Poc1a^cha

Exon 8 is disrupted by the insertion of a nearly full-length transcript (in reverse orientation) of centromere protein W (Cenpw) gene, including a 61 nucleotide poly-A tail that is 24 bp downstream from the common polyadenylation sequence AUUAAA. The total size of the insertion is 495 bp, and it includes a 5 untranslated region (UTR) lacking only seven bp relative to the published transcription start site, all three exons of Cenpw, and a 3UTR. Sequencing of the mutant RT-PCR product revealed that exon 8 is skipped precisely, preserving the reading frame of the transcript. Western blots were carried out to detect the expressed protein in tibiae. A single band of similar intensity was detected in wild type and mutant tibia, suggesting that a mutant protein is expressed. (J:227335)