Abstract

Background Genomic imprinting is the epigenetic process by which a subset of genes is expressed from only one allele based on the parent of origin. To date there are approximately 150 confirmed autosomal imprinted loci in the mammalian genome. The epigenetic hallmark of an autosomal imprinted locus is the presence of differential methylation at CpG islands otherwise known as a DMR[1]. Imprint maintenance at autosomal loci is accomplished through specific histone modifications[2]. In 2005, Raefski et.al. found the first X-linked imprinted locus, Xlr3/4 of which three paralogs, Xlr3b/4b/4c, were maternally expressed and paternally silenced in mouse neonatal brain[3]. Here we use a series of techniques to uncover the imprinting mechanism at the Xlr locus using known autosomal imprinting mechanisms as a model.

Highlights

  • Genomic imprinting is the epigenetic process by which a subset of genes is expressed from only one allele based on the parent of origin

  • We show that there is no differential methylation at the Xlr3/4 locus between 39, Xm and 39XP samples

  • Potential candidate regions for differential methylation according to MeDIP assays were disproven by bisulfite sequencing of CpG islands within those regions

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Summary

Introduction

Genomic imprinting is the epigenetic process by which a subset of genes is expressed from only one allele based on the parent of origin. To date there are approximately 150 confirmed autosomal imprinted loci in the mammalian genome. The epigenetic hallmark of an autosomal imprinted locus is the presence of differential methylation at CpG islands otherwise known as a DMR[1]. Imprint maintenance at autosomal loci is accomplished through specific histone modifications[2]. In 2005, Raefski et al found the first X-linked imprinted locus, Xlr3/4 of which three paralogs, Xlr3b/4b/4c, were maternally expressed and paternally silenced in mouse neonatal brain[3]. We use a series of techniques to uncover the imprinting mechanism at the Xlr locus using known autosomal imprinting mechanisms as a model

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Results
Conclusion

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