Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 857-862

  Edvardson, Simon ^a   Shaag, Avraham ^a   Kolesnikova, Olga ^b   Gomori, John Moshe ^a   Tarassov, Ivan ^b   Einbinder, Tom ^a   Saada, Ann ^a   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; ARGININE TRANSFER RNA LIGASE; CYTOCHROME C OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINIC ACID;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CONSANGUINITY; FEMALE; FIBROBLAST; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY; TISSUE SPECIFICITY;

EID: 35348983348     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521227     Document Type: Article

References (25)

1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for RARS2 cDNA [accession number NM_181406.2])
2. Mitomap, http://www.mitomap.org/cgi-bin/tbl9gen.pl
3. PSORT II, http://psort.ims.u-tokyo.ac.jp/form2.html
4. SIFT, http://blocks.fhcrc.org/sift/SIFT.html
5. Splice Site Score Calculation at Cold Spring Harbor Laboratory, http://rulai.cshl.edu/new_alt_exon_db2/HTML/score.html
6. Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, et al (2004) Mutant GTP-binding domain of mitochondrial elongation factor G1 associated with combined oxidative phosphorylation deficiency and early fatal hepatoencephalopathy. N Engl J Med 351:2080-2086
7. Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, et al (2006) Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 79:869-877
8. Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, et al (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80:44-58
9. Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O (2004) Defective mitochondrial translation due to a ribosomal protein (MRPS16) mutation. Ann Neurol 56:734-738
10. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303-1308
11. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, et al (2007) Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 39:534-539
12. Saada A, Shaag A, Elpeleg O (2003) mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab 79:1-5
13. Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, et al (2006) Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 78:889-896
14. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acid Res 31:3568-3571
15. Varshney U, Lee CP, RajBhandary UL (1991) Direct analysis of aminoacylation levels of tRNAs in vivo. Application to studying recognition of Escherichia coli initiator tRNA mutants by glutaminyl tRNA synthetase. J Biol Chem 266:24712-24718
16. Entelis N, Kolesnikova O, Kazakova H, Brandina I, Kamenski P, Martin RP, Tarassov I (2002) Import of nuclear encoded RNAs into yeast and human mitochondria: experimental approaches and possible biomedical applications. Genet Eng (N Y) 24:191-213
17. Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C, Sissler M (2005) Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry 44:4805-4816
18. Tzagoloff A, Shtanko A (1995) Mitochondrial and cytoplasmic isoleucyl-, glutamyl- and arginyl-tRNA synthetases of yeast are encoded by separate genes. Eur J Biochem 230:582-586
19. Leu(UUR) genes. Pediatrics 114:443-450
20. Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 27:191-194
21. Moreno-Loshuertos R, Acin-Perez R, Fernandez-Silva P, Movilla N, Perez-Martos A, Rodriguez de Cordoba S, Gallardo ME, Enriquez JA (2006) Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants. Nat Genet 38:1261-1268
22. Entelis NS, Kolesnikova OA, Martin RP, Tarassov IA (2001) RNA delivery into mitochondria. Adv Drug Deliv Rev 49:199-215
23. Schneider A, Marechal-Drouard L (2000) Mitochondrial tRNA import: are there distinct mechanisms? Trends Cell Biol 10:509-513
24. de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG (1999) Pontocerebellar hypoplasia associated with respiratory chain defects. Neuropediatrics 30:93-95
25. Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D (2006) Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 140:594-603