Two mutations were found: deletion of the pregnancy associated plasma protein A (PAPPA) and mutation in the SIX5
Mice deficient in Six5
develop cataracts: implications for myotonic dystrophy.
Lower DMPK Sense and SIX5 Transcript Levels in Mice with Expanded CTG-Repeats, While Antisense Transcript Levels Appear Unaffected by CTG-Repeat Length.
SIX5 expression levels are affected by increasing repeat length, as they show a significant decrease across the repeat length categories.
However, the transgene is large (45 kb) and contains the major regulatory sequences between DMPK and SIX5 [14, 19].
Consistent with chromatin changes representative of transcriptional repression, we saw lower sense DMPK and SIX5 expression in mice that carry an expanded CTG-repeat (Figure 5).
The DMPK antisense transcript emanates from the SIX5 adjacent regulatory region.
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