PMC:1440874 / 3663-4391 JSONTXT

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{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1440874","sourcedb":"PMC","sourceid":"1440874","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1440874","text":"The ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3 [3]. This gene encodes two dominant protein isoforms (Figure 1). As well as the full-length ATRX protein of ~280 kDa, which is encoded by a transcript of ~10 kb, we recently demonstrated that a truncated isoform called ATRXt (~200 kDa) is produced from a transcript of around 7 kb, which arises when intron 11 fails to be spliced from the primary transcript and an alternative intronic poly(A) signal is used [4]. The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms 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