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
List of abbreviations
251
List of abbreviations
Ab antibody
Ac acetylation
ADP adenosine diphosphate
ALP actinin-associated LIM protein gene ANT adenine nucleotide translocator gene 1 ATP adenosine triphosphate
BMD Becker muscular dystrophy
bp basepair
cDNA complementary DNA
cen centromere
ChIP chromatin immunoprecipitation
Chr chromosome
cM CentiMorgan
CSS clinical severity score
del deletion
DM myotonic dystrophy
DMD Duchenne muscular dystrophy DNA deoxyribonucleic acid
DNMT DNA methyltransferase DSB double strand break
DUX double homeobox protein gene EST expressed sequence tag
FISH fluorescence in situ hybridization FRG1 FSHD region gene 1
FRG2 FSHD region gene 2
FSHD facioscapulohumeral muscular dystrophy GAPD glyceraldehyde phosphate dehydrogenase GC+CO gene conversion with crossover
GC-CO gene conversion without crossover H1 linker histone 1
H2A histone 2A
H2B histone 2B
H3 histone 3
H4 histone 4
HAT histone acetyltransferase HDAC histone deacetylase
ICF immunodeficiency-centromeric instability-facial anomalies syndrome IP immunopreciptiation
K lysine
kb kilobase
LCL lymphoblastoid cell line LD linkage disequilibrium
LINE long interspersed nuclear element LTR long terminal repeat transposon
Mb megabase
mRNA messenger RNA
OPMD oculopharyngeal muscular dystrophy OR olfactory receptor
ORF open reading frame
List of abbreviations
252
PBMC peripheral blood mononuclear cell PCR polymerase chain reaction
PEV position effect variegation PFGE pulsed-field gel electrophoresis
q as in 4q: the long arm of a chromosome Q-PCR quantitative real-time PCR
RFLP restriction fragment length polymorphism RNA ribonucleic acid
rDNA ribosomal DNA rRNA ribosomal RNA RT reverse transcription
RTC relative telomeric repeat content Sat satellite
S.E.M. standard error of the mean SCH somatic cell hybrid
SD standard deviation
SDSA synthesis-dependent strand annealing SINE short interspersed nuclear element SNP single nucleotide polymorphism snRNA small nuclear RNA
SUMO small ubiquitin-related modifier
tel telomere
ter as in 4qter: the terminal region of a chromosome TUBB4Q tubulin beta polypeptide 4Q gene
