Genetic and epigenetic studies of the FSHD-associated D4Z4 repeat
Overveld, P.G.M. vanCitation
Overveld, P. G. M. van. (2005, April 27). Genetic and epigenetic studies of the FSHD-associated D4Z4 repeat. Retrieved from https://hdl.handle.net/1887/2310
Version: Corrected Publisher’s Version
License: Licence agreement concerning inclusion of doctoral thesis in theInstitutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/2310
Table of contents
Preface Aim and outline of this thesis ... 9
Chapter 1 Literature overview ... 15
Clinical characteristics of FSHD ... 21
Molecular characteristics of the FSHD-associated chromosomal region ... 28
Organisation of repeats and subtelomeric regions in the genome ... 40
Mosaicism and its consequences for human disease ... 50
Epigenetic modifications ... 57
Postulated disease models for FSHD pathology ... 71
Chapter 2 Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity Human Molecular Genetics (2000) 9: 2879-2884 ... 99
Chapter 3 Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy American Journal of Human Genetics (2004) 75: 44-53 ... 115
Chapter 4 De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10 American Journal of Human Genetics (2000) 66: 26-35 ... 135
Chapter 5 Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulo-humeral muscular dystrophy Nature Genetics (2003) 35: 315-317 ... 153
Chapter 6 Residual D4Z4 repeat size and D4Z4 methylation levels separate FSHD into two clinical severity classes Submitted ... 167
Chapter 7 Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q Human Molecular Genetics (2003) 12: 2909-2921 ... 181
Chapter 8 Discussion and future perspectives ... 209
Subtelomeric exchanges between 4q35 and 10q26 ... 213
Mosaicism for the FSHD-associated region ... 220
Epigenetic modifications of the 4q35 region ... 222
Summary - Samenvatting ... 237
List of abbreviations ... 251
List of publications ... 253
Curriculum Vitae ... 255
