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A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development.


Type

Article

Change log

Authors

Tang, Walfred WC 
Dietmann, Sabine 
Irie, Naoko 
Leitch, Harry G 
Floros, Vasileios I 

Abstract

Resetting of the epigenome in human primordial germ cells (hPGCs) is critical for development. We show that the transcriptional program of hPGCs is distinct from that in mice, with co-expression of somatic specifiers and naive pluripotency genes TFCP2L1 and KLF4. This unique gene regulatory network, established by SOX17 and BLIMP1, drives comprehensive germline DNA demethylation by repressing DNA methylation pathways and activating TET-mediated hydroxymethylation. Base-resolution methylome analysis reveals progressive DNA demethylation to basal levels in week 5-7 in vivo hPGCs. Concurrently, hPGCs undergo chromatin reorganization, X reactivation, and imprint erasure. Despite global hypomethylation, evolutionarily young and potentially hazardous retroelements, like SVA, remain methylated. Remarkably, some loci associated with metabolic and neurological disorders are also resistant to DNA demethylation, revealing potential for transgenerational epigenetic inheritance that may have phenotypic consequences. We provide comprehensive insight on early human germline transcriptional network and epigenetic reprogramming that subsequently impacts human development and disease.

Description

Keywords

Animals, DNA Methylation, Embryo, Mammalian, Epigenesis, Genetic, Female, Gene Expression Regulation, Developmental, Gene Regulatory Networks, Genome, Human, Germ Cells, Humans, Kruppel-Like Factor 4, Male, Mice, Promoter Regions, Genetic, Retroelements

Journal Title

Cell

Conference Name

Journal ISSN

0092-8674
1097-4172

Volume Title

161

Publisher

Elsevier BV
Sponsorship
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (097922/Z/11/B)
W.C.C.T is supported by Croucher Foundation and Cambridge Trust. P.F.C.is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z), and a UK NIHR Senior Investigator with additional support from the Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z). M.A.S. is supported by HFSP and Wellcome Trust Investigator Award.