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Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos
Human mutation, 2011-07, Vol.32 (7), p.783-793
Voet, Thierry
Vanneste, Evelyne
Van der Aa, Niels
Melotte, Cindy
Jackmaert, Sigrun
Vandendael, Tamara
Declercq, Matthias
Debrock, Sophie
Fryns, Jean-Pierre
Moreau, Yves
D'Hooghe, Thomas
Vermeesch, Joris R.
2011
Details
Autor(en) / Beteiligte
Voet, Thierry
Vanneste, Evelyne
Van der Aa, Niels
Melotte, Cindy
Jackmaert, Sigrun
Vandendael, Tamara
Declercq, Matthias
Debrock, Sophie
Fryns, Jean-Pierre
Moreau, Yves
D'Hooghe, Thomas
Vermeesch, Joris R.
Titel
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos
Ist Teil von
Human mutation, 2011-07, Vol.32 (7), p.783-793
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2011
Link zum Volltext
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Recently, a high incidence of chromosome instability (CIN) was reported in human cleavage stage embryos. Based on the copy number changes that were observed in the blastomeres it was hypothesized that chromosome breakages and fusions occur frequently in cleavage stage human embryos and instigate subsequent breakage‐fusion‐bridge cycles. In addition, it was hypothesized that the DNA breaks present in spermatozoa could trigger this CIN. To test these hypotheses, we genotyped both parents as well as 93 blastomeres from 24 IVF embryos and developed a novel single nucleotide polymorphism (SNP) array‐based algorithm to determine the parental origin of (aberrant) loci in single cells. Paternal as well as maternal alleles were commonly rearranged in the blastomeres indicating that sperm‐specific DNA breaks do not explain the majority of these structural variants. The parent‐of‐origin analyses together with microarray‐guided FISH analyses demonstrate the presence of inv dup del chromosomes as well as more complex rearrangements. These data provide unequivocal evidence for breakage–fusion–bridge cycles in those embryos and suggest that the human cleavage stage embryo is a major source of chromosomal disorders. Hum Mutat 32:783–793, 2011. © 2011 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794, 1098-1004
eISSN: 1098-1004
DOI: 10.1002/humu.21502
Titel-ID: cdi_hal_primary_oai_HAL_hal_00655182v1
Format
–
Schlagworte
Algorithms
,
BFB
,
Blastomeres
,
Blastomeres - ultrastructure
,
breakage-fusion-bridge cycle
,
Chromosome Deletion
,
Chromosome Duplication - genetics
,
chromosome instability
,
Chromosome Inversion - genetics
,
Chromosomes
,
CIN
,
cleavage stage embryogenesis
,
Cleavage Stage, Ovum - ultrastructure
,
copy number
,
Data processing
,
DNA Breaks
,
DNA Copy Number Variations - genetics
,
DNA damage
,
Embryos
,
Fluorescence in situ hybridization
,
Humans
,
In Situ Hybridization, Fluorescence
,
in vitro fertilization
,
inv dup del
,
IVF
,
Male
,
Oligonucleotide Array Sequence Analysis
,
PGD
,
PGS
,
Polymorphism, Single Nucleotide
,
preimplantation genetic diagnosis
,
preimplantation genetic diagnosis for aneuploidy screening
,
Ring Chromosomes
,
Single-Cell Analysis
,
single-cell microarray analysis
,
Single-nucleotide polymorphism
,
Sperm
,
Spermatozoa - ultrastructure
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