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Even though scientific tests in insects provided a conceptual framework for imprints that distinguish maternal and paternal chromosomes, the focus of this chapter will not be on genome-large imprinting but relatively to the imprints that distinguish specific genes or gene clusters and ultimately bring about the mum or dad-of-origin-dependent expression of the corresponding alleles.
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Even so, there are plenty of basically unique mechanisms that may result in this type of maternal impact and Kermicle applied an elegant number of genetic experiments to tell apart among them (Kermicle 1970).
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five.six). For AS, about ten–fifteen% on the cases carry a mutation inside the maternally expressed UBE3A gene, figuring out UBE3A as gene most likely answerable for AS. It's not necessarily yet fully very clear which on the genes from the PWS area with the imprinting cluster is to blame for PWS, While modern proof details for the SNORD116 locus encoding a set of smaller nucleolar RNAs.
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Mutants affecting MET1 indicated an involvement of DNA methylation in silencing the paternal MEA allele. This was verified because of the identification of DEMETER (DME), a DNA glycosylase which can excise methylated cytosines via base excision fix (Choi et al. 2002). DME is preferentially expressed in the central mobile, in which it causes demethylation that then brings about the hypomethylation on the maternal chromosomes inside the endosperm immediately after fertilization.