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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Exons


Psychiatry related information on Exons

  • The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response [6].
  • We used reverse transcription-polymerase chain reaction, denaturing gradient gel electrophoresis, and direct DNA sequencing to analyze amyloid precursor protein exons 16 and 17 from postmortem cerebellar samples from patients with histologically confirmed Alzheimer's disease and control subjects [7].
  • We decided to investigate if these and any other mutations in exons 3 and 4 of the alpha-synuclein gene could be detected in sixty two sporadic PD and dementia with Lewy bodies (DLB) patients [8].
  • In order to investigate the time-course of the BDNF response and to examine how physical activity preferentially activates particular transcriptional pathways, the effects of 6 and 12 h of voluntary wheel running on BDNF and exons I-IV mRNA expression were investigated in rats [9].
  • Huntington's disease (HD) is caused by CAG repeat expansion in exon 1 of a large gene, IT15, possessing 67 exons [10].

High impact information on Exons

  • Both of the major isoforms of IL-1Ra are transcribed from the same gene through the use of alternative first exons [11].
  • Importantly, known mechanisms that ensure the mutually exclusive splicing of pairs of exons cannot explain this phenomenon in Dscam [12].
  • We used a stringent algorithm to identify 591 exons that were differentially spliced in the brain relative to immune tissues, and 6.6% of these showed major splicing defects in the neocortex of Nova2-/- mice [13].
  • The allelic and combinatorial expression of distinct variable exons of the Pcdha genes is a potential mechanism for specifying neuron identity in the brain [14].
  • We tested 49 exons with the largest predicted Nova-dependent splicing changes and validated all 49 by RT-PCR [13].

Chemical compound and disease context of Exons


Biological context of Exons


Anatomical context of Exons

  • Here we find that the gad mutation is caused by an in-frame deletion including exons 7 and 8 of Uchl1, encoding the ubiquitin carboxy-terminal hydrolase (UCH) isozyme (Uch-l1) selectively expressed in the nervous system and testis [25].
  • Six months after the final myoblast transfer, the presence of dystrophin was assessed with the use of peptide antibodies specific to the deleted exons of the dystrophin gene [26].
  • T lymphocytes express multiple forms of the leukocyte common antigen CD45, transcribed by alternative usage of leukocyte-common antigen exons 4-6 [27].
  • SR proteins bind to exons and recruit the spliceosome via protein interactions mediated by an arginine-serine-rich (RS) domain [28].
  • The cDNA encoding this antigen is composed of a partially spliced form of the melanocyte differentiation antigen tyrosinase-related protein (TRP)-2, containing exons 1-4 with retention of intron 2 and part of intron 4 (TRP-2-INT2) [29].

Associations of Exons with chemical compounds

  • Tandem repetition of the 5' mini-exon of variant surface glycoprotein genes: a multiple promoter for VSG gene transcription [30]?
  • The sequences within these exons vary except for th glycine codons, which occur every third triplet [31].
  • Multiple genes and alternative exons were excluded as sources for the arginine codon; hence, we propose that transcripts for three subunits are altered by RNA editing [32].
  • All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons [33].
  • Two other products, the spliced exons and the broken form of the lariat, were also characterized [34].

Gene context of Exons

  • The BRCA2 coding sequence is huge, composed of 26 exons that span 10,443 bp [35].
  • Because the mutations in the remainder of the XLRP patients may reside in undiscovered exons of RPGR, we sequenced a 172-kb region containing the entire gene [36].
  • The breakpoints occur near the 5' and 3' ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS [37].
  • The ftz gene consists of two exons, and it is the 3' exon that cross-hybridizes with the 3' exon of Antp [38].
  • We show here that a 0.9-kb deletion of exon 1 of mouse Snrpn did not disrupt imprinting or elicit any obvious phenotype, although it did allow the detection of previously unknown upstream exons [39].

Analytical, diagnostic and therapeutic context of Exons

  • Sequence analysis indicates that the Y-chromosomal DAZ cluster arose during primate evolution by (i) transposing the autosomal gene to the Y, (ii) amplifying and pruning exons within the transposed gene and (iii) amplifying the modified gene [40].
  • In the second stage, cleavage at the 3' splice site and ligation of the exons occurs, resulting in the excision of the intact intron [41].
  • Molecular cloning and nucleotide sequence analysis revealed two putative exons whose predicted amino acid sequence was most homologous to the corresponding sequences of c-abl and v-abl but was related to other tyrosine kinase genes as well [42].
  • Homozygous mutant mice in which exons 10 and 11 of the Brca2 gene were deleted by gene targeting (Brca2(10-11)) die before day 9.5 of embryogenesis [43].
  • Exactly 27 of the remaining fifth exons could encode a domain that is similar to those of the transplantation antigens in that it consists of a proline-rich connecting peptide, a transmembrane segment, and a cytoplasmic portion with membrane-anchoring basic residues [44].


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  12. Mutually exclusive splicing of the insect Dscam pre-mRNA directed by competing intronic RNA secondary structures. Graveley, B.R. Cell (2005) [Pubmed]
  13. Nova regulates brain-specific splicing to shape the synapse. Ule, J., Ule, A., Spencer, J., Williams, A., Hu, J.S., Cline, M., Wang, H., Clark, T., Fraser, C., Ruggiu, M., Zeeberg, B.R., Kane, D., Weinstein, J.N., Blume, J., Darnell, R.B. Nat. Genet. (2005) [Pubmed]
  14. Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons. Esumi, S., Kakazu, N., Taguchi, Y., Hirayama, T., Sasaki, A., Hirabayashi, T., Koide, T., Kitsukawa, T., Hamada, S., Yagi, T. Nat. Genet. (2005) [Pubmed]
  15. Benzo[a]pyrene-induced murine skin tumors exhibit frequent and characteristic G to T mutations in the p53 gene. Ruggeri, B., DiRado, M., Zhang, S.Y., Bauer, B., Goodrow, T., Klein-Szanto, A.J. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  16. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Verpy, E., Biasotto, M., Brai, M., Misiano, G., Meo, T., Tosi, M. Am. J. Hum. Genet. (1996) [Pubmed]
  17. Mutations of the epidermal growth factor receptor gene in lung cancer: biological and clinical implications. Kosaka, T., Yatabe, Y., Endoh, H., Kuwano, H., Takahashi, T., Mitsudomi, T. Cancer Res. (2004) [Pubmed]
  18. Point mutations and deletions in the znfn1a1/ikaros gene in chemically induced murine lymphomas. Karlsson, A., Söderkvist, P., Zhuang, S.M. Cancer Res. (2002) [Pubmed]
  19. Identification of cell type-dependent enhancer core element located in the 3'-downstream region of the human angiotensinogen gene. Nibu, Y., Takahashi, S., Tanimoto, K., Murakami, K., Fukamizu, A. J. Biol. Chem. (1994) [Pubmed]
  20. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nickerson, D.A., Taylor, S.L., Weiss, K.M., Clark, A.G., Hutchinson, R.G., Stengård, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., Sing, C.F. Nat. Genet. (1998) [Pubmed]
  21. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Geissler, W.M., Davis, D.L., Wu, L., Bradshaw, K.D., Patel, S., Mendonca, B.B., Elliston, K.O., Wilson, J.D., Russell, D.W., Andersson, S. Nat. Genet. (1994) [Pubmed]
  22. Mutually exclusive splicing of alpha-tropomyosin exons enforced by an unusual lariat branch point location: implications for constitutive splicing. Smith, C.W., Nadal-Ginard, B. Cell (1989) [Pubmed]
  23. Nucleotide sequence analysis identifies the human c-sis proto-oncogene as a structural gene for platelet-derived growth factor. Chiu, I.M., Reddy, E.P., Givol, D., Robbins, K.C., Tronick, S.R., Aaronson, S.A. Cell (1984) [Pubmed]
  24. A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas. Hann, S.R., King, M.W., Bentley, D.L., Anderson, C.W., Eisenman, R.N. Cell (1988) [Pubmed]
  25. Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. Saigoh, K., Wang, Y.L., Suh, J.G., Yamanishi, T., Sakai, Y., Kiyosawa, H., Harada, T., Ichihara, N., Wakana, S., Kikuchi, T., Wada, K. Nat. Genet. (1999) [Pubmed]
  26. Myoblast transfer in the treatment of Duchenne's muscular dystrophy. Mendell, J.R., Kissel, J.T., Amato, A.A., King, W., Signore, L., Prior, T.W., Sahenk, Z., Benson, S., McAndrew, P.E., Rice, R. N. Engl. J. Med. (1995) [Pubmed]
  27. Interconversion of CD45R subsets of CD4 T cells in vivo. Bell, E.B., Sparshott, S.M. Nature (1990) [Pubmed]
  28. A protein interaction domain contacts RNA in the prespliceosome. Graveley, B.R. Mol. Cell (2004) [Pubmed]
  29. Translation of a retained intron in tyrosinase-related protein (TRP) 2 mRNA generates a new cytotoxic T lymphocyte (CTL)-defined and shared human melanoma antigen not expressed in normal cells of the melanocytic lineage. Lupetti, R., Pisarra, P., Verrecchia, A., Farina, C., Nicolini, G., Anichini, A., Bordignon, C., Sensi, M., Parmiani, G., Traversari, C. J. Exp. Med. (1998) [Pubmed]
  30. Tandem repetition of the 5' mini-exon of variant surface glycoprotein genes: a multiple promoter for VSG gene transcription? De Lange, T., Liu, A.Y., Van der Ploeg, L.H., Borst, P., Tromp, M.C., Van Boom, J.H. Cell (1983) [Pubmed]
  31. The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp. Yamada, Y., Avvedimento, V.E., Mudryj, M., Ohkubo, H., Vogeli, G., Irani, M., Pastan, I., de Crombrugghe, B. Cell (1980) [Pubmed]
  32. RNA editing in brain controls a determinant of ion flow in glutamate-gated channels. Sommer, B., Köhler, M., Sprengel, R., Seeburg, P.H. Cell (1991) [Pubmed]
  33. Association between early-onset Parkinson's disease and mutations in the parkin gene. Lücking, C.B., Dürr, A., Bonifati, V., Vaughan, J., De Michele, G., Gasser, T., Harhangi, B.S., Meco, G., Denèfle, P., Wood, N.W., Agid, Y., Brice, A. N. Engl. J. Med. (2000) [Pubmed]
  34. A self-splicing RNA excises an intron lariat. Peebles, C.L., Perlman, P.S., Mecklenburg, K.L., Petrillo, M.L., Tabor, J.H., Jarrell, K.A., Cheng, H.L. Cell (1986) [Pubmed]
  35. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Teng, D.H., Bogden, R., Mitchell, J., Baumgard, M., Bell, R., Berry, S., Davis, T., Ha, P.C., Kehrer, R., Jammulapati, S., Chen, Q., Offit, K., Skolnick, M.H., Tavtigian, S.V., Jhanwar, S., Swedlund, B., Wong, A.K., Kamb, A. Nat. Genet. (1996) [Pubmed]
  36. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Vervoort, R., Lennon, A., Bird, A.C., Tulloch, B., Axton, R., Miano, M.G., Meindl, A., Meitinger, T., Ciccodicola, A., Wright, A.F. Nat. Genet. (2000) [Pubmed]
  37. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Pilia, G., Hughes-Benzie, R.M., MacKenzie, A., Baybayan, P., Chen, E.Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. Nat. Genet. (1996) [Pubmed]
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  39. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Bressler, J., Tsai, T.F., Wu, M.Y., Tsai, S.F., Ramirez, M.A., Armstrong, D., Beaudet, A.L. Nat. Genet. (2001) [Pubmed]
  40. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Saxena, R., Brown, L.G., Hawkins, T., Alagappan, R.K., Skaletsky, H., Reeve, M.P., Reijo, R., Rozen, S., Dinulos, M.B., Disteche, C.M., Page, D.C. Nat. Genet. (1996) [Pubmed]
  41. Role of the 3' splice site consensus sequence in mammalian pre-mRNA splicing. Ruskin, B., Green, M.R. Nature (1985) [Pubmed]
  42. A novel human gene closely related to the abl proto-oncogene. Kruh, G.D., King, C.R., Kraus, M.H., Popescu, N.C., Amsbaugh, S.C., McBride, W.O., Aaronson, S.A. Science (1986) [Pubmed]
  43. Brca2 is required for embryonic cellular proliferation in the mouse. Suzuki, A., de la Pompa, J.L., Hakem, R., Elia, A., Yoshida, R., Mo, R., Nishina, H., Chuang, T., Wakeham, A., Itie, A., Koo, W., Billia, P., Ho, A., Fukumoto, M., Hui, C.C., Mak, T.W. Genes Dev. (1997) [Pubmed]
  44. Comparison of exon 5 sequences from 35 class I genes of the BALB/c mouse. Brorson, K.A., Hunt, S.W., Hunkapiller, T., Sun, Y.H., Cheroutre, H., Nickerson, D.A., Hood, L. J. Exp. Med. (1989) [Pubmed]
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