IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies


Germain N.D., Levine E.S., Chamberlain S.J.

Scientific Notation:

Neurodevelopmental Disorders

Publication Link:



The chromosome 15q11-q13 region of the human genome is regulated by genomic imprinting, an epigenetic phenomenon in which genes are expressed exclusively from one parental allele. Several genes within the 15q11-q13 region are expressed exclusively from the paternally inherited chromosome 15. At least one gene UBE3A, shows exclusive expression of the maternal allele, but this allele-specific expression is restricted to neurons. The appropriate regulation of imprinted gene expression across chromosome 15q11-q13 has important implications for human disease. Three different neurodevelopmental disorders result from aberrant expression of imprinted genes in this region: Prader–Willi syndrome (PWS), Angelman syndrome (AS), and 15q duplication syndrome.

FPWR Grant:

Therapeutic Potential of Blocking Zinc Finger Protein 274 Binding to the PWS Locus