TILLING is fast becoming a mainstream technology for mutation characterization (Comai and Henikoff, 2006) and for analysing single nucleotide polymorphisms (SNP) (Cordeiro et al., 2006 a ).
Table 1 shows the features from the studied population including the experiments 1, 2 and 3. CFTR mutation frequency and mutation characterization are described, respectively, in the Additional files 2 and 3.> -wrap-foot> *Mean ± standard deviation; median (minor and major values).
Sequence variation annotation was performed using the IntegraGen in-house pipeline, which consisted of gene annotation (RefSeq), detection of known single nucleotide polymorphisms (dbSNP 135) followed by mutation characterization (missense, intronic, synonymous, nonsense, splice site, and insertions/deletions).
In the present study, we have therefore utilized co-evolution analysis to identify candidate residues in ABCG2 for mutation and characterization.
In the early 2000s, every living participant in the gene-identification studies was invited to participate in a phenotyping study, which included detailed phenotype characterization and mutation testing, but no participants were aware of the presence of the p16 mutation in their family or their personal mutation status (24).
The generation of new transgenic mice carrying other specific β-thalassemia mutations might help the characterization and development of drugs that selectively target specific mutations.
E.L., M.W. and A.G. designed the study, E.L. and K.S. designed the discovery study, E.L. performed discovery experiments; E.L. and E.M.K. performed enzymatic characterization and mutations experiments; E.L., M.W., K.S. and M.G.K. designed the synthesis study; E.L. and M.G.K. performed synthesis experiments; R.B.G. designed the proteomics experiments.
Six independently isolated suppressor mutations were chosen for characterization and sequencing.
Details of performed selections and predictions are described in the Materials and Methods section (see "Selection of position mutations for the GeneSV characterization and experimental validation").
Three of my postdoctoral fellows (who contributed to the isolation of mutations, complementation testing, their characterization and their molecular identification) were co-first authors when the work was published in Nature, and the work has spawned a multitude of publications and ongoing projects.
