Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
J. Clin. Invest. Taizo Wada, et al. 111:1389 doi:10.1172/JCI15485 [Go to this article.]

Figure 3
Characterization of WASP gene mutations and expression. (a) The WASP gene exon 10 sequence was amplified from DNA extracted from normal PBMCs, as well as WASP^– T and WASP⁺ T lymphocytes of patient II-1. Direct sequencing was performed using an automated sequencer. A thick bar highlights the position of the original insG mutation and thin bars show the 4-bp repeat sequences. (b) Model for the generation of hairpin structure facilitating the second-site mutation by slipped mispairing and deletion of 19 bp. (c) Predicted structures of mutated WASP molecules. PH, pleckstrin homology; WH, Wiskott homology; GBD, GTPase-binding domain; PPPP, proline rich. del, deletion. (d) Western blot analysis of WASP was performed using lysates of cultured T lymphocytes obtained from a healthy control and the patients. Arrows indicate the position of the WASP band and of a nonspecific protein reactive with the secondary Ab (NS). IB, immunoblotting.