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Imprint switch mechanism indicated by mutations in prader-willi and angelman syndromes

✍ Scribed by Gavin Kelsey; Wolf Reik

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
727 KB
Volume
19
Category
Article
ISSN
0265-9247

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✦ Synopsis

Abstract

Genomic imprinting is an epigenetic mechanism resulting in the preferential expression of the maternal or paternal alleles of a specific subset of genes in the mammalian genome. A key but relatively unexplored question is how imprints are established in the germline. New observations^(1)^ on two classical imprinting disorders, the Prader‐Willi (PWS) and Angleman (AS) syndromes, offer the first genetic insight into this process. Molecular analysis of imprinting mutations that interfere with the appropriate establishment of the maternal and paternal epigenotypes has led to the identification of imprinted transcripts that could be involved in switching imprints in the germlines.

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Clinical spectrum and molecular diagnosi
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
✍ Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 305 KB πŸ‘ 2 views

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13