Constitutional downregulation of SEMA5A expression in autism

Neuropsychobiology

Volumn 54, Issue 1, 2006, Pages 64-69

  Melin, M ^a   Carlsson, B ^a   Anckarsater, H ^b   Rastam, M ^b   Betancur, C ^c   Isaksson, A ^a   Gillberg, C ^b   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

Author keywords

Autistic disorder; cDNA microarrays; Chromosome 7q31; Gene expression; SEMA5A

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; SEMAPHORIN; SEMAPHORIN 5A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTISM; B LYMPHOCYTE; BIOLOGICAL ACTIVITY; BRAIN FUNCTION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA MICROARRAY; DOWN REGULATION; EPSTEIN BARR VIRUS; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; IMMUNE SYSTEM; LYMPHOCYTE TRANSFORMATION; MALE; NERVE FIBER; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SAMPLE; VIRUS CELL TRANSFORMATION;

ADOLESCENT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; DOWN-REGULATION; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 33750687891     PISSN: 0302282X     EISSN: None     Source Type: Journal    
DOI: 10.1159/000096040     Document Type: Article

References (42)

1. Fombonne E: Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 2003;33:365-382.
2. Kanner L: Autistic disturbances of affective contact. Nervous Child 1943;2:217-250.
3. Folstein S, Rutter M: Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977;18:297-321.
4. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M: A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 1989;30:405-416.
5. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995;25:63-77.
6. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, Rutter M: Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995;57:717-726.
7. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M: Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 1999;8:805-812.
8. International Molecular Genetic Study of Autism Consortium: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998;7:571-578.
9. International Molecular Genetic Study of Autism Consortium: A genome wide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001;69:570-581.
10. Collaborative Linkage Study of Autism: An autosomal genomic screen for autism. Am J Med Genet 2001;105:609-615.
11. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Myers R, et al: A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999;65:493-507.
12. Gillberg C: Chromosomal disorders and autism. J Autism Dev Disord 1998;28:415-425.
13. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003;34:27-29.
14. Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briault S: X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004;74:552-557.
15. 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.
16. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, ed 4. Washington, American Psychiatric Press, 1994.
17. Ihaka R, Gentleman R: A language for data analysis and graphics. J Comput Graph Stat 1996;5:299-315.
18. Goss Tuscher V, Tibshirani R, Chu G: Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci 2001;98:5116-5121.
19. Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J: Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology 2001;57:1618-1628.
20. Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray IC, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson JA, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel KP, Voegeling S, Guenet JL, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher EM, Martin J, Rastan S, Brown SD, Hunter J: A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet 2000;25:440-443.
21. Adams RH, Betz H, Puschel AW: A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis. Mech Dev 1996;57:33-45.
22. Skaliora I, Singer W, Betz H, Puschel AW: Differential patterns of semaphorin expression in the developing rat brain. Eur J Neurosci 1998;10:1215-1229.
23. Kantor DB, Chivatakarn O, Peer KL, Oster SF, Inatani M, Hansen MJ, Flanagan JG, Yamaguchi Y, Sretavan DW, Giger RJ, Kolodkin AL: Semaphorin 5A is a bifunctional axon guidance cue regulated by heparan and chondroitin sulfate proteoglycans. Neuron 2004;44:961-975.
24. Oster SF, Bodeker MO, He FSretavan DW: Invariant Sema5A inhibition serves an ensheathing function during optic nerve development. Development 2003;130:775-784.
25. Jones L, Lopez-Bendito G, Gruss P, Stoykova A, Molnar Z: Pax6 is required for the normal development of the forebrain axonal connections. Development 2002;129:5041-5052.
26. Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M: Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Biochem Biophys Res Commun 1998;242:685-691.
27. Asea A, Kraeft SK, Kurt-Jones EA, Stevenson MA, Chen LB, Finberg RW, Koo GC, Calderwood SK: HSP70 stimulates cytokine production through a CD14-dependant pathway, demonstrating its dual role as a chaperone and cytokine. Nat Med 2000;6:435-442.
28. Millar DG, Garza KM, Odermatt B, Elford AR, Ono N, Li Z, Ohashi PS: Hsp70 promotes antigen-presenting cell function and converts T-cell tolerance to autoimmunity in vivo. Nat Med 2003;9:1469-1476.
29. Mycko MP, Cwiklinska H, Szymanski J, Szymanska B, Kudla G, Kilianek L, Odyniec A, Brosnan CF, Selmaj KW: Inducible heat shock protein 70 promotes myelin autoantigen presentation by the HLA class II. J Immunol 2004;172:202-213.
30. Bernal JNunez J: Thyroid hormones and brain development. Eur J Endocrinol 1995;133:390-398.
31. Poguet AL, Legrand C, Feng X, Yen PM, Meltzer P, Samarut J, Flamant F: Microarray analysis of knockout mice identifies cyclin D2 as a possible mediator for the action of thyroid hormone during the postnatal development of the cerebellum. Dev Biol 2003;254:188-199.
32. Huard JM, Forster CC, Carter ML, Sicinski P, Ross ME: Cerebellar histogenesis is disturbed in mice lacking cyclin D2. Development 1999;126:1927-1935.
33. Ingi T, Worley PF, Lanahan AA: Regulation of SSAT expression by synaptic activity. Eur J Neurosci 2001;13:1459-1463.
34. Kaasinen SK, Oksman M, Alhonen L, Tanila H, Janne J: Spermidine/spermine N1-acetyltransferase overexpression in mice induces hypoactivity and spatial learning impairment. Pharmacol Biochem Behav 2004;78:35-45.
35. Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW: Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 2000;67:510-514.
36. Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC: Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 2001;105:406-413.
37. Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW: Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics 2001;78:7-11.
38. Persico AM, D'Agruma L, Maiorano N, Totaro A, Militerni R, Bravaccio C, Wassink TH, Schneider C, Melmed R, Trillo S, Montecchi F, Palermo M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Conciatori M, Marino R, Quattrocchi CC, Baldi A, Zelante L, Gasparini P, Keller F: Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 2001;6:150-159.
39. Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr., Fang Y, Song CY, Vitale R: Association between a GABRB3 polymorphism and autism. Mol Psychiatry 2002;7:311-316.
40. Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E: Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 1998;62:1077-1083.
41. Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, Ravan SA, Elston L, Decena K, Donnelly SL, Abramson RK, Wright HH, DeLong GR, Gilbert JR, Pericak-Vance MA: Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003;72:539-548.
42. Schopler E, Reichler RJ, Renner BR: The Childhood Autism Rating Scale (CARS) for Diagnostic Screening and Classification of Autism. New York, Irvington, 1986.