The Prader-Willi/Angelman imprinted domain and its control center.
The present review focuses on the recent advances towards understanding the mode of operation of the imprinting center (IC) within the Prader-Willi/Angelman syndromes (PWS/AS) domain. Special emphasis is put on the elucidation of the functional interaction between the two parts of the center, AS-IC and PWS-IC. The recent studies, on which the review is based, reveal cis-acting elements and trans-acting proteins that constitute the two parts of the IC and presumably provide the molecular mechanism for this interaction. AS-IC acquires the primary imprint during gametogenesis by establishing the maternal epigenotype. The unmethylated maternal allele of the AS-IC binds, very likely, a trans-acting factor that confers methylation on the PWS-IC maternal allele after fertilization. It is assumed that the PWS-IC paternal epigenotype, once established, spreads across the entire PWS/AS domain in the soma.
Department of Cellular Biochemistry and Human Genetics, The Hebrew University-Hadassah Medical School, Jerusalem, Israel.
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B
Kantor
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R
Shemer
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Razin
D017204:Angelman Syndrome / Q000235:genetics*; D000818:Animals; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D011218:Prader-Willi Syndrome / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases