PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 1, 2009, Pages 124-129

  Chen, Chiung Mei ^a   Hou, Yi Ting ^b   Liu, Ju Yun ^b   Wu, Yih Ru ^a   Lin, Chih Hsin ^b   Fung, Hon Chung ^a   Hsu, Wen Chuin ^a   Hsu, Yuying ^b   Lee, Shen Hung ^b   Hsieh Li, Hsiu Mei ^b   Su, Ming Tsan ^b   Chen, Shui Tein ^c   Lane, Hsien Yuan ^d   Lee Chen, Guey Jen ^b  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^c INSTITUTE OF BIOLOGICAL CHEMISTRY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Alzheimer's disease; CAG repeat polymorphism; Essential tremor; PPP2R2B; Promoter assay

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; EMBRYO CELL; ESSENTIAL TREMOR; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; KIDNEY CELL; MALE; MENTAL DISEASE; MICROTUBULE; NERVE CELL; NEUROBLASTOMA; PARKINSON DISEASE; PRIORITY JOURNAL; SCHIZOPHRENIA; TANDEM REPEAT; TAUOPATHY;

AGED; ALZHEIMER DISEASE; CLONING, MOLECULAR; ESSENTIAL TREMOR; ETHNIC GROUPS; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PROMOTER REGIONS, GENETIC; PROTEIN PHOSPHATASE 2; TAIWAN; TRINUCLEOTIDE REPEATS;

EID: 58849090015     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30785     Document Type: Article

References (28)

1. Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O'Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M. 2005. Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet 69(Pt5):528-534.
2. Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. 2002. Analysis of SCA8 and SCA12loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7CAG expansions. J Neurol 249(7):923-929.
3. Chen CM, Lane HY, Wu YR, Ro LS, Chen FL, Hung WL, Hou YT, Lin CY, Huang SY, Chen IC, Soong BW, Li ML, Hsieh-Li HM, Su MT, Lee-Chen GJ. 2005. Expanded trinucleotide repeats in the TBP/SCA17 genemapped to chromosome 6q27 are associated with schizophrenia. Schizophr Res 78(2-3):131-136.
4. Cirulli ET, Goldstein DB. 2007. In vitro assays fail to predict in vivo effects of regulatory polymorphisms. Hum Mol Genet 16(16):1931-1939.
5. Deutsch SI, Rosse RB, Lakshman RM. 2006. Dysregulation of tau phosphorylation is a hypothesized point of convergence in the pathogenesis of alzheimer's disease, frontotemporal dementia and schizophrenia with therapeutic implications. Prog Neuropsychopharmacol Biol Psychiatry 30(8):1369-1380.
6. Findley LJ, Koller WC. 1995. Definitions and behavioral classifications. In: Findley LJ, Koller WC, editors. Handbook of tremor disorders. New York: Marcel Dekker. pp. 1-5.
7. Frasier M, Walzer M, McCarthy L, Magnuson D, Lee JM, Haas C, Kahle P, Wolozin B. 2005. Tau phosphorylation increases in symptomatic mice overexpressing A30P a-synuclein. Exp Neurol 192(2):274-287.
8. Fujigasaki H, Verma IC, Camuzat A, Margolis RL, Zander C, Lebre AS, Jamot L, Saxena R, Anand I, Holmes SE, Ross CA, Durr A, Brice A. 2001. SCA12 is a rare locus for autosomal dominant cerebellar ataxia:Astudy of an Indian family. Ann Neurol 49(1):117-121.
9. Gelb DJ, Oliver E, Gilman S. 1999. Diagnostic criteria for Parkinson disease. Arch Neurol 56(1):33-39.
10. Gong CX, Wang JZ, Iqbal K, Grundke-Iqbal I. 2003. Inhibition of protein phosphatase 2A induces phosphorylation and accumulation of neurofilaments in metabolically active rat brain slices. Neurosci Lett 340(2):107-110.
11. Gordon D, Finch SJ, Nothnagel M, Ott J. 2002. Power and sample size calculations for case-control genetic association tests when errors present: Application to single nucleotide polymorphisms. Hum Hered 54(1):22-33.
12. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. 1999. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2Bis associated with SCA12. Nat Genet 23(4):391-392.
13. Holmes SE, Hearn EO, Ross CA, Margolis RL. 2001. SC A12: An unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 56(3-4):397-403.
14. Holmes SE, O'Hearn E, Margolis RL. 2003. Why is SCA12 different from other SCAs? Cytogenet Genome Res 100(1-4):189-197.
15. Iqbal K, Alonso AC, Chen S, Chohan MO, El-Akkad E, Gong CX, Khatoon S, Li B, Liu F, Rahman A, Tanimukai H, Grundke-Iqbal I. 2005. Tau pathology in Alzheimer disease and other tauopathies. Biochim Biophys Acta 1739(2-3):198-210.
16. Kamibayashi C, Estes R, Lickteig RL, Yang SI, Craft C, Mumby MC. 1994. Comparison of heterotrimeric protein phosphatase 2A containing different B subunits. J Biol Chem 269(31):20139-20148.
17. Lalioti MD, Scott HS, Antonarakis SE. 1999. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in E PM1. Hum Mol Genet 8(9):1791-1798.
18. Mayer RE, Hendrix P, Cron P, Matthies R, Stone SR, Goris J, Merlevede W, Hofsteenge J, Hemmings BA. 1991. Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: Evidence for a neuronal-specific isoform. Biochemistry 30(15):3589-3597.
19. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. 1984. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34(7):939-944.
20. Rodríguez-Navarro JA, Casarejos MJ, Menéndez J, Solano RM, Rodal I, Gómez A, Yébenes JG, Mena MA. 2007. Mortality, oxidative stress and tau accumulation during ageing in parkin null mice. J Neurochem 103(1):98-114.
21. Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S. 2001. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 50(6):796-800.
22. Strack S, Zaucha JA, Ebner FF, Colbran RJ, Wadzinski BE. 1998. Brain protein phosphatase 2A: Developmental regulation and distinct cellular and subcellular localization by B subunits. J Comp Neurol 392(4):515-527.
23. Sulek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J. 2004. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: Allele distribution in a Polish control group. J Appl Genet 45(1):101-105.
24. Virshup DM. 2000. Protein phosphatase 2A: A panoply of enzymes. Curr Opin Cell Biol 12(2):180-185.
25. Wang J, Tung YC, Wang Y, Li XT, Iqbal K, Grundke-Iqbal I. 2001. Hyperphosphorylation and accumulation of neurofilament proteins in Alzheimer disease brain and in okadaic acid-treated SY5Y cells. FEBS Lett 507(1):81-87.
26. Wang HK, Fung HC, Hsu WC, Wu YR, Lin JC, Ro LS, Chang KH, Hwu FJ, Hsu Y, Huang SY, Lee-Chen GJ, Chen CM. 2006. Apolipoprotein E, angiotensin-converting enzyme and kallikrein gene polymorphisms and the risk of Alzheimer's disease and vascular dementia. J Neural Transm 113(10):1499-1509.
27. Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ. 2004. Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet 65(3):209-214.
28. Zar JH. 1999. Biostatistical analysis, 4th edition. Upper Saddle River, NJ: Prentice-Hall.