Schizophrenia Research
Volume 120, Issue 1 , Pages 159-166 , July 2010

Lymphoblast and brain expression of AHI1 and the novel primate-specific gene, C6orf217, in schizophrenia and bipolar disorder

  • Alexandra Slonimsky

      Affiliations

    • Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
  • ,
  • Itzchak Levy

      Affiliations

    • Psychiatry Research Unit, Faculty of Health Sciences, Ben Gurion University of the Negev and Mental Health Center, Beer Sheva, Israel
  • ,
  • Yoav Kohn

      Affiliations

    • Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
  • ,
  • Amihai Rigbi

      Affiliations

    • Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
  • ,
  • Edna Ben-Asher

      Affiliations

    • Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
  • ,
  • Doron Lancet

      Affiliations

    • Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
  • ,
  • Galila Agam

      Affiliations

    • Psychiatry Research Unit, Faculty of Health Sciences, Ben Gurion University of the Negev and Mental Health Center, Beer Sheva, Israel
  • ,
  • Bernard Lerer

      Affiliations

    • Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
    • Corresponding Author InformationCorresponding author. Tel.: +972 2 6777185; fax: +972 2 6439294.

Received 11 February 2010 ,Revised 26 March 2010 ,Accepted 30 March 2010.

References 

  1. Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, et al. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum. Mol. Genet. 2008;17:3887–3896
  2. Amann-Zalcenstein D, Avidan N, Kanyas K, Ebstein RP, Kohn Y, Hamdan A, et al. AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia. Eur. J. Hum. Genet. 2006;14:1111–1119
  3. Behan AT, Byrne C, Dunn MJ, Cagney G, Cotter DR. Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression. Mol. Psychiatry. 2009;14:601–613
  4. Bennett ER, Yedgar S, Lerer B, Ebstein RP. Phospholipase A2 activity in Epstein-Barr virus-transformed lymphoblast cells from schizophrenic patients. Biol. Psychiatry. 1991;29:1058–1062
  5. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 2004;75:979–987
  6. Doering JE, Kane K, Hsiao YC, Yao C, Shi B, Slowik AD, et al. Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J. Comp. Neurol. 2008;511:238–256
  7. Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008;74:1139–1149
  8. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 2004;36:1008–1013
  9. Ingason A, Sigmundsson T, Steinberg S, Sigurdsson E, Haraldsson M, Magnusdottir BB, et al. Support for involvement of the AHI1 locus in schizophrenia. Eur. J. Hum. Genet. 2007;15:988–991
  10. Ingason, A., Giegling, I., Cichon, S., Hansen, T., Rasmussen, H. B., Nielsen, J., Jurgens, G., Muglia, P., Hartmann, A. M., Strengman, E., Vasilescu, C., Muhleisen, T. W., Djurovic, S., Melle, I., Lerer, B., Moller, H. J., Francks, C., Pietilainen, O. P., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Walshe, M., Vassos, E., Di Forti, M., Murray, R., Bonetto, C., Tosato, S., Cantor, R. M., Rietschel, M., Craddock, N., Owen, M. J., Peltonen, L., Andreassen, O. A., Nothen, M. M., St Clair, D., Ophoff, R. A., O'Donovan, M. C., Collier, D. A., Werge, T., Rujescu, D., 2010. A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Human Molecular Genetics 19, 1379–1386.
  11. Jiang X, Hanna Z, Kaouass M, Girard L, Jolicoeur P. Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. J. Virol. 2002;76:9046–9059
  12. Kirov G, Zaharieva I, Georgieva L, Moskvina V, Nikolov I, Cichon S, et al. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Mol. Psychiatry. 2009;14:796–803
  13. Law AJ, Kleinman JE, Weinberger DR, Weickert CS. Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia. Hum. Mol. Genet. 2007;16:129–141
  14. Law AJ, Lipska BK, Weickert CS, Hyde TM, Straub RE, Hashimoto R, et al. Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5′ SNPs associated with the disease. Proc. Natl Acad. Sci. USA. 2006;103:6747–6752
  15. Lencz T, Morgan TV, Athanasiou M, Dain B, Reed CR, Kane JM, et al. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol. Psychiatry. 2007;12:572–580
  16. Lerer B, Segman RH, Hamdan A, Kanyas K, Karni O, Kohn Y, et al. Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24. Mol. Psychiatry. 2003;8:488–498
  17. Levi A, Kohn Y, Kanyas K, Amann D, Pae CU, Hamdan A, et al. Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval. Eur. J. Hum. Genet. 2005;13:763–771
  18. Luoma S, Hakko H, Ollinen T, Jarvelin MR, Lindeman S. Association between age at onset and clinical features of schizophrenia: the Northern Finland 1966 birth cohort study. Eur. Psychiatry. 2008;23:331–335
  19. Mah S, Nelson MR, Delisi LE, Reneland RH, Markward N, James MR, et al. Identification of the semaphorin receptor PLXNA2 as a candidate for susceptibility to schizophrenia. Mol. Psychiatry. 2006;11:471–478
  20. Nicodemus KK, Law AJ, Luna A, Vakkalanka R, Straub RE, Kleinman JE, et al. A 5′ promoter region SNP in NRG1 is associated with schizophrenia risk and type III isoform expression. Mol. Psychiatry. 2009;14:741–743
  21. O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat. Genet. 2008;40:1053–1055
  22. Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur. J. Hum. Genet. 2007;15:511–521
  23. Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 2006;43:334–339
  24. Renou J, De Luca V, Zai CC, Bulgin N, Remington G, Meltzer HY, et al. Multiple variants of the DRD3, but not BDNF gene, influence age-at-onset of schizophrenia. Mol. Psychiatry. 2007;12:1058–1060
  25. Sheng G, Xu X, Lin YF, Wang CE, Rong J, Cheng D, et al. Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J. Clin. Investig. 2008;118:2785–2795
  26. Shi Z, Liang N, Xu W, Li K, Sheng G, Liu J, et al. Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1. Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2009;65:361–363
  27. Shifman S, Johannesson M, Bronstein M, Chen SX, Collier DA, Craddock NJ, et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet. 2008;4:e28
  28. Sullivan PF, Lin D, Tzeng JY, van den Oord E, Perkins D, Stroup TS, et al. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol. Psychiatry. 2008;13:570–584
  29. van Os J, Kapur S. Schizophrenia. Lancet. 2009;374:635–645
  30. Yu F, Keinan A, Chen H, Ferland RJ, Hill RS, Mignault AA, et al. Detecting natural selection by empirical comparison to random regions of the genome. Hum. Mol. Genet. 2009;18:4853–4867

PII: S0920-9964(10)01221-1

doi: 10.1016/j.schres.2010.03.041

Schizophrenia Research
Volume 120, Issue 1 , Pages 159-166 , July 2010