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Single Oocyte Bisulfite Mutagenesis

Single Oocyte Bisulfite Mutagenesis

Published on: June 27, 2012

Pervasive polymorphic imprinted methylation in the human placenta.

Courtney W Hanna¹, Maria S Peñaherrera², Heba Saadeh³

¹Epigenetics Programme, Babraham Institute, Cambridge CB22 3AT, United Kingdom; Centre for Trophoblast Research, University of Cambridge, Cambridge CB2 3EG, United Kingdom;

Genome Research

|January 16, 2016

Summary

This summary is machine-generated.

Genomic imprinting, crucial for mammalian development, involves parent-specific gene expression regulated by DNA methylation. This study identified 101 novel imprinted differentially methylated regions (DMRs) in the human placenta, revealing dynamic and extensive imprinting patterns.

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Area of Science:

Developmental Biology
Epigenetics
Genomics

Background:

Mammalian development requires both maternal and paternal genomes, primarily due to imprinted genes with parent-of-origin-specific expression.
Differentially methylated regions (DMRs) typically regulate imprinted gene expression, established in germ cells and maintained post-fertilization.
Many germline DMRs lack functional association, and their role in development remains unclear.

Purpose of the Study:

To identify novel imprinted DMRs in the human placenta using a genome-wide approach.
To investigate the developmental dynamics of imprinted DMRs in somatic and extraembryonic tissues.
To explore the role of DNA methylation in placental development and imprinting.

Main Methods:

Genome-wide DNA methylation analysis using the Illumina HumanMethylation450 array in 134 human tissue samples.
Utilized publicly available reduced representation bisulfite sequencing data from human embryos and germ cells.
Employed targeted bisulfite sequencing in term placentas and compared methylation in triploid conceptions.

Main Results:

Identified 43 known and 101 novel imprinted DMRs in the human placenta.
Discovered 72 novel DMRs with placental-specific imprinting, exclusively of maternal origin.
Observed polymorphic imprinted methylation patterns among these novel placental DMRs.

Conclusions:

Human placental imprinting is more extensive and dynamic than previously understood.
The placenta preferentially maintains maternal germline-derived DNA methylation.
Novel imprinted DMRs likely play significant roles in human development and placental function.