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

Sequence Deletion

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Disease relevance of Sequence Deletion

  • To understand the role of the 23-amino acid signal sequence in the folding and stability of beta-lactamase, the precursor and a mutant beta-lactamase with a 19-amino acid signal sequence deletion were synthesized in vitro using an Escherichia coli cell-free coupled transcription/translation system [1].

High impact information on Sequence Deletion

  • However, we did identify the 21-bp MEF2A coding sequence deletion originally implicated in adCAD1 in 1 of 300 elderly control subjects without CAD [2].
  • Experiments with antibody competition and sequence deletion indicated that His657-Lys676 of FAD-APP, which has been specified as the ligand-dependent GO-coupling domain of normal APP, was responsible for this constitutive activation, confirming that the three FAD-APPs are mutationally activated APP695 [3].
  • Variant forms of VA RNAI with sequence deletions and substitutions bind to the La antigen, suggesting that the recognition site includes the RNA termini or the sequences corresponding to the internal control region (promoter), or both [4].
  • We provide here the genetic and biochemical evidence to show that BRCA1 promotes error-free rejoining of DSBs in human breast carcinoma cells while suppressing microhomology-mediated error-prone end-joining and restricting sequence deletion at the break junction during repair [5].
  • A model for the development of sequence deletions in the ermC translational attenuator by homologous recombination is presented and experimentally tested by in vitro selection of constitutively expressed mutants in staphylococcal strains deficient and proficient in homologous recombination [6].

Biological context of Sequence Deletion


Associations of Sequence Deletion with chemical compounds

  • In fact, the selective excision of the arginine residue occurred subsequent to signal sequence deletion by an aminopeptidase which was sensitive to the metal chelator o-phenanthroline [12].

Gene context of Sequence Deletion


Analytical, diagnostic and therapeutic context of Sequence Deletion


  1. Reactivation of thermally inactivated pre-beta-lactamase by DnaK, DnaJ, and GrpE. McCarthy, D., Kramer, G., Hardesty, B. Protein Sci. (1998) [Pubmed]
  2. Lack of MEF2A mutations in coronary artery disease. Weng, L., Kavaslar, N., Ustaszewska, A., Doelle, H., Schackwitz, W., Hébert, S., Cohen, J.C., McPherson, R., Pennacchio, L.A. J. Clin. Invest. (2005) [Pubmed]
  3. Intrinsic signaling function of APP as a novel target of three V642 mutations linked to familial Alzheimer's disease. Okamoto, T., Takeda, S., Giambarella, U., Murayama, Y., Matsui, T., Katada, T., Matsuura, Y., Nishimoto, I. EMBO J. (1996) [Pubmed]
  4. Interaction between VA RNA and the lupus antigen La: formation of a ribonucleoprotein particle in vitro. Francoeur, A.M., Mathews, M.B. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  5. Checkpoint kinase 2-mediated phosphorylation of BRCA1 regulates the fidelity of nonhomologous end-joining. Zhuang, J., Zhang, J., Willers, H., Wang, H., Chung, J.H., van Gent, D.C., Hallahan, D.E., Powell, S.N., Xia, F. Cancer Res. (2006) [Pubmed]
  6. Structural alterations in the translational attenuator of constitutively expressed ermC genes. Werckenthin, C., Schwarz, S., Westh, H. Antimicrob. Agents Chemother. (1999) [Pubmed]
  7. Synthesis of mutant parathyroid hormone genes via site-specific recombination directed by crossover linkers. Sung, W.L., Zahab, D.M., MacDonald, C.A., Tam, C.S. Gene (1986) [Pubmed]
  8. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Lebo, R.V., Ikuta, T., Milunsky, J.M., Milunsky, A. Clin. Genet. (2001) [Pubmed]
  9. Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase. Yokoyama, Y., Teraoka, M., Tsuji, K., Ninomiya, S., Inoue, C., Yamashita, S., Narahara, K., Seino, Y. Am. J. Med. Genet. (2000) [Pubmed]
  10. Molecular analysis of the macrolide-lincosamide resistance gene region of a novel plasmid from Staphylococcus hyicus. Schwarz, S., Lange, C., Werckenthin, C. J. Med. Microbiol. (1998) [Pubmed]
  11. Biogenesis of the yeast vacuole (lysosome). Signal sequence deletion of the vacuolar aspartic proteinase yscA does not block maturation of vacuolar proteinases. Rupp, S., Wolf, D.H. Biol. Chem. Hoppe-Seyler (1993) [Pubmed]
  12. Processing of chimeric mammalian cytochrome b5 precursors in Escherichia coli: reaction specificity of signal peptidase and identification of an aminopeptidase in post-translocational processing. Harding, V., Karim, A., Kaderbhai, N., Jones, A., Evans, A., Kaderbhai, M.A. Biochem. J. (1993) [Pubmed]
  13. Characterization and in vivo cloning of prlC, a suppressor of signal sequence mutations in Escherichia coli K12. Trun, N.J., Silhavy, T.J. Genetics (1987) [Pubmed]
  14. Methylation of the tumor suppressor gene RASSF1A in human tumors. Pfeifer, G.P., Dammann, R. Biochemistry Mosc. (2005) [Pubmed]
  15. Glucagon: structure-function relationships investigated by sequence deletions. Frandsen, E.K., Grønvald, F.C., Heding, L.G., Johansen, N.L., Lundt, B.F., Moody, A.J., Markussen, J., Vølund, A. Hoppe-Seyler's Z. Physiol. Chem. (1981) [Pubmed]
  16. Loss of heterozygosity at chromosomes 3p and 17p in primary non-small cell lung cancer. Chmara, M., Wozniak, A., Ochman, K., Kobierska, G., Dziadziuszko, R., Sosinska-Mielcarek, K., Jassem, E., Skokowski, J., Jassem, J., Limon, J. Anticancer Res. (2004) [Pubmed]
  17. The stem-loop region of the tobacco psbA 5'UTR is an important determinant of mRNA stability and translation efficiency. Zou, Z., Eibl, C., Koop, H.U. Mol. Genet. Genomics (2003) [Pubmed]
  18. PCR and immunoblot analyses of dystrophin in Becker muscular dystrophy. Uchino, M., Miike, T., Iwashita, H., Uyama, E., Yoshioka, K., Sugino, S., Ando, M. J. Neurol. Sci. (1994) [Pubmed]
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