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. 2010 Oct 28;6(10):e1001181. doi: 10.1371/journal.pgen.1001181

Figure 5. Alternative exon and polyadenylation site usage in germ-line and somatic tissues.

Figure 5

(A) Schematic of last D4Z4 unit, last partial repeat, and distal exons. Exon 7 is approximately 6.5 kb from the polyadenylation site in exon 3. DUX4-fl from FSHD muscle contains exons 1-2-3. DUX4-s uses a non-consensus splice donor in the middle of exon 1 to create a short exon 1: 1s-2-3. Both are derived exclusively from chromosome 4A in muscle and other sampled somatic tissues. Germ line tissue expresses the 4A transcript with exons 1-2-3 but also expresses both 4A and 10A transcripts with exons 1-2-6-7. We have also identified a transcript in testis that shows a 1-2-4-5-6-7 splice usage. (B–E) Exon sequences (upper case letters) with flanking genomic sequence (lower case letters). B, Exon 4. C, Exon 5. D. Exon 6. E. Exon 7. Exon 6 and 7 sequences are from a cDNA assigned to chromosome 10, exon 4 and 5 sequences are from a cDNA assigned to 4A161.