G/A polymorphism in intronic sequence affects the processing of MAO-B gene in patients with Parkinson disease

FEBS Letters

Volumn 586, Issue 20, 2012, Pages 3698-3704

  Jakubauskiene, Egle ^a   Janaviciute, Valda ^a   Peciuliene, Inga ^a   Söderkvist, Peter ^b   Kanopka, Arvydas ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

^b LINKÖPING UNIVERSITY   (Sweden)

Author keywords

Monoamino oxidase B; Parkinson disease; Pre mRNA splicing; Single nuclotide polymorphism (SNP); Splicesome; SR protein

Indexed keywords

ALANINE; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME B; GLYCINE; MESSENGER RNA; SERINE ARGININE RICH PROTEIN;

ARTICLE; CONTROLLED STUDY; ENHANCER REGION; ENZYME ACTIVITY; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC MARKER; HUMAN; INTRON; MONOAMINE OXIDASE B GENE; MUTATOR GENE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BIOLOGICAL MARKERS; BLOOD PLATELETS; HUMANS; INTRONS; MONOAMINE OXIDASE; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA PRECURSORS; RNA SPLICING;

EID: 84867580304     PISSN: 00145793     EISSN: 18733468     Source Type: Journal    
DOI: 10.1016/j.febslet.2012.08.028     Document Type: Article

References (33)

1. L.H. Sanders, and J.T. Greenamyre Regulation of complex I by Engrailed is complex too Nat. Neurosci. 14 2011 1221 1222
2. T. Thomas Monoamine oxidase-B inhibitors in the treatment of Alzheimer's disease Neurobiol. Aging. 21 2000 343 348
3. G. Stern Neuroprotection by selegiline and other MAO inhibitors J. Neural Transm. Suppl. 52 1998 99 107
4. J.C. Shih, J. Grimsby, and K. Chen The expression of human MAO-A and B genes J. Neural Transm. Suppl. 32 1990 41 47
5. J. Grimsby, N.C. Lan, R. Neve, K. Chen, and J.C. Shih Tissue distribution of human monoamine oxidase A and B mRNA J. Neurochem. 55 1990 1166 1169
6. S.L. Ho, A.L. Kapadi, D.B. Ramsden, and A.C. Williams An allelic association study of monoamine oxidase B in Parkinson's disease Ann. Neurol. 37 1995 403 405
7. J.H. Kurth, M.C. Kurth, S.E. Poduslo, and J.D. Schwankhaus Association of a monoamine oxidase B allele with Parkinson's disease Ann. Neurol. 33 1993 368 372
8. J.L. Sobell, T.J. Lind, D.D. Hebrink, L.L. Heston, and S.S. Sommer Screening the monoamine oxidase B gene in 100 male patients with schizophrenia: a cluster of polymorphisms in African-Americans but lack of functionally significant sequence changes Am. J. Med. Genet. 74 1997 44 49
9. F.M. Ausubel, R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl Current Protocols in Molecular Biology V. Chanda, 1995 John Wiley and Sons Inc. New York
10. S. Wu, and M.R. Green Identification of a human protein that recognizes the 3′ splice site during the second step of pre-mRNA splicing EMBO J. 16 1997 4421 4432
11. P. Bongioanni, C. Mondino, B. Boccardi, M. Borgna, and M. Castagna Monoamine oxidase molecular activity in platelets of parkinsonian and demented patients Neurodegeneration 5 1996 351 357
12. H. Garpenstrand, J. Ekblom, K. Forslund, G. Rylander, and L. Oreland Platelet monoamine oxidase activity is related to MAOB intron 13 genotype J. Neural Transm. Park. Dis. Dement. Sect. 107 2000 523 530
13. P. Costa-Mallen DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls Mov. Disord. 19 2004 76 83
14. A. De Klein, P.H. Riegman, E.K. Bijlsma, A. Heldoorn, M. Muijtjens, M.A. den Bakker, C.J. Avezaat, and E.C. Zwarthoff A G →A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2 Hum. Mol. Genet. 7 1998 393 398
15. F.O. Desmet, D. Hamroun, M. Lalande, G. Collod-Beroud, M. Claustres, and C. Beroud Human splicing finder: an online bioinformatics tool to predict splicing signals Nucleic Acids Res. 37 2009 e67
16. A.M. Zahler, W.S. Lane, J.A. Stolk, and M.B. Roth SR proteins: a conserved family of pre-mRNA splicing factors Genes Dev. 6 1992 837 847
17. W. Danielczyk, M. Streifler, C. Konradi, P. Riederer, and G. Moll Platelet MAO-B activity and the psychopathology of Parkinson's disease, senile dementia and multi-infarct dementia Acta Psychiatr. Scand. 78 1988 730 736
18. G.B. Steventon, S.G. Sturman, M.T. Heafield, R.H. Waring, J. Napier, and A.C. Williams Platelet monoamine oxidase-B activity in Parkinson's disease J. Neural Transm. Park. Dis. Dement. Sect. 1 1989 255 261
19. J. Balciuniene, L. Emilsson, L. Oreland, U. Pettersson, and E. Jazin Investigation of the functional effect of monoamine oxidase polymorphisms in human brain Hum. Genet. 110 2002 1 7
20. T.A. Cooper, L. Wan, and G. Dreifuss RNA and disease Curr. Opin. Cell. Biol. 136 2009
21. B.K. Dredge, A.D. Polydorides, and R.B. Darnell The splice of life: alternative splicing and neurological disease Nat. Rev. Neurosci. 2 2001 43 50
22. A.J. McCullough, and S.M. Berget An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5′ splice sites Mol. Cell. Biol. 20 2000 9225 9235
23. J. Hull Identification of common genetic variation that modulates alternative splicing PLoS Genet. 3 2007 e99
24. E.L. Heinzen Tissue-specific genetic control of splicing: implications for the study of complex traits PLoS Biol. 6 2008 e1
25. T. Kawase Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen Blood 110 2007 1055 1063
26. D.B. Carlini, and J.E. Genut Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers J. Mol. Evol. 62 2006 89 98
27. J.L. Manley, and R. Tacke SR proteins and splicing control Genes Dev. 10 1996 1569 1579
28. Z. Wang, and C.B. Burge Splicing regulation: from a parts list of regulatory elements to an integrated splicing code RNA 14 2008 802 813
29. K.J. Hertel, K.W. Lynch, and T. Maniatis Common themes in the function of transcription and splicing enhancers Curr. Opin. Cell. Biol. 9 1997 350 357
30. C. Barreau, L. Paillard, A. Mereau, and H.B. Osborne Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions Biochimie 88 2006 515 525
31. J.P. Venables Downstream intronic splicing enhancers FEBS Lett. 581 2007 4127 4131
32. B.G. Yue, and G. Akusjarvi A downstream splicing enhancer is essential for in vitro pre-mRNA splicing FEBS Lett. 451 1999 10 14
33. I. Wetterberg, G. Bauren, and L. Wieslander The intranuclear site of excision of each intron in Balbiani ring 3 pre-mRNA is influenced by the time remaining to transcription termination and different excision efficiencies for the various introns RNA 2 1996 641 651