Association and promoter analysis of AVPR1A in finnish autism families

Autism Research

Volumn 8, Issue 5, 2015, Pages 634-639

  Kantojärvi, Katri ^a   Oikkonen, Jaana ^a,b   Kotala, Ilona ^a   Kallela, Jenni ^a   Vanhala, Raija ^b   Onkamo, Päivi ^b   Järvelä, Irma ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Association; Autism; AVPR1A; MEF2C; Network analysis; PBX; Promoter analysis; Transcription factors

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR; AVPR1A PROTEIN, HUMAN; VASOPRESSIN RECEPTOR;

ADOLESCENT; ALGORITHM; ARTICLE; AUTISM; AVPR1A GENE; BINDING AFFINITY; BINDING SITE; CHILD; FAMILY; FEMALE; FINN (CITIZEN); GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; FINLAND; GENETIC PREDISPOSITION; GENETICS;

ADOLESCENT; AUTISTIC DISORDER; CHILD; FAMILY; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, VASOPRESSIN;

EID: 84945474426     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.1473     Document Type: Article

References (31)

1. Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., & Zoghbi, H.Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185-188.
2. Auranen, M., Vanhala, R., Varilo, T., Ayers, K., Kempas, E., Ylisaukko-oja, T., et al. (2002). Genomewide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27. American Journal of Human Genetics, 71, 777-790.
3. Barbosa, A.C., Kim, M.S., Ertunc, M., Adachi, M., Nelson, E.D., McAnally, J., et al. (2008). MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function. Proceedings of the National Academy of Sciences of the United States of America, 105, 9391-9396.
4. Dietrich, J.B. (2013). The MEF2 family and the brain: From molecules to memory. Cell and Tissue Research, 352, 179-190.
5. Dietrich, J.B., Takemori, H., Grosch-Dirrigm, S., Bertorello, A., & Zwiller, J. (2012). Cocaine induces the expression of MEF2C transcription factor in rat striatum through activation of SIK1 and phosphorylation of the histone deacetylase HDAC5. Synapse, 66, 61-70.
6. Donaldson, Z.R., & Young, L.J. (2008). Oxytocin, vasopressin, and the neurogenetics of sociality. Science, 322, 900-904.
7. Fink, S., Excoffier, L., & Heckel, G. (2007). High variability and non-neutral evolution of the mammalian avpr1a gene. BMC Evolutionary Biology, 7, 176.
8. Hong, K.-W., Matsukawa, R., Hirata, Y., Hayasaka, I., Murayama, Y., Ito, S., et al. (2009). Allele distribution and effect on reporter gene expression of vasopressin receptor gene (AVPR1a)-linked VNTR in primates. Journal of Neural Transmission 116, 535-538.
9. Kantojärvi, K., Onkamo, P., Vanhala, R., Alen, R., Hedman, M., Sajantila, A., Nieminen-von Wendt, T., & Järvelä, A. (2010). Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatric Genet, 20, 102-108.
10. Kim, S.-J., Young, L.J., Gonen, D., Veenstra-VanderWeele, J., Courchesne, R., Courchesne, E., et al. (2002). Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism. Molecular Psychiatry, 7, 503-507.
11. Kuwano, Y., Kamio, Y., Kawai, T., Katsuura, S., Inada, N., Takaki, A., & Rokutan, K. (2011). Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children. PLoS ONE 6, e24723.
12. Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., et al. (2010). MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. Journal of Medical Genetics, 47, 22-29.
13. Li, H., Radford, J.C., Ragusa, M.J., Shea, K.L., McKercher, S.R., Zaremba, J.D., et al. (2008). Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo. Proceedings of the National Academy of Sciences of the United States of America, 105, 9397-9402.
14. Lyons, M.R., Schwarz, C.M., & West, A.E. (2012). Members of the myocyte enhancer factor 2 transcription factor family differentially regulate Bdnf transcription in response to neuronal depolarization. Journal of Neuroscience, 32, 12780-12785.
15. Matys, V., Fricke, E., Geffers, R., Gössling, E., Haubrock, M., Hehl, R., et al. (2003). TRANSFAC: Transcriptional regulation, from patterns to profiles. Nucleic Acids Research, 31, 374-378.
16. Meyer-Lindenberg, A., Kolachana, B., Gold, B., Olsh, A., Nicodemus, K.K., Mattay, V., et al. (2009). Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans. Molecular Psychiatry, 14, 968-975.
17. Neale, B.M., Kou, Y., Liu, L., Ma'ayan, A., Samocha, K.E., Sabo, A., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242-245.
18. Novara, F., Beri, S., Giorda, R., Ortibus, E., Nageshappa, S., Darra, F., et al. (2010). Refining the phenotype associated with MEF2C haploinsufficiency. Clinical Genetics, 78, 471-477.
19. O'Connel, J.R., & Weeks, D.E. (1998). PedCheck: A program for identification of genotype incompatibilities in linkage analysis. American Journal of Human Genetics, 63, 259-266.
20. Peltonen, L., Jalanko, A., & Varilo, T. (1999). Molecular genetics of the Finnish disease heritage. Human Molecular Genetics, 8, 1913-1923.
21. Pfeiffer, B.E., Zang, T., Wilkerson, J.R., Taniguchi, M., Maksimova, M.A., Smith, L.N., et al. (2010). Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2. Neuron, 66, 191-197.
22. Rosso, L., Keller, L., Kaessmann, H., & Hammond, R.L. (2008). Mating system and avpr1a promoter variation in primates. Biology Letters, 4, 375-378.
23. Skuse, D.H., & Gallagher, L. (2011). Genetic influences on social cognition. Pediatric Research, 69, 85R-91R.
24. Tansey, K.E., Hill, M.J., Cochrane, L.E., Gill, M., Anney, R.J.L., Gallegher, L. (2011). Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A) implications for autism. Molecular Autism, 2, 3.
25. Ukkola, L., Onkamo, P., Raijas, P., Karma, K., & Järvelä, I. (2009). Musical aptitude is associated with AVPR1A-haplotypes. PLoS ONE, 4, e5534.
26. Wassink, T.H., Piven, J., Vieland, V.J., Pietila, J., Goedken, R.J., Folstein, S.E., et al. (2004). Examination of AVPR1a as autism susceptibility gene. Molecular Psychiatry, 9, 968-972.
27. Wigginton, J.E., & Abecasis, G.R. (2005). PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics, 15, 21, 3445-3447.
28. Yang, S.Y., Cho, S.-C., Yoo, H.J., Cho, I.H., Park, M., Kim, B.N., et al. (2010a). Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. Neuroscience Letters, 479, 197-200.
29. Yang, S.Y., Cho, S.-C., Yoo, H.J., Cho, I.H., Park, M., Yoe, J., et al. (2010b). Family-based association study of microsatellites in the 5'flanking region of AVPR1A with autism spectrum disorder in the Korean population. Psychiatry Research, 178, 199-201.
30. Yirmiya, N., Rosenberg, C., Levi, S., Salomon, S., Shulman, C., Nemanov, L., et al. (2006). Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: Mediation by socialization skills. Molecular Psychiatry, 11, 488-494.
31. Zweier, M., & Rauch, A. (2011). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2, 164-170.