Abstract:
:Analysis of small numbers of chromosomes using interphase fluorescent in-situ hybridization (FISH) probes has revealed that 50% of human preimplantation embryos contain abnormal cells. Detection of high levels of mosaicism with so few probes has led some researchers to extrapolate that a full analysis of all 23 pairs of chromosomes would reveal that all human embryos contain a proportion of abnormal cells. However, existing cytogenetic protocols cannot achieve such an analysis due to technical limitations. We have developed a novel technique based on whole genome amplification and comparative genomic hybridization (CGH), which for the first time allows the copy number of every chromosome to be assessed in almost every cell of a cleavage-stage embryo. We have successfully analysed 64 cells (blastomeres) derived from 12 embryos and have detected unusual forms of aneuploidy, high levels of chromosomal mosaicism, non-mosaic aneuploidy and chromosome breakage. This is the first report of a comprehensive assessment of chromosome copy number in human embryos and indicates that, despite high levels of mosaicism, some embryos do have normal chromosome numbers in every cell. Such embryos may have a superior developmental potential, and their low frequency may explain correspondingly low success rates of natural and assisted conception in humans.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Wells D,Delhanty JDdoi
10.1093/molehr/6.11.1055subject
Has Abstractpub_date
2000-11-01 00:00:00pages
1055-62issue
11eissn
1360-9947issn
1460-2407journal_volume
6pub_type
杂志文章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
abstract:STUDY QUESTION:What is the association between placental formyl peptide receptor 2 (FPR2) and trophoblast and endothelial functions in pregnancies affected by foetal growth restriction (FGR)? SUMMARY ANSWER:Reduced FPR2 placental expression in idiopathic FGR results in significantly altered trophoblast differentiation...
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
abstract::A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. S...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam079
更新日期:2008-01-01 00:00:00
abstract::Polar body emission is a specialized cell division throughout the animal kingdom, serving to reduce chromosome ploidy while preserving the egg cytoplasm. Critical to polar body emission are the asymmetric positioning of the meiotic spindle prior to anaphase, with one pole attached to the oocyte cortex, and the simulta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar026
更新日期:2011-05-01 00:00:00
abstract::Several studies have demonstrated an association between polycystic ovary syndrome (PCOS) and the dinucleotide repeat microsatellite marker D19S884, which is located in intron 55 of the fibrillin-3 (FBN3) gene. Fibrillins, including FBN1 and 2, interact with latent transforming growth factor (TGF)-beta-binding protein...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap072
更新日期:2009-12-01 00:00:00
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 b...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap083
更新日期:2010-02-01 00:00:00
abstract::The human egg may only be fertilized by one spermatozoon to prevent polyploidy. In most mammals, the primary block to polyspermy occurs at the zona pellucida (ZP). Little is known of the human ZP and the changes occurring following fertilization to prevent polyploidy. Using antibodies directed against synthetic peptid...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.6.534
更新日期:1999-06-01 00:00:00
abstract::Prevention of mitochondrial DNA (mtDNA) diseases may currently be possible using germline nuclear transfer (NT). However, scientific evidence to compare efficiency of different NT techniques to overcome mtDNA diseases is lacking. Here, we performed four types of NT, including first or second polar body transfer (PB1/2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz062
更新日期:2019-12-01 00:00:00
abstract::Etoposide is widely used in the treatment of patients with testicular cancer. The mechanism underlying apoptosis induction in cancer cells has been studied in different cell types, but it is not known whether the same factors participate in viable germ cells undergoing programmed cell death. Since testicular cancer pr...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap024
更新日期:2009-06-01 00:00:00
abstract::Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.10.978
更新日期:1998-10-01 00:00:00
abstract::We compared latent TGF-ss binding protein-1 (LTBP-1) and fibrillin-1 (FBN-1) expression in leiomyomata and myometrium, correlated with leiomyomata size. We studied in vivo and in vitro effects of ovarian steroids using matched leiomyomata and myometrium samples from both phases of the menstrual cycle. Leiomyomata were...
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
abstract::Ascorbic acid serves a vital role as a pre-eminent antioxidant. In animals, it has been shown to be concentrated in granulosa and theca cells of the follicle, in luteal cells of the corpus luteum, and in the peripheral cytoplasm of the oocyte. We have previously identified hormonally-regulated ascorbic acid transporte...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.299
更新日期:1999-04-01 00:00:00
abstract::We investigated the expression of methyl transferase G9a and methylated histone H3-K9 in fresh human decidual/endometrial tissue of 12 normal early pregnancies and 15 unexplained recurrent spontaneous abortions (URSA). The samples were obtained through dilatation and curettage and collected as per strict inclusion-exc...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar038
更新日期:2011-11-01 00:00:00
abstract::In women with premature ovarian failure, fertility may be preserved by ovarian tissue culture in vitro. However, techniques for tissue culture and follicle maturation have remained suboptimal. Our aim was to characterize ovarian tissue degeneration in cultures and to establish a model for cell death research in cultur...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.3.228
更新日期:2002-03-01 00:00:00
abstract::Round spermatids contain high levels of extremely varied mRNAs that are synthesized either throughout early spermatogenesis or during spermiogenesis from the haploid genome. Concomitantly, with major changes in the chromatin organization, arrest of transcription occurs at midspermiogenesis. However, previous investiga...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah137
更新日期:2005-02-01 00:00:00
abstract::Surfactant protein D (SP-D) plays a role in innate immunity against various pathogens and in vivo studies have demonstrated that SP-D also has anti-inflammatory properties. SP-D was originally demonstrated in alveolar type II cells, but recent studies have shown extrapulmonary expression of SP-D indicating a systemic ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah022
更新日期:2004-03-01 00:00:00
abstract::Successful embryo implantation depends on the quality of the embryo, as well as on the receptivity of the endometrium. The aim of this study was to investigate the endometrial gene expression profile in women with unexplained infertility in comparison with fertile controls at the time of embryo implantation in order t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap102
更新日期:2010-03-01 00:00:00
abstract::The signals initiating the growth of primordial follicles are unknown. Growth factors such as neurotrophin 4/5 (NT-4/5) and brain-derived neurotrophic factor (BDNF) may play a role in this process. To investigate the expression of NT-4/5 and BDNF and their receptor tyrosine kinase B (TrkB) in the early developing foll...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal033
更新日期:2006-06-01 00:00:00
abstract::The molecular mechanism of stress-associated reproductive dysfunction is complex and largely unknown. This study was designed to systematically analyze molecular effects of systemic in vivo blockade of α1-adrenergic receptors (α1-ADRs) on stress-induced disturbance of cAMP/cGMP signaling in testosterone-producing Leyd...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat052
更新日期:2014-01-01 00:00:00
abstract:STUDY HYPOTHESIS:In women with preterm premature rupture of the membranes (PPROM), increased oxidative stress may accelerate premature cellular senescence, senescence-associated inflammation and proteolysis, which may predispose them to rupture. STUDY FINDING:We demonstrate mechanistic differences between preterm birt...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav074
更新日期:2016-02-01 00:00:00
abstract::FSH is a pituitary gonadotropin that along with LH plays a key role in the regulation of gonadal function. The gonadotropic hormones are composed of two subunits, the common alpha subunit and the hormone-specific beta subunit, which determines the binding to specific receptors and induction of biological response. Unl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah198
更新日期:2005-08-01 00:00:00
abstract::The involvement of protein kinases in platelet activating factor (PAF)-induced acrosome reaction of human spermatozoa was investigated using specific inhibitors of protein kinase A (PKA), protein kinase C (PKC) and protein tyrosine kinase (PTK). PAF (10(-9)-10(-11) M) treatment of spermatozoa enhanced the acrosome rea...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.6.401
更新日期:1996-06-01 00:00:00
abstract::We have developed a competitive reverse transcription-polymerase chain reaction (RT-PCR) sensitive enough to detect and quantify as little as 2-fold differences in gene expression in individual oocytes and embryos throughout human preimplantation development. This RT-PCR assay can be tailored for the examination of an...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.2.147
更新日期:2001-02-01 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::Success rate in human pregnancies is believed to be very low and sex-specific mechanisms may operate in prenatal loss. Assuming a sex-differential in prenatal loss exists, we examined genetic markers in biologically plausible targets in the HLA complex, other immune system-related and iron-regulatory genes in 388 heal...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq047
更新日期:2010-10-01 00:00:00
abstract::Glycoforms of recombinant human follicle stimulating hormone (rhFSH) (Org 32489, Puregon) were characterized using concanavalin A lectin affinity chromatography to reveal information about the internal carbohydrate complexity (extent of carbohydrate side-chain branching) of the preparations. The rhFSH glycoforms were ...
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
abstract::This study was undertaken to evaluate the effects of gamma-aminobutyric acid (GABA) and GABAergic agonists and antagonists on sperm kinematic parameters and hyperactivation, evaluated by a computer-assisted semen analysis (CASA) system, and intracellular cAMP content in 22 normozoospermic semen samples. Because of the...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.10.733
更新日期:1996-10-01 00:00:00
abstract::To mimic post-ovulatory ageing, we have extended the in vitro maturation (IVM) phase to 48 h and examined effects on (i) developmental potential, (ii) expression of a panel of developmentally important genes and (iii) gene-specific epigenetic marks. Results were compared with the 24 h IVM protocol (control) usually em...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav040
更新日期:2015-10-01 00:00:00
abstract::Vascular endothelial growth factor (VEGF) is relevant for normal pregnancy, and abnormalities in VEGF functions are associated with hypertensive disorders of pregnancy. Because there are few studies on how VEGF genetic polymorphisms affect susceptibility to pre-eclampsia (PE), and no studies on how they affect suscept...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan076
更新日期:2009-02-01 00:00:00
abstract::SUN domain proteins are integral proteins of the inner nuclear membrane and functions in linkage of the nuclear lamina to the cytoskeleton. Moreover, SUN domain proteins seem to mediate the tethering of the centrosome to the nuclear membrane, and they are involved in telomere attachment to the nuclear envelope in meio...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq099
更新日期:2011-04-01 00:00:00