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

• Using different crossover linkers, a human parathyroid hormone gene which had previously been cloned into plasmid pUC8 was converted to mutant coding sequences via specific base substitution, sequence deletion and sequence insertion [7].
• Illegitimate recombination resulting in deletion at a substantial proportion of the shared MECP2 sites is enhanced by repeated guanosine (G) DNA sequences in the antisense direction, consistent with reports at other gene loci that polypurine (multiple guanosine or adenosine (A)) basepairs enhance sequence deletion [8].
• The upstream and downstream sequences of CYP21 have been specifically amplified by using a primer set containing the 8-bp deletion sequence of exon 3, which is distinct from its pseudogene CYP21P [9].
• Previous studies identified sequence deletions and sequence duplications in the ermC regulatory region as the basis for constitutive ermC gene expression [10].
• Biogenesis of the yeast vacuole (lysosome). Signal sequence deletion of the vacuolar aspartic proteinase yscA does not block maturation of vacuolar proteinases [11].

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

• These mutations can be placed into three classes based on the degree to which they suppress the lamB signal sequence deletion, lamBs78 [13].
• We have identified the Ras-association domain family 1A gene (RASSF1A), which is localized at 3p21.3 in a minimum deletion sequence [14].
• Glucagon: structure-function relationships investigated by sequence deletions [15].
• Sequence deletions of D17S520 (17p12) and TP53 (17p13.1) occurred in 52% of tumours [16].
• Our results showed a 1.5- to 3-fold decrease in uidA mRNA levels and a 1.5- to 6-fold reduction in uidA translation efficiency in all psbA 5'UTR stem-loop mutants generated by sequence deletions and base alterations [17].

Analytical, diagnostic and therapeutic context of Sequence Deletion

• Muscle biopsies were also performed in 20 BMD patients (10 with sequence deletions, and 10 without detectable sequence deletions) in order to correlate PCR findings with immunoblot and immunostaining data [18].

References