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.
- Angelman syndrome
- Prader–Willi syndrome
- Dup15q syndrome
- Antisense oligonucleotides
- Genomic imprinting
- Chromosome 15q11-q13
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The work was supported by the following funding sources: NIH HD068730, NIH HD091823-01, Foundation for Prader–Willi Research, and Connecticut DPH Stem Cell Research Program (12SCBUCHC) to SJC, the Joseph Wagstaff Postdoctoral Fellowship to NDG, NIH MH094896 to ESL, and the Angelman Syndrome Foundation and Connecticut DPH Stem Cell Research Program (14-SCDIS) to both SJC and ESL.
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Germain, N.D., Levine, E.S., Chamberlain, S.J. (2020). IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies. In: DiCicco-Bloom, E., Millonig, J. (eds) Neurodevelopmental Disorders . Advances in Neurobiology, vol 25. Springer, Cham. https://doi.org/10.1007/978-3-030-45493-7_3
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