Title |
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
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Published in |
Molecular Autism, December 2011
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DOI | 10.1186/2040-2392-2-19 |
Pubmed ID | |
Authors |
Haley A Scoles, Nora Urraca, Samuel W Chadwick, Lawrence T Reiter, Janine M LaSalle |
Abstract |
Duplication of chromosome 15q11-q13 (dup15q) accounts for approximately 3% of autism cases. Chromosome 15q11-q13 contains imprinted genes necessary for normal mammalian neurodevelopment controlled by a differentially methylated imprinting center (imprinting center of the Prader-Willi locus, PWS-IC). Maternal dup15q occurs as both interstitial duplications and isodicentric chromosome 15. Overexpression of the maternally expressed gene UBE3A is predicted to be the primary cause of the autistic features associated with dup15q. Previous analysis of two postmortem dup15q frontal cortical samples showed heterogeneity between the two cases, with one showing levels of the GABAA receptor genes, UBE3A and SNRPN in a manner not predicted by copy number or parental imprint. |
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