Abstract:
:Developmental abnormalities of human embryos can be visualized in utero using embryoscopy. Our previous embryoscopic and genetic evaluations detected developmental abnormalities in the majority of both euploid (74%) and aneuploid or polyploid (90%) miscarriages. Since we found the pattern of morphological changes to be similar in euploid and non-euploid embryos, we proposed that lethal submicroscopic changes, not detected by standard chromosome testing, may be responsible for miscarriage of euploid embryos. Whole genome oligo and bacterial artificial chromosome array comparative genome hybridization (CGH) was used to screen for submicroscopic chromosomal changes (DNA copy number variants or CNVs) in 17 euploid embryonic miscarriages, with a range of developmental abnormalities documented by embryoscopy. The CNV breakpoints were refined using a custom array (Agilent) with high resolution coverage of the CNVs. Six unique CNVs, previously not reported, were identified in 5 of the 17 embryos (29% of all cases or 50% of cases studied with higher resolution arrays). All six unique CNVs were <250 kb in size. On the basis of parental array CGH analysis, a de novo origin of a CNV was determined for one embryo (at 13q32.1) and suspected for another (at 10p15.3). Three CNVs, at Xq28, 1q25.3 and 7p14.3, were inherited and a CNV at 17p13.1 was of unknown origin. The genes contained within these unique CNVs will be discussed, with specific reference to rearrangements of syntaxin and tryptophan-aspartic acid (WD) repeat genes. Our report describes for the first time, de novo and inherited unique CNVs in euploid human embryos with specific developmental defects.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Rajcan-Separovic E,Qiao Y,Tyson C,Harvard C,Fawcett C,Kalousek D,Stephenson M,Philipp Tdoi
10.1093/molehr/gap083subject
Has Abstractpub_date
2010-02-01 00:00:00pages
125-34issue
2eissn
1360-9947issn
1460-2407pii
gap083journal_volume
16pub_type
杂志文章abstract::No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal094
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abstract::Stromal cell-derived factor-1 (SDF-1 or CXCL12) is the physiologic ligand for the chemokine receptor CXCR4. CXCR4-mediated signalling regulates cell migration and apoptosis in certain haematopoietic and neuronal cells. Using gene profiling, we determined that CXCR4 is the only chemokine receptor for which mRNA express...
journal_title:Molecular human reproduction
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doi:10.1093/molehr/gah118
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abstract::Spermatogenesis is a highly programmed process that requires the degradation of the extracellular matrix and the remodeling of tight junctions (TJ) to facilitate differentiating germ cell migration. Matrix metalloproteinases (MMPs) are essential in regulating Sertoli cell TJ in the testis. CD147 is known to stimulate ...
journal_title:Molecular human reproduction
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doi:10.1093/molehr/gar013
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pub_type: 杂志文章
doi:10.1093/molehr/8.9.823
更新日期:2002-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gat031
更新日期:2013-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal069
更新日期:2006-10-01 00:00:00
abstract::Human chromosome deletions in Yq11 seem to occur frequently as de novo mutation events in men with idiopathic azoospermia or severe oligozoospermia. However, the molecular extensions of these deletions are variable. They can be large and therefore visible under the microscope or small, not visible under the microscope...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/4.8.739
更新日期:1998-08-01 00:00:00
abstract::Oocyte quality is one of the most important aspects of in vitro embryo development. Extensive epigenetic programming must occur during oocyte growth and maturation. A specific DNA methylation pattern of the imprinted genes must be established on differentially methylated regions (DMR). The insulin-like growth factor 2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq075
更新日期:2011-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag084
更新日期:2003-11-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.12.959
更新日期:1996-12-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan054
更新日期:2008-10-01 00:00:00
abstract::In addition to prostaglandins, inflammatory cytokines induce uterine contraction via oxytocin (OT). Placental leucine aminopeptidase (P-LAP), an oxytocinase that is identical to cystine aminopeptidase, destroys OT activity. Patients with spontaneous preterm delivery have higher concentrations of inflammatory cytokines...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag015
更新日期:2003-02-01 00:00:00
abstract::The major regulators of endometrial function are oestrogen and progesterone, which act through binding their nuclear receptors and by activating transcription of their target genes. Interactions between steroid receptors and transcription proteins, e.g. c-JUN/AP-1, can modulate steroid action at the transcriptional le...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.12.1110
更新日期:1998-12-01 00:00:00
abstract::The present study was undertaken to investigate the effect of decidualization on superoxide dismutase (SOD) expression in human endometrial stromal cells (ESC). To induce decidualization, isolated ESC were incubated with medroxyprogesterone acetate (MPA, 10(-6) mol/l) and oestradiol (10(-8) mol/l) for 23 days. Insulin...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.2.178
更新日期:2000-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.1.63
更新日期:1996-01-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.10.807
更新日期:1996-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax067
更新日期:2018-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw038
更新日期:2016-08-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.12.1053
更新日期:1997-12-01 00:00:00
abstract::Psoriasin is a small calcium-binding protein first found in psoriatic lesions and also up-regulated in other inflammatory skin diseases and cancer tissues. Psoriasin is also present in the fetal epithelial cells. Its biological function is unclear, but there is both in vitro and in vivo evidence for its chemokine-like...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah141
更新日期:2005-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax044
更新日期:2017-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam007
更新日期:2007-05-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq081
更新日期:2011-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav013
更新日期:2015-06-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap045
更新日期:2009-10-01 00:00:00
abstract::We have previously shown that the estrogen responsiveness of the human lactoferrin gene in a transient transfection system is mediated through an imperfect estrogen response element (ERE) and a steroidogenic factor 1 binding element (SFRE) 26 bp upstream from ERE. Reporter constructs containing SFRE and ERE respond to...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.1.58
更新日期:2002-01-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar036
更新日期:2011-11-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal054
更新日期:2006-07-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal088
更新日期:2006-12-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.3.241
更新日期:1997-03-01 00:00:00