File:A schematic of D4Z4 locus on chromosome 4.jpg

English: This diagram illustrates the genetic mechanisms for Facioscapulohumeral muscular dystrophy. From the journal article's description of this figure: "The D4Z4 locus is in the sub-telomeric region of 4q. The figure shows a three repeat D4Z4 array. CEN indicates the centromeric end and TEL indicates the telomeric end. The DUX4 gene is shown as a gray rectangle with exon 1 and exon 2 in each repeat and exon 3 in the pLAM region telomeric to the last partial repeat (numbered 1, 2, and 3). PAS indicates the polyadenylation site on the permissive 4qA allele that is not present on the non-permissive 4qB allele or on chromosome 10. The arrowed lines represent: Blue, DBE-T transcripts (2.4, 4.4, and 9.8 kb) found in FSHD cells and reported to de-repress DUX4 expression; Black and red, transcripts in the sense and anti-sense direction were detected in both FSHD and control cells and might originate from the mapped sense promoters (black) and anti-sense promoters (red) with dashed lines indicating areas that might be degraded or produce si-like small RNAs. NDE, non-deleted element identified as the transcription start site for the DBE-T transcripts."