Figure 1.

Examples of imprinted genes in Human genome. (a) Imprinted genes in both lymphoblasts and fibroblasts: GNAS is an example of an imprinted gene that has been previously described in the literature and has been confirmed in our study as well. (b) Imprinted genes in fibroblasts only: PLAGL1 is an example of tissue-specific imprinting (isoform 1). (c) Novel imprinted genes: ZDBF2 is an example of a novel imprinted gene. In each case, the figure shows all of the informative pedigrees. For the trios, the colors indicate the paternal allele (blue) and the maternal allele (red). For the three-generation pedigree the colors indicate which parental allele is inherited. The bars indicate which allele is overexpressed as well as the degree of overexpression.