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International Journal of Genomics
Volume 2017, Article ID 4798474, 11 pages
https://doi.org/10.1155/2017/4798474
Research Article

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avenida de Fernando Abril Martorell 106, 46026 Valencia, Spain

Correspondence should be addressed to Francisco Martínez; se.avg@ocsicnarf

Received 23 November 2016; Revised 7 March 2017; Accepted 4 April 2017; Published 24 May 2017

Academic Editor: Mohamed Salem

Copyright © 2017 Sonia Mayo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. F. J. Kaye, “Mutation-associated fusion cancer genes in solid tumors,” Molecular Cancer Therapeutics, vol. 8, no. 6, pp. 1399–1408, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. S. A. Tomlins, D. R. Rhodes, S. Perner et al., “Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer,” Science, vol. 310, no. 5748, pp. 644–648, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. M. Yoshimoto, A. M. Joshua, S. Chilton-Macneill et al., “Three-color FISH analysis of TMPRSS2/ERG fusions in prostate cancer indicates that genomic microdeletion of chromosome 21 is associated with rearrangement,” Neoplasia, vol. 8, no. 6, pp. 465–469, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. D. T. Jones, S. Kocialkowski, L. Liu et al., “Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas,” Cancer Research, vol. 68, no. 21, pp. 8673–8677, 2008. View at Publisher · View at Google Scholar · View at Scopus
  5. H. G. Nothwang, H. G. Kim, J. Aoki et al., “Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain,” Human Molecular Genetics, vol. 10, no. 8, pp. 797–806, 2001. View at Publisher · View at Google Scholar
  6. M. B. Ramocki, J. Dowling, I. Grinberg et al., “Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32,” European Journal of Human Genetics, vol. 11, no. 7, pp. 527–534, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. L. Backx, E. Seuntjens, K. Devriendt, J. Vermeesch, and H. Van Esch, “A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum,” Cytogenetic and Genome Research, vol. 132, no. 3, pp. 135–143, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. M. Moysés-Oliveira, R. S. Guilherme, V. A. Meloni et al., “X-linked intellectual disability related genes disrupted by balanced X-autosome translocations,” American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, vol. 168, no. 8, pp. 669–677, 2015. View at Publisher · View at Google Scholar · View at Scopus
  9. K. Hackmann, S. Matko, E. M. Gerlach et al., “Partial deletion of GLRB and GRIA2 in a patient with intellectual disability,” European Journal of Human Genetics, vol. 21, no. 1, pp. 112–114, 2013. View at Publisher · View at Google Scholar · View at Scopus
  10. A. C. Chinault and J. Carbon, “Overlap hybridization screening: isolation and characterization of overlapping DNA fragments surrounding the leu2 gene on yeast chromosome III,” Gene, vol. 5, no. 2, pp. 111–126, 1979. View at Publisher · View at Google Scholar · View at Scopus
  11. A. Rearden, “A new LIM protein containing an autoepitope homologous to “senescent cell antigen”,” Biochemical and Biophysical Research Communications, vol. 201, no. 3, pp. 1124–1131, 1994. View at Publisher · View at Google Scholar · View at Scopus
  12. C. Wu, “The PINCH-ILK-parvin complexes: assembly, functions and regulation,” Biochimica et Biophysica Acta, vol. 1692, no. 2-3, pp. 55–62, 2004. View at Publisher · View at Google Scholar · View at Scopus
  13. F. Li, Y. Zhang, and C. Wu, “Integrin-linked kinase is localized to cell–matrix focal adhesions but not cell-cell adhesion sites and the focal adhesion localization of integrin-linked kinase is regulated by the PINCH-binding ANK repeats,” Journal of Cell Science, vol. 112, Part 24, pp. 4589–4599, 1999. View at Google Scholar
  14. C. Wu, “Integrin-linked kinase and PINCH: partners in regulation of cell–extracellular matrix interaction and signal transduction,” Journal of Cell Science, vol. 112, Part 24, pp. 4485–4489, 1999. View at Google Scholar
  15. S. Li, R. Bordoy, F. Stanchi et al., “PINCH1 regulates cell–matrix and cell-cell adhesions, cell polarity and cell survival during the peri-implantation stage,” Journal of Cell Science, vol. 118, Part 13, pp. 2913–2921, 2005. View at Publisher · View at Google Scholar · View at Scopus
  16. A. Jatiani, P. Pannizzo, E. Gualco, L. Del-Valle, and D. Langford, “Neuronal PINCH is regulated by TNF-α and is required for neurite extension,” Journal of Neuroimmune Pharmacology, vol. 6, no. 3, pp. 330–340, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. N. Yokoyama, N. Hayashi, T. Seki et al., “A giant nucleopore protein that binds ran/TC4,” Nature, vol. 376, no. 6536, pp. 184–188, 1995. View at Publisher · View at Google Scholar · View at Scopus
  18. A. Pichler, A. Gast, J. S. Seeler, A. Dejean, and F. Melchior, “The nucleoporin RanBP2 has SUMO1 E3 ligase activity,” Cell, vol. 108, no. 1, pp. 109–120, 2002. View at Publisher · View at Google Scholar · View at Scopus
  19. Y. Cai, B. B. Singh, A. Aslanukov, H. Zhao, and P. A. Ferreira, “The docking of kinesins, KIF5B and KIF5C, to ran-binding protein 2 (RanBP2) is mediated via a novel RanBP2 domain,” The Journal of Biological Chemistry, vol. 276, no. 45, pp. 41594–41602, 2001. View at Publisher · View at Google Scholar · View at Scopus
  20. A. Aslanukov, R. Bhowmick, M. Guruju et al., “RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism,” PLoS Genetics, vol. 2, no. 10, article e177, 2006. View at Publisher · View at Google Scholar · View at Scopus
  21. K. I. Cho, Y. Cai, H. Yi, A. Yeh, A. Aslanukov, and P. A. Ferreira, “Association of the kinesin binding domain of RanBP2 to KIF5B and KIF5C determines mitochondria localization and function,” Traffic, vol. 8, no. 12, pp. 1722–1735, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. M. M. Dawlaty, L. Malureanu, K. B. Jeganathan, E. Kao, and C. Sustmann, “Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase IIalpha,” Cell, vol. 133, no. 1, pp. 103–115, 2008. View at Publisher · View at Google Scholar · View at Scopus
  23. D. E. Neilson, R. M. Eiben, S. Waniewski et al., “Autosomal dominant acute necrotizing encephalopathy,” Neurology, vol. 61, no. 2, pp. 226–230, 2003. View at Publisher · View at Google Scholar
  24. D. E. Neilson, M. D. Adams, O. CMD et al., “Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2,” American Journal of Human Genetics, vol. 84, no. 1, pp. 44–51, 2009. View at Publisher · View at Google Scholar · View at Scopus
  25. D. Wilsker, A. Patsialou, P. B. Dallas, and E. Moran, “ARID proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation and development,” Cell Growth & Differentiation, vol. 13, no. 3, pp. 95–106, 2002. View at Google Scholar
  26. Y. Tsurusaki, N. Okamoto, H. Ohashi et al., “Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome,” Nature Genetics, vol. 44, no. 4, pp. 376–378, 2012. View at Publisher · View at Google Scholar · View at Scopus
  27. G. W. Santen, E. Aten, Y. Sun et al., “Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome,” Nature Genetics, vol. 44, no. 4, pp. 379-380, 2012. View at Publisher · View at Google Scholar · View at Scopus
  28. G. W. Santen, J. Clayton-Smith, and ARID1B-CSS consortium, “The ARID1B phenotype: what we have learned so far,” American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 166C, no. 3, pp. 276–289, 2014. View at Publisher · View at Google Scholar · View at Scopus
  29. M. Bucan, B. S. Abrahams, K. Wang et al., “Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes,” PLoS Genetics, vol. 5, no. 6, article e1000536, 2009. View at Publisher · View at Google Scholar · View at Scopus
  30. D. Pinto, A. T. Pagnamenta, L. Klei et al., “Functional impact of global rare copy number variation in autism spectrum disorders,” Nature, vol. 466, no. 7304, pp. 368–372, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. A. Bailey, A. Le Couteur, I. Gottesman et al., “Autism as a strongly genetic disorder: evidence from a British twin study,” Psychological Medicine, vol. 25, no. 1, pp. 63–77, 1995. View at Google Scholar
  32. R. Holt, N. H. Sykes, I. C. Conceição et al., “CNVs leading to fusion transcripts in individuals with autism spectrum disorder,” European Journal of Human Genetics, vol. 20, no. 11, pp. 1141–1147, 2012. View at Publisher · View at Google Scholar · View at Scopus
  33. H. C. Cheung, S. A. Yatsenko, M. Kadapakkam et al., “Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma,” Pediatric Blood & Cancer, vol. 58, no. 5, pp. 801–805, 2012. View at Publisher · View at Google Scholar · View at Scopus
  34. J. Oliveira, M. E. Oliveira, W. Kress et al., “Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database,” European Journal of Human Genetics, vol. 21, no. 5, pp. 540–549, 2013. View at Publisher · View at Google Scholar · View at Scopus