Fig. 4.

ATRX in vivo expression in EBV-transformed patient lymphocytes. (a) ATRX mRNA levels of patient mutations and normal controls as determined by quantitative RT-PCR. Patients are grouped according to the nature of their underlying mutation: cysteine mutations are orange, buried mutations are blue, and surface mutations are green. Values for normal individuals are represented by black circles. For each case, the ATRX mRNA level is expressed as the percentage of the average for 18 normal control individuals. (b) ATRX protein levels of patients and normal controls. Cases are grouped as in a. ATRX protein levels are expressed as a percentage of the average value for seven normal control individuals. (c) Representative Western blots showing ATRX protein levels (including loading control). Lane 1 represents the ATRX protein level for a cysteine mutation, lanes 2–4 are buried mutations, lanes 5–7 are surface mutations, and lane 8 is a normal control.