution of cysteine for selenocysteine in the catalytic center of type III iodothyronine deiodinase reduces catalytic efficiency and alters substrate preference Endocrinology 144 2003 2505 2513
14. O.M. Ganichkin, X.M. Xu, B.A. Carlson, H. Mix, D.L. Hatfield, V.N. Gladyshev, and M.C. Wahl Structure and catalytic mechanism of eukaryotic selenocysteine synthase J. Biol. Chem. 283 2008 5849 5865
15. E.K. Wirth, M. Conrad, J. Winterer, C. Wozny, B.A. Carlson, S. Roth, D. Schmitz, G.W. Bornkamm, V. Coppola, and L. Tessarollo Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration FASEB J. 24 2010 844 852
16. B.A. Zachara, H. Pawluk, E. Bloch-Boguslawska, K.M. Sliwka, J. Korenkiewicz, Z. Skok, and K. Ryć Tissue level, distribution, and total body selenium content in healthy and diseased humans in Poland Arch. Environ. Health 56 2001 461 466
17. A. Nakayama, K.E. Hill, L.M. Austin, A.K. Motley, and R.F. Burk All regions of mouse brain are dependent on selenoprotein P for maintenance of selenium J. Nutr. 137 2007 690 693
18. D. Behne, H. Hilmert, S. Scheid, H. Gessner, and W. Elger Evidence for specific selenium target tissues and new biologically important selenoproteins Biochim. Biophys. Acta 966 1988 12 21
19. K.E. Hill, J. Zhou, W.J. McMahan, A.K. Motley, J.F. Atkins, R.F. Gesteland, and R.F. Burk Deletion of selenoprotein P alters distribution of selenium in the mouse J. Biol. Chem. 278 2003 13640 13646
20. R.F. Burk, K.E. Hill, G.E. Olson, E.J. Weeber, A.K. Motley, V.P. Winfrey, and L.M. Austin 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 J. Neurosci. 27 2007 6207 6211
21. K.E. Hill, J. Zhou, W.J. McMahan, A.K. Motley, and R.F. Burk Neurological dysfunction occurs in mice with targeted deletion of the selenoprotein P gene J. Nutr. 134 2004 157 161
22. W.M. Valentine, T.W. Abel, K.E. Hill, L.M. Austin, and R.F. Burk Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2 J. Neuropathol. Exp. Neurol. 67 2008 68 77
23. Y. Zhang, Y. Zhou, U. Schweizer, N.E. Savaskan, D. Hua, J. Kipnis, D.L. Hatfield, and V.N. Gladyshev Comparative analysis of selenocysteine machinery and selenoproteome gene expression in mouse brain identifies neurons as key functional sites of selenium in mammals J. Biol. Chem. 283 2008 2427 2438