Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Nature Genetics

Volumn 35, Issue 2, 2003, Pages 185-189

  Varon, Raymonda ^a   Gooding, Rebecca ^b   Steglich, Christina ^a   Marns, Lorna ^b   Tang, Hua ^c   Angelicheva, Dora ^b   Yong, Kiau Kiun ^b   Ambrugger, Petra ^a   Reinhold, Anke ^a   Morar, Bharti ^b   Baas, Frank ^l   Kwa, Marcel ^l   Tournev, Ivailo ^d   Guerguelcheva, Velina ^d   Kremensky, Ivo ^d   Lochmüller, Hanns ^e   Müllner Eidenböck, Andrea ^l   Merlini, Luciano ^f   Neumann, Luitgard ^a   Bürger, Joachim ^a,g   Walter, Maggie ^e   Swoboda, Kathryn ^h   Thomas, P K ⁱ   Von Moers, Arpad ^a   Risch, Neil ^j,k   Kalaydjieva, Luba ^b   more..

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c Fred Hutchinson Cancer Research Center   (United States)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^g Munich Re   (Germany)

^h UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁱ NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^j STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k DIVISION OF RESEARCH   (United States)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PHOSPHATASE; RNA POLYMERASE II;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL CATARACT; CONGENITAL CATARACT FACIAL DYSMORPHISM NEUROPATHY SYNDROME; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; FACE DYSMORPHIA; GENE EXPRESSION; GENE MUTATION; GIPSY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; CONSERVED SEQUENCE; FACE; GENES, RECESSIVE; GYPSIES; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; NERVOUS SYSTEM DISEASES; PHOSPHOPROTEIN PHOSPHATASE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA POLYMERASE II; SYNDROME;

EUKARYOTA; INSERTION SEQUENCES;

EID: 0141618451     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1243     Document Type: Article

References (30)

1. Tournev, I. et al. Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electro-physiological observations. Ann. Neurol. 45, 742-750 (1999).
2. Tournev, I., King, R., Muddle, J., Kalaydjieva, L. & Thomas, P.K. Peripheral nerve abnormalities in the congenital cataract facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol. (Berlin) 98, 165-170 (1999).
3. Merlini, L. et al. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 58, 231-236 (2002).
4. Angelicheva, D., Tournev, I., Dye, D., Chandler, D., Thomas, P.K. & Kalaydjieva, L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur. J. Hum. Genet. 7, 560-566 (1999).
5. Chambers, R.S. & Dahmus, M.E. Purification and characterization of a phosphatase from HeLa cells which dephosphorylates the C-terminal domain of RNA polymerase II. J. Biol. Chem. 269, 26243-26248 (1994).
6. Archambault, J. et al. An essential component of a C-terminal domain phosphatase that interacts with transcription factor TFIIF in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 94, 14300-14305 (1997).
7. Vermeulen, W. et al. Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb. Symp. Quant. Biol. 59, 317-329 (1994).
8. Müller-Felber, W. et al. Marinesco-Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. Neuropediatrics 29, 97-101 (1998).
9. Kalaydjieva, L., Gresham, D. & Calafell, F. Genetic studies of the Roma (Gypsies): a review. BMC Med. Genet. 2, 5 (2001).
10. Kalaydjieva, L. et al. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur. J. Hum. Genet. 9, 97-104 (2001).
11. Gresham, D. et al. Origins and divergence of the Roma (Gypsies). Am. J. Hum. Genet. 69, 1314-1331 (2001).
12. Mitchell, G.A. et al. Splice-mediated insertion of an Alu sequence inactivates ornithine Δ-aminotransferase: A role for Alu elements in human mutation. Proc. Natl. Acad. Sci. USA 88, 815-819 (1991).
13. Lev-Maor, G., Sorek, R., Shomron, N. & Ast, G. The birth of an alternatively spliced exon: 3′ splice site selection in Alu exons. Science 300, 1288-1291 (2003).
14. Licciardo, P., Ruggiero, L., Lania, L. & Majello, B. Transcription activation by targeted recruitment of the RNA polymerase II CTD phosphatase FCP1. Nucleic Acids Res. 29, 3539-3545 (2001).
15. Maniatis, T. & Reed, R. An extensive network of coupling among gene expression machines. Nature 416, 499-506 (2002).
16. Chambers, R.S., Wang, B.Q., Burton, Z.F. & Dahmus, M.E. The activity of COOH-terminal domain phosphatase is regulated by a docking site on RNA polymerase II and by the general transcription factors IIF and IIB. J. Biol. Chem. 270, 14962-14969 (1995).
17. Cho, H. et al. A protein phosphatase functions to recycle RNA polymerase II. Genes Dev. 13, 1540-1552 (1999).
18. Cho, H., Kobor, M., Kim, M., Greenblatt, J. & Buratowski, S. Opposing effects of Ctk1 kinase and Fcp1 phosphatase at Ser 2 of the RNA polymerase II C-terminal domain. Genes & Dev. 15, 3319-3329 (2001).
19. Mandal, S.S., Cho, H., Kim, S., Cabane, K. & Reinberg, D. FCP1, a phosphatase specific for the heptapeptide repeat of the largest subunit of RNA polymerase II, stimulates transcription elongation. Mol. Cell. Biol. 22, 7543-7552 (2002).
20. Hengartner, C.J. et al. Temporal regulation of RNA polymerase II by Srb10 and Kin28 cyclin-dependent kinases. Mol. Cell 2, 43-53 (1998).
21. Washington, K. et al. Protein phosphatase-1 dephosphorylates the C-terminal domain of RNA polymerase 2. J. Biol. Chem. 277, 40442-40448 (2002).
22. Yeo, M., Lin, P.S., Dahmus, M.S. & Gill, G.N. A novel RNA polymerase II C-terminal domain phosphatase that preferentially dephosphorylates serine 5. J. Biol. Chem. 278, 26078-26085 (2003).
23. Lagier-Tourenne, C. et al. Homozygosity mapping of Marinesco-Sjö gren syndrome to 5q31. Eur. J. Hum. Genet. (in the press).
24. Cottingham, R.W., Idury, R.M. & Shaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252-263 (1993).
25. Lathrop, G.M. & Lalouel, J.-M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465 (1984).
26. Kruglyak, L., Daly, M.J. & Lander, E.S. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am. J. Hum. Genet. 56, 519-527 (1995).
27. Reeve, J.P. & Rannala, B. DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 18, 894-895 (2002).
28. Hunter, M. et al. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr. Res. 51, 602-606 (2002).
29. Nachman, M.W. & Crowell, S. Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297-304 (2000).
30. Rogozin, I.B. & Pavlov, Y.I. Theoretical analysis of mutation hotspots and their DNA sequence specificity. Mutat. Res. 544, 65-85 (2003).