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The handle http://hdl.handle.net/1887/136945 holds various files of this Leiden University dissertation.

Author: Wu, H.

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RIF1, ZBTB24 and repeat silencing

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Lay out & cover design: Haoyu Wu Printing: PrintSupport4U

ISBN: 978-94-92597-46-5

ã Copyright by Haoyu Wu, Leiden, Netherlands

All rights reserved. No part of this thesis may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in written of the copyright owner.

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RIF1, ZBTB24 and repeat silencing

Proefschrift

ter verkrijging van de graad van Doctor aan de Universiteit

Leiden, op gezag van Rector Magnificus prof.mr. C.J.J.M.

Stolker, volgens besluit van het College voor Promoties te

verdedigen op woensdag 21 oktober 2020

Klokke 10.00 uur

door

Haoyu Wu

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Promotor: Prof. Dr. Ir. S.M. van der Maarel Co-promotor: Dr. L. Clemens-Daxinger

Leden promotiecommissie: Prof. Dr. J.H.L.M. van Bokhoven1 Prof. Dr. A.C. Lankester

Prof. Dr. J. Gribnau2 Prof. Dr. I. Meulenbelt

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Table of contents

Chapter 1: Introduction 7

Chapter 2: Rif1 participates in transcriptional regulation of X-linked

ampliconic regions and germline genes in mammals. 33 Chapter 3: Converging disease genes in ICF syndrome: ZBTB24 controls

expression of CDCA7 in mammals. 64

Chapter 4: A functional assay to classify ZBTB24 missense variants of

unknown significance. 105

Chapter 5: Zbtb24 binding protects promoter activity by antagonizing

DNA methylation. 125

Chapter 6: General discussion 176

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