Day 292 (15p11.2-15q11.2): the imprinted Prader-Willi/Angelman region

This painting was originally called "Boy with a Puppet" and inspired the initial description of Angelman Syndrome https://en.wikipedia.org/wiki/Angelman_syndrome#/media/File:Ritratto_di_fanciullo_con_disegno_Giovanni_Francesco_Caroto.jpg

This painting was originally called “Boy with a Puppet” and inspired the initial description of Angelman Syndrome

Day 292 has 26 protein-coding genes (browser view) and is famous for two syndromes involving this region: Prader-Willi and Angelman.

These two different syndromes both result from mutation or deletion of the region around UBE3A, which also contains a huge cluster of snoRNA genes. The two different syndromes result from whether the deletion is from the mother (Angelman) or father (Prader-Willi), the first discovered example of an imprinting effect in on genetic disease.

Click here to see all 8499266 letters of Day 292 with UBE3A underlined.

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