Figure 2. . Schematic drawing of chromosome region 15q11.

Figure 2.

Schematic drawing of chromosome region 15q11.2-q13 indicating the breakpoint regions BP1-BP6. Low copy repeat elements are located within these breakpoint regions (see text for details). Approximately 90% of chromosome deletions resulting in Angelman syndrome initiate at BP1 or BP2 and terminate in region BP3 (class I and class II). Approximately 10% of deletions are larger, typically spanning from BP1 to BP5, rarely beyond BP5. Genes that are not imprinted and thus biparentally expressed are noted by the open circles. The two critical imprinting center (IC) elements, the AS-SRO and the PWS-SRO, are drawn as open boxes. The gene SNRUF-SNRPN, drawn as a shaded box, has some overlap with the PWS-SRO. The SNURF-SNRPN sense/UBE3A antisense transcript is labeled UBE3A-AS.

From: Angelman Syndrome

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