Protocadherin α (PCDHA) as a novel susceptibility gene for autism

Journal of Psychiatry and Neuroscience

Volumn 38, Issue 3, 2013, Pages 192-198

  Anitha, Ayyappan ^a   Thanseem, Ismail ^a   Nakamura, Kazuhiko ^a   Yamada, Kazuo ^b   Iwayama, Yoshimi ^b   Toyota, Tomoko ^b   Iwata, Yasuhide ^a   Suzuki, Katsuaki ^a   Sugiyama, Toshiro ^a   Tsujii, Masatsugu ^a,c   Yoshikawa, Takeo ^b   Mori, Norio ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^c CHUKYO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANALYSIS OF VARIANCE; ARTICLE; AUTISM; AUTISM DIAGNOSTIC INTERVIEW REVISED; FEMALE; GENE; GENE CLUSTER; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POWER ANALYSIS; PROTOCADHERIN ALPHA GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84876543911     PISSN: 11804882     EISSN: 14882434     Source Type: Journal    
DOI: 10.1503/jpn.120058     Document Type: Article

References (47)

1. Kelleher RJ III, Bear MF. The autistic neuron: Troubled translation? Cell 2008;135:401-406.
2. Munno DW, Syed NI. Synaptogenesis in the CNS: an odyssey from wiring together to firing together. J Physiol 2003;552:1-11.
3. Sperry RW. Chemoaffinity in the orderly growth of nerve fiber patterns and connections. Proc Natl Acad Sci U S A 1963;50:703-710.
4. Jontes JD, Phillips GR. Selective stabilization and synaptic specificity: a new cell-biological model. Trends Neurosci 2006;29:186-191.
5. Kohmura N, Senzaki K, Hamada S, et al. Diversity revealed by a novel family of cadherins expressed in neurons at a synaptic complex. Neuron 1998;20:1137-1151.
6. Wu Q, Maniatis T. A striking organization of a large family of human neural cadherin-like cell adhesion genes. Cell 1999;97:779-790.
7. Frank M, Kemler R. Protocadherins. Curr Opin Cell Biol 2002;14: 557-562.
8. Tasic B, Nabholz CE, Baldwin KK, et al. Promoter choice determines splice site selection in protocadherin alpha and gamma pre- mRNA splicing. Mol Cell 2002;10:21-33.
9. Ribich S, Tasic B, Maniatis T. Identification of long-range regulatory elements in the protocadherin-alpha gene cluster. Proc Natl Acad Sci U S A 2006;103:19719-19724.
10. Esumi S, Kakazu N, Taguchi Y, et al. Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons. Nat Genet 2005;37:171-176.
11. Belmonte MK, Allen G, Beckel-Mitchener A, et al. Autism and abnormal development of brain connectivity. J Neurosci 2004;24:9228-9231.
12. Jou RJ, Jackowski AP, Papademetris X, et al. Diffusion tensor imaging in autism spectrum disorders: preliminary evidence of abnormal neural connectivity. Aust N Z J Psychiatry 2011;45:153-162.
13. Zoghbi HY. Postnatal neurodevelopmental disorders: Meeting at the synapse? Science 2003;302:826-830.
14. Katori S, Hamada S, Noguchi Y, et al. Protocadherin-alpha family is required for serotonergic projections to appropriately innervate target brain areas. J Neurosci 2009;29:9137-9147.
15. Cook EH, Leventhal BL. The serotonin system in autism. Curr Opin Pediatr 1996;8:348-354.
16. Chugani DC. Role of altered brain serotonin mechanisms in autism. Mol Psychiatry 2002;7(Suppl 2):S16-S17.
17. Nakamura K, Sekine Y, Ouchi Y, et al. Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch Gen Psychiatry 2010;67:59-68.
18. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82:477-488.
19. Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008;321:218-223.
20. Iossifov I, Ronemus M, Levy D, et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012;74:285-299.
21. Geschwind DH, Sowinski J, Lord C, et al. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 2001;69:463-466.
22. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview- Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994;24:659-685.
23. Ranade K, Chang MS, Ting CT, et al. High-throughput genotyping with single nucleotide polymorphisms. Genome Res 2001;11:1262-1268.
24. Lewontin RC. On measures of gametic disequilibrium. Genetics 1988;120:849-52.
25. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229.
26. Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010;19:4072-4082.
27. Risch N. Implications of multilocus inheritance for gene-disease association studies. Theor Popul Biol 2001;60:215-220.
28. Campbell DB, Sutcliffe JS, Ebert PJ, et al. A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 2006;103:16834-16839.
29. Lerer E, Levi S, Salomon S, et al. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Mot Psychiatry 2008;13:980-988.
30. Ma DQ, Rabionet R, Konidari I, et al. Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. Am J Med Genet B Neuropsychiatr Genet 2010;153B:477-483.
31. Sousa I, Clark TG, Holt R, et al. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mot Autism 2010;1:7.
32. Dahlgren SO, Gillberg C. Symptoms in the first two years of life. A preliminary population study of infantile autism. Eur Arch Psychiatry Neurol Sci 1989;238:169-174.
33. De Giacomo A, Fombonne E. Parental recognition of developmental abnormalities in autism. Eur Child Adolesc Psychiatry 1998;7:131-136.
34. Morishita H, Murata Y, Esumi S, et al. CNR/Pcdhalpha family in subplate neurons, and developing cortical connectivity. Neuroreport 2004;15:2595-2599.
35. Shimojima K, Isidor B, Le Caignec C, et al. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A 2011;155A:732-736.
36. Wang X, Weiner JA, Levi S, et al. Gamma protocadherins are required for survival of spinal interneurons. Neuron 2002;36:843-854.
37. Emond MR, Jontes JD. Inhibition of protocadherin-alpha function results in neuronal death in the developing zebrafish. Dev Biol 2008;321:175-187.
38. Weiner JA, Wang X, Tapia JC, et al. Gamma protocadherins are required for synaptic development in the spinal cord. Proc Natl Acad Sci U S A 2005;102:8-14.
39. Hasegawa S, Hamada S, Kumode Y, et al. The protocadherin-alpha family is involved in axonal coalescence of olfactory sensory neurons into glomeruli of the olfactory bulb in mouse. Mol Cell Neurosci 2008;38:66-79.
40. Fukuda E, Hamada S, Hasegawa S, et al. Down-regulation of protocadherin-alpha A isoforms in mice changes contextual fear conditioning and spatial working memory. Eur J Neurosci 2008;28: 1362-1376.
41. Baumgarten HG, Grozdanovic Z. Psychopharmacology of central serotonergic systems. Pharmacopsychiatry 1995;28(Suppl 2):73-79.
42. Chugani DC, Muzik O, Behen M, et al. Developmental changes in brain serotonin synthesis capacity in autistic and nonautistic children. Ann Neurol 1999;45:287-295.
43. Gould GG, Hensler JG, Burke TF, et al. Density and function of central serotonin (5-HT) transporters, 5-HT1A and 5-HT2A receptors, and effects of their targeting on BTBR T+tf/J mouse social behavior. J Neurochem 2011;116:291-303.
44. Pagnamenta AT, Wing K, Sadighi Akha E, et al. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 2009;17:687-692.
45. Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009;459: 528-533.
46. Schwab SG, Eckstein GN, Hallmayer J, et al. Evidence suggestive of a locus on chromosome 5q31 contributing to susceptibility for schizophrenia in German and Israeli families by multipoint affected sib-pair linkage analysis. Mol Psychiatry 1997;2:156-160.
47. Pedrosa E, Stefanescu R, Margolis B, et al. Analysis of protocad- herin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia. Schizophr Res 2008;102:210-219.