Dup15q Syndrome

DUP15q syndrome is closely related to Angelman Syndrome, as it involves the same genetic region: the q11-13 region of chromosome 15. However, in contrast to Angelman Syndrome which is often caused by a deletion of the 15q-11-13 region, in Dup15q this region is duplicated.

It is generally believed that one of the critical genes that underlies the Dup15q disorder, is UBE3A. Hence, while loss of UBE3A causes Angelman Syndrome, too much of UBE3A causes Dup15q. Together with the laboratory of Ben Philpot we are investigating the effect of increased levels of UBE3A in mice. More information about our research on UBE3A can be found on the Angelman Syndrome research page of this website

Punt AM, et.al. (2022) Molecular and behavioral consequences of Ube3a gene overdosage in mice. JCI Insight. Pubmed

van Woerden GM. (2019) Measuring Electroencephalography: The Ups and Downs of Delta and Beta Bands as Biomarkers for 15q11-q13–Related Disorders. Biol Psychiatry. e45–6. Pubmed

Elgersma Y. (2015) Neurodevelopmental disease: A molecular tightrope. Nature 526; 50–1. Pubmed