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Human Molecular Genetics Advance Access published online on September 14, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh290
© 2004 by Oxford University Press
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Article

Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo

Boris Kantor 1, Yotam Kaufman 1, Kirill Makedonski 1, Aharon Razin 1*, and Ruth Shemer 1

1 Department of Cellular Biochemistry and Human Genetics, The Hebrew University--Hadassah Medical School, Jerusalem, Israel 91120

* To whom correspondence should be addressed. E-mail: razina{at}md.huji.ac.il.


  Abstract

The Prader-Willi/Angelman imprinted domain on human chromosome 15q11-q13 is regulated by an imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-SRO) and a sequence located 35 kb upstream (AS-SRO). We have previously hypothesized that the primary imprint is established on AS-SRO, which then confers imprinting on PWS-SRO. Here we examine this hypothesis using a transgene that includes both AS-SRO and PWS-SRO sequences and carries out the entire imprinting process. The epigenetic features of this transgene resemble those previously observed on the endogenous locus, thus allowing analyses in the gametes and early embryo. We demonstrate that the primary imprint is in fact established in the gametes, creating a differentially methylated CpG cluster (DMR) on AS-SRO, presumably by an adjacent de novo signal (DNS). The DMR and DNS bind specific proteins: an allele-discrimination protein (ADP) and a de novo methylation protein (DNP) respectively. ADP being a maternal protein is involved in both the establishment of DMR in the gametes and its maintenance through implantation when methylation of PWS-SRO on the maternal allele takes place. Importantly, while the AS-SRO is required in the gametes to confer methylation on PWS-SRO, it is dispensable later in development.


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