As well as affecting transcriptional regulation, repeat sequences can alter the sequences of genes without disrupting their function.
The novel 13 base pair duplication allele identified in this study is of interest as even single base changes in promoter sequences can alter regulation of gene expression and contribute to tumorigenesis, particularly if this affects a transcription factor binding site (e.g. [ 19, 20]).
Indeed, it is now recognized that vector bearing enhancer sequences can alter the expression of neighbouring genes (Maruggi et al, 2009) and several studies associated events of clonal dominance in vivo to vector insertion sites (Kustikova et al, 2007; Montini et al, 2006, 2009).
In future, novel approaches of sequencing, such as third and fourth generation sequencing can alter the workflow, cost, analysis, and interpretation of genomics associated with PCC/PGL.
The 5hmC sites mainly located in the coding sequence, can alter local chromatin structure or associate with the demethylation process to induce transcription [ 43].
27 In addition, substitutions in one or two amino acids of a protein sequence can alter the quantity of encoded protein during expression in mammalian cells.
Indeed, naturally occurring SNPs outside the mature miR sequence can alter processing and lead to misregulation (Duan et al. 2007; de Meaux et al. 2008; Jazdzewski et al. 2008, 2009).
Conflicting with this view, however, are observations that changes in DBD sequence can alter the arrangement of DNA-contacting residues in ways that seem to be inconsistent with a simple recognition code (Miller et al., 2003; Pabo and Nekludova, 2000).
For example, some proteins of the cystine-knot family bind to specific ion channels, which can result in toxic effects; however, changes in sequence can alter channel specificity, change the range of species susceptible to the toxin, or render the toxin ineffective because the structure and sequence of the toxin must match the structure and sequence of the targeted channel (Craik et al., 2001).
(3) A study of cognate Rev-RRE pairs from HIV-infected patients found that mutations in the RRE were responsible for changes in activity as the pairs evolved during the course of infection (Sloan et al., 2013), suggesting that small changes in RRE sequence can alter the architecture of the Rev-RRE complex to tune its functional output.
Transposon (or transposable element): a short DNA sequence that can alter its position within the genome, thereby causing genetic changes.
