Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

PLoS Genetics

Volumn 9, Issue 1, 2013, Pages

  Oksenberg, Nir ^a   Stevison, Laurie ^a   Wall, Jeffrey D ^a,b   Ahituv, Nadav ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTISM; AUTS2 GENE; BRAIN DEVELOPMENT; CELL MOTILITY; CELL SIZE; CONTROLLED STUDY; DNA SEQUENCE; EMBRYO; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC CONSERVATION; MOUSE; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; ZEBRA FISH;

ANIMALS; AUTISTIC DISORDER; BASE SEQUENCE; BIOLOGICAL EVOLUTION; ENHANCER ELEMENTS, GENETIC; GENOMICS; HEAD; HUMANS; MICE; NEANDERTHALS; NEURONS; PHENOTYPE; PROTEINS; ZEBRAFISH;

EID: 84873506311     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003221     Document Type: Article

References (52)

1. Baio J, (2012) Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. Centers for Disease Control and Prevention MMWR Surveillance Summaries 61.
2. Pardo Ca, Eberhart CG, (2007) The neurobiology of autism. Brain Pathol 17: 434-447.
3. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, et al. (1999) A Genomic Screen of Autism: Evidence for a Multilocus Etiology. Amer J Hum Genet 65: 931.
4. Sultana R, Yu C-E, Yu J, Munson J, Chen D, et al. (2002) Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins. Genomics 80: 129-134.
5. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372.
6. Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, et al. (2007) Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 121: 501-509.
7. Bakkaloglu B, Roak BJO, Louvi A, Gupta AR, Abelson JF, et al. (2008) Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. Amer J Hum Genet pp. 165-173 doi:10.1016/j.ajhg.2007.09.017.
8. Huang X-L, Zou YS, Maher T a, Newton S, Milunsky JM, (2010) A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A 152A: 2112-2114.
9. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
10. Ben-David E, Granot-Hershkovitz E, Monderer-Rothkoff G, Lerer E, Levi S, et al. (2011) Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Hum Mol Genet 20: 3632-3641.
11. Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, et al. (2011) Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes. PLoS Genet 7: e1002334 doi:10.1371/journal.pgen.1002334.
12. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, et al. (2012) Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries. Cell 149: 525-537.
13. Nagamani SCS, Erez A, Ben-Zeev B, Frydman M, Winter S, et al. (2012) Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet pp. 1-4.
14. Elia J, Gai X, Xie HM, Perin JC, Geiger E, et al. (2010) Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15: 637-646.
15. Mefford HC, Muhle H, Ostertag P, Von Spiczak S, Buysse K, et al. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6: e1000962 doi:10.1371/journal.pgen.1000962.
16. Schumann G, Coin LJ, Lourdusamy A, Charoen P, Berger KH, et al. (2011) Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A 108: 7119-7124.
17. Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, et al. (2010) A draft sequence of the Neandertal genome. Science 328: 710-722.
18. Pollard KS, Salama SR, King B, Kern AD, Dreszer T, et al. (2006) Forces shaping the fastest evolving regions in the human genome. PLoS Genet 2: e168 doi:10.1371/journal.pgen.0020168.
19. Prabhakar S, Noonan JP, Pääbo S, Rubin EM, (2006) Accelerated evolution of conserved noncoding sequences in humans. Science 314: 786.
20. Zhang YE, Landback P, Vibranovski MD, Long M, (2011) Accelerated Recruitment of New Brain Development Genes into the Human Genome. PLoS Biol 9: e1001179 doi:10.1371/journal.pbio.1001179.
21. Visel A, Thaller C, Eichele G, (2004) GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res 32: D552-6.
22. Bedogni F, Hodge RD, Nelson BR, Frederick E a, Shiba N, et al. (2010) Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Gene Expr Patterns 10: 9-15.
23. Bedogni F, Hodge RD, Elsen GE, Nelson BR, Daza R a M, et al. (2010) Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc Natl Acad Sci U S A 107: 13129-13134.
24. Hevner RF, Shi L, Justice N, Hsueh Y, Sheng M, et al. (2001) Tbr1 regulates differentiation of the preplate and layer 6. Neuron 29: 353-366.
25. Fatemi SH, Snow AV, Stary JM, Araghi-Niknam M, Reutiman TJ, et al. (2005) Reelin signaling is impaired in autism. Biol Psychiatry 57: 777-787.
26. Tropepe V, Sive HL, (2003) Can zebrafish be used as a model to study the neurodevelopmental causes of autism? Genes Brain Behav pp. 268-281 doi:10.1046/j.1601-183X.2003.00038.x.
27. Park HC, Kim CH, Bae YK, Yeo SY, Kim SH, et al. (2000) Analysis of upstream elements in the HuC promoter leads to the establishment of transgenic zebrafish with fluorescent neurons. Dev Biol 227: 279-293.
28. Evan G, Littlewood T, (1998) A Matter of Life and Cell Death. Science 281: 1317-1322.
29. Alenzi FQB, (2004) Links between apoptosis, proliferation and the cell cycle. Br J Biomed Sci 61: 99-102.
30. Flanagan-Steet H, Fox M a, Meyer D, Sanes JR, (2005) Neuromuscular synapses can form in vivo by incorporation of initially aneural postsynaptic specializations. Development 132: 4471-4481.
31. Gordon LR, Gribble KD, Syrett CM, Granato M, (2012) Initiation of synapse formation by Wnt-induced MuSK endocytosis. Development 139: 1023-1033.
32. Visel A, Blow MJ, Li Z, Zhang T, Akiyama Ja, et al. (2009) ChIP-seq accurately predicts tissue-specific activity of enhancers. Nature 457: 854-858.
33. Li Q, Ritter D, Yang N, Dong Z, Li H, et al. (2010) A systematic approach to identify functional motifs within vertebrate developmental enhancers. Dev Biol 337: 484-495.
34. Visel A, Minovitsky S, Dubchak I, Pennacchio L a, (2007) VISTA Enhancer Browser-a database of tissue-specific human enhancers. Nucleic Acids Res 35: D88-92.
35. Luciano M, Hansell NK, Lahti J, Davies G, Medland SE, (2012) UKPMC Funders Group Whole genome association scan for genetic polymorphisms influencing information processing speed. Biol Psychol 86: 193-202 doi:10.1016/j.biopsycho.2010.11.008.Whole.
36. Fullwood MJ, Liu MH, Pan YF, Liu J, Han X, et al. (2010) NIH Public Access. Nature 462: 58-64 doi:10.1038/nature08497.An.
37. Lieberman-Aiden E, Van Berkum NL, Williams L, Imakaev M, Ragoczy T, et al. (2009) Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science 326: 289-293.
38. Navratilova P, Fredman D, Hawkins T a, Turner K, Lenhard B, et al. (2009) Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes. Dev Biol 327: 526-540.
39. Mcgaughey DM, Vinton RM, Huynh J, Al-saif A, Beer MA, et al. (2008) Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res 18: 252-260 doi:10.1101/gr.6929408.1.
40. Fisher S, Grice Ea, Vinton RM, Bessling SL, McCallion AS, (2006) Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science 312: 276-279.
41. Poot M, Smagt JJ Van Der, Brilstra EH, Bourgeron T (2011) Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia. Cytogenet Genome Res. doi:10.1159/000334064.
42. White RM, Sessa A, Burke C, Bowman T, LeBlanc J, et al. (2008) Transparent adult zebrafish as a tool for in vivo transplantation analysis. Cell stem cell 2: 183-189.
43. Thisse B, Heyer V, Lux A, Alunni V, Degrave A, et al. (2004) Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening. Methods Cell Biol 77: 505-519.
44. Nasevicius a, Ekker SC, (2000) Effective targeted gene "knockdown" in zebrafish. Nat Genet 26: 216-220.
45. Holder N, Hill J, (1991) Retinoic acid modifies development of the midbrain-hindbrain border and affects cranial ganglion formation in zebrafish embryos. Development (Cambridge, England) 113: 1159-1170.
46. Westerfield M (2007) The Zebrafish Book. 5th ed. Eugene, Oregon: University of Oregon Press.
47. Pennacchio La, Ahituv N, Moses AM, Prabhakar S, Nobrega Ma, et al. (2006) In vivo enhancer analysis of human conserved non-coding sequences. Nature 444: 499-502.
48. Nusslein-Volhard C and RD(2002) Zebrafish. Oxford: Oxford University Press.
49. Kawakami K, (2005) Transposon tools and methods in zebrafish. Dev Dyn 234: 244-254 Av.
50. Kothary R, Clapoff S, Brown A, Campbell R, (1988) PA& RJ (1988) A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature 335: 435-437.
51. Nagy A., Gertsenstein M., Vintersten K BR (2003) Manipulating the Mouse Embryo: A Laboratory Manual (Third Edition). Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
52. Pruitt KD, Tatusova T, Maglott DR, (2005) NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 33: D501-4.