Figure 6. Gene order and REST binding sites on chromosome 15q11-13 (Modified from Bittel et al. 2006).

Figure 6Gene order and REST binding sites on chromosome 15q11-13 (Modified from Bittel et al. 200678)

Chromosome 15 contains segmental duplications and repeated transcribed DNAsequences (i.e., HERC2 genes) located at the proximal and distal ends of the 15q11-q13 region. The typical deletion of the 15q11-q13 region causes PWS and AS presumably due to unequal crossing over in meiosis at breakpoint (BP1-5). Most common deletions extend the region from either of two proximally positioned breakpoints (BP1 or BP2) to a distal breakpoint (BP3). BP is shown by the curved line.

From: GABRB3, Epilepsy, and Neurodevelopment

Cover of Jasper's Basic Mechanisms of the Epilepsies
Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition.
Noebels JL, Avoli M, Rogawski MA, et al., editors.
Copyright © 2012, Michael A Rogawski, Antonio V Delgado-Escueta, Jeffrey L Noebels, Massimo Avoli and Richard W Olsen.

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