PMC:1440874 / 4391-5401 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1440874","sourcedb":"PMC","sourceid":"1440874","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1440874","text":"\nFigure 1 Schematic Representation of the ATRX Isoforms\nShown at the top is the human ATRX cDNA. The boxes represent the 36 exons. The introns are not to scale. The alternative splicing of exons 6 and 7 is indicated. Shown underneath are the two ATRX protein isoforms. Full-length ATRX (~280 kDa) is encoded by the largest open reading frame. The positions of the principal features (the PHD-like domain and the seven SWI/SNF-like motifs) are indicated. Above full-length ATRX is shown the truncated ATRXt isoform (apparent molecular weight of ~200 kDa) that arises through the failure to splice intron 11 and the use of an intronic poly(A) signal. The intron-encoded region of ATRXt is indicated as a filled grey box. Locations of recombinant proteins (A2, FXNP5, and H-300) used to generate antibodies are shown. The scale bar represents 200 amino acids. Disease-causing missense mutations are clustered in two regions of the gene: a PHD-like zinc finger domain and a SNF2-like ATPase domain (Figure 1) 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