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Comment
. 2010 Oct 28;6(10):e1001180.
doi: 10.1371/journal.pgen.1001180.

FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)

Christopher E Pearson  1
Affiliations
Comment

FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)

Christopher E Pearson. PLoS Genet. .
No abstract available

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Conflict of interest statement

The author has declared that no competing interests exist.

Figures

Figure 1
Figure 1. Simplified schematic outlining the genetic requirements for FSHD and the current model for pathogenesis.
The Chromosome 4 D4Z4 repeats (open triangles) and its homolog on Chromosome 10 (closed triangles), indicating the 4qA/4qB polymorphisms that define the genetic background of the repeat. Individuals with FSHD have a D4Z4 repeat tract of <11 repeats, at least 1 unit on 4qA but not on 4qB or 10q chromosomes. All permissive chromosomes and FSHD individuals have a distal canonical highly efficient poly(A) motif ATTAAA. Non-permissive chromosomes have inefficient degenerate motifs. Both have alternative poly(A) motifs further downstream. Current model involving contraction, DUX4 transcription, polyadenylation, altered chromatin, regulated DUX4 splicing, tissue- and development-specific DUX-fl protein expression. See text for details. Lower, de-differentiation and differentiation affect DUX4-fl expression in control but not FSHD cells. See text for details.
See this image and copyright information in PMC

Comment on

References

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