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• W2082909360 abstract "The Angelman (AS) and Prader-Willi (PWS) syndromes are two clinically distinct disorders that are caused by a differential parental origin of chromosome 15q11–q13 deletions. Both also can result from uniparenta disomy (the inheritance of both copies of chromosome 15 from only one parent). Loss of the paternal copy of 15q11–q13, whether by deletion or maternal uniparental disomy, leads to PWS, whereas a maternal deletion or paternal uniparental disomy leads to AS. The differential modification in expression of certain mammalian genes dependent upon parental origin is knows as genomic imprinting, and AS and PWS represent the best examples of this phenomenon in humans. Although the molecular mechanisms of genomic imprinting are unknown, DNA methylation has been postulated to play a role in the imprinting process. Using restriction digests with the methyl-sensitive enzymes HpaII and HhaI and probing Southern blots with several genomic and cDNA probes, we have systematically scanned segments of 15q11–q13 for DNA methylation differences between patients with PWS (20 deletion, 20 uniparental disomy) and those with AS (26 deletion, 1 uniparental disomy). The highly evolutionarily conserved cDNA, DN34, identifies distinct differences in DNA methylation of the parental alleles at the D15S9 locus. Thus, DNA methylation may be used as a reliable, posnatal diagnostic tool in these syndromes. Furthermore, our findings demonstrate the first known epigenetic event, dependent on the sex of the parent, for a locus within 15q11–q13. We propose that expression of the gene detected by DN34 is regulated by genomic imprinting and, therefore, that it is a candidate gene for PWS and/or AS." @default.
• W2082909360 created "2016-06-24" @default.
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• W2082909360 date "1992-08-01" @default.
• W2082909360 modified "2023-10-10" @default.
• W2082909360 title "A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes" @default.
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• W2082909360 doi "https://doi.org/10.1016/0888-7543(92)90001-9" @default.
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