Sequencing of the ANKYRIN 3 gene (ANK3) encoding ankyrin G in bipolar disorder reveals a non-conservative amino acid change in a short isoform of ankyrin G

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 159 B, Issue 3, 2012, Pages 328-335

  Dedman, Alexandra ^a   McQuillin, Andrew ^a   Kandaswamy, Radhika ^a   Sharp, Sally ^a   Anjorin, Adebayo ^a   Gurling, Hugh ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Genome wide association study; Mutation; Replication; Susceptibility

Indexed keywords

ANKYRIN; ANKYRIN 3; ANKYRIN G; GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BIPOLAR DISORDER; CLINICAL ARTICLE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE; HUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACIDS; ANKYRINS; BIPOLAR DISORDER; CONSERVED SEQUENCE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA;

EID: 84857968953     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32030     Document Type: Article

References (42)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7(4): 248- 249.
2. Anthony K, Gallo JM. 2010. Aberrant RNA processing events in neurological disorders. Brain Res 1338: 67- 77.
3. Atz ME, Rollins B, Vawter MP. 2007. NCAM1 association study of bipolar disorder and schizophrenia: Polymorphisms and alternatively spliced isoforms lead to similarities and differences. Psychiatr Genet 17(2): 55- 67.
4. Badner JA, Gershon ES. 2002. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 7(4): 405- 411.
5. Barnett JH, Smoller JW. 2009. The genetics of bipolar disorder. Neuroscience 164(1): 331- 343.
6. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21(2): 263- 265.
7. Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, Schulze TG, Cichon S, Rietschel M, Nothen MM, et al. 2008. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 13(2): 197- 207.
8. Bennett V. 1992. Ankyrins. Adaptors between diverse plasma membrane proteins and the cytoplasm. J Biol Chem 267(13): 8703- 8706.
9. Bennett V, Otto E, Kunimoto M, Kordeli E, Lambert S. 1991. Diversity of ankyrins in the brain. Biochem Soc Trans 19(4): 1034- 1039.
10. Bertelsen A. 1987. A Danish twin study of Manic-Depressive disorders. Br J Psychiatry 130: 330- 351.
11. Cunha SR, Mohler PJ. 2009. Ankyrin protein networks in membrane formation and stabilization. J Cell Mol Med 13(11-12): 4364- 4376.
12. Psychiatric GWAS Consortium Bipolar Disorder Working Group. 2011. Combined analysis of 11 genomewide association studies of bipolar disorder identifies strong evidence for multiple susceptibility loci. Nat Genet DOI: 10.1038/ng.943.
13. Fairbrother WG, Yeh RF, Sharp PA, Burge CB. 2002. Predictive identification of exonic splicing enhancers in human genes. Science 297(5583): 1007- 1013.
14. Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK., et al. 2008. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 40(9): 1056- 1058.
15. Grillo G, Turi A, Licciulli F, Mignone F, Liuni S, Banfi S, Gennarino VA, Horner DS, Pavesi G, Picardi E., et al. 2010. UTRdb and UTRsite (RELEASE 2010): A collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res 38: (Database issue): D75- D80.
16. Hedstrom KL, Ogawa Y, Rasband MN. 2008. AnkyrinG is required for maintenance of the axon initial segment and neuronal polarity. J Cell Biol 183(4): 635- 640.
17. Jenkins SM, Bennett V. 2002. Developing nodes of Ranvier are defined by ankyrin-G clustering and are independent of paranodal axoglial adhesion. Proc Natl Acad Sci USA 99(4): 2303- 2308.
18. Kendler KS, Pedersen NL, Farahmand BY, Persson PG. 1996. The treated incidence of psychotic and affective illness in twins compared with population expectation: A study in the Swedish Twin and Psychiatric Registries. Psychol Med 26(6): 1135- 1144.
19. Kieseppa T, Partonen T, Haukka J, Kaprio J, Lonnqvist J. 2004. High concordance of bipolar I disorder in a nationwide sample of twins. Am J Psychiatry 161(10): 1814- 1821.
20. Kordeli E, Lambert S, Bennett V. 1995. AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier. J Biol Chem 270(5): 2352- 2359.
21. Lee MT, Chen CH, Lee CS, Chen CC, Chong MY, Ouyang WC, Chiu NY, Chuo LJ, Chen CY, Tan HK., et al. 2010. Genome-wide association study of bipolar I disorder in the Han Chinese population. Mol Psychiatry 16(5): 548- 556.
22. Loya CM, Van Vactor D, Fulga TA. 2010. Understanding neuronal connectivity through the post-transcriptional toolkit. Genes Dev 24(7): 625- 635.
23. McGuffin P, Farmer A, Harvey I. 1991. A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of the OPCRIT system. Arch Gen Psychiatry 48(8): 764- 770.
24. McGuffin P, Rijsdijk F, Andrew M, Sham P, Katz R, Cardno A. 2003. The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 60(5): 497- 502.
25. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, et al. 2005. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 77(4): 582- 595.
26. Merikangas KR, Jin R, He JP, Kessler RC, Lee S, Sampson NA, Viana MC, Andrade LH, Hu C, Karam EC, et al. 2011. Prevalence and correlates of bipolar spectrum disorder in the world mental health survey initiative. Arch Gen Psychiatry 68(3): 241- 251.
27. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP, Boehnke M, Abecasis GR, Willer CJ. 2010. LocusZoom: Regional visualization of genome-wide association scan results. Bioinformatics 26(18): 2336- 2337.
28. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. 2007. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3): 559- 575.
29. R Development Core Team. 2011. R: A Language and Environment for Statistical Computing.
30. Schulze TG, Detera-Wadleigh SD, Akula N, Gupta A, Kassem L, Steele J, Pearl J, Strohmaier J, Breuer R, Schwarz M, et al. 2009. Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Mol Psychiatry 14(5): 487- 491.
31. Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R, Tozzi F, Li JZ, Burmeister M, Absher D, et al. 2009. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci USA 106(18): 7501- 7506.
32. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, DePaulo JR, Baron M, Gershon ES, et al. 2003. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet 73(1): 49- 62.
33. Shirahata E, Iwasaki H, Takagi M, Lin C, Bennett V, Okamura Y, Hayasaka K. 2006. Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6. J Neurophysiol 96(3): 1347- 1357.
34. Sklar P, Ripke S, Scott LJ, Andreassen OA, Cichon S, Craddock N, Edenberg HJ, Nurnberger JI Jr, Rietschel M, Blackwood D, et al. 2011. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43(10): 977- 983.
35. Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, et al. 2008. Whole-genome association study of bipolar disorder. Mol Psychiatry 13(6): 558- 569.
36. Smith EN, Bloss CS, Badner JA, Barrett T, Belmonte PL, Berrettini W, Byerley W, Coryell W, Craig D, Edenberg HJ, et al. 2009. Genome-wide association study of bipolar disorder in European American and African American individuals. Mol Psychiatry 14(8): 755- 763.
37. Spitzer R, Endicott J. 1978. Research diagnostic criteria for a selected group of functional disorders. New York: New York State Psychiatric Institute.
38. Spitzer R, Endicott J. 1977. The schedule for affective disorder and schizophrenia, lifetime version. New York: New York State Psychiatric Institute.
39. Staden R. 1996. The Staden sequence analysis package. Mol Biotechnol 5(3): 233- 241.
40. Takata A, Kim SH, Ozaki N, Iwata N, Kunugi H, Inada T, Ujike H, Nakamura K, Mori N, Ahn YM, et al. 2011. Association of ANK3 with bipolar disorder confirmed in East Asia. Am J Med Genet B Neuropsychiatr Genet 156(3): 312- 315.
41. Watanuki T, Funato H, Uchida S, Matsubara T, Kobayashi A, Wakabayashi Y, Otsuki K, Nishida A, Watanabe Y. 2008. Increased expression of splicing factor SRp20 mRNA in bipolar disorder patients. J Affect Disord 110(1-2): 62- 69.
42. Zhou D, Lambert S, Malen PL, Carpenter S, Boland LM, Bennett V. 1998. AnkyrinG is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing. J Cell Biol 143(5): 1295- 1304.