Abstract:
:Imprinted genes are characterized by expression of only one of the two alleles according to its inheritance from the mother or the father. This mono-allelic expression must arise from primary differential epigenetic modification of the parental alleles of the imprinted gene in the spermatozoon and the oocyte. Most of the information on the onset of imprinted gene expression, and on the molecular mechanisms regulating mono-allelic expression, have been derived from studies in the mouse. In this paper, we investigate the expression of seven imprinted genes in human preimplantation development. Due to limitations imposed by the rarity of human embryos available for research, our approach has been to screen amplified cDNA preparations prepared from human unfertilized oocytes and individual embryos at each of the 4-cell, 8-cell and blastocyst stages. Gene-specific primers were used to investigate expression of the imprinted genes by polymerase chain reaction (PCR) analysis of these amplified cDNA. We found that expression is inherently variable in the amplified cDNA from embryo to embryo but the use of several samples at each stage showed that the SNRPN, UBE3A and PEG1 genes are expressed throughout human preimplantation development. This was confirmed by direct analysis by gene-specific reverse transcription-PCR on a limited number of lysed embryos (one gene analysed per embryo). Thus, the amplified cDNA may be used to rapidly identify those imprinted genes expressed in preimplantation development and, hence, those genes amenable to investigation of the epigenetic mechanisms regulating mono-allelic expression. Confirmation of preimplantation expression also identifies those imprinted diseases amenable to preimplantation diagnosis, and the imprinted genes which may be used in assessment of possible perturbations of imprinting following new procedures in assisted reproduction. Our series of single embryo amplified cDNA are established as a valuable resource for comparative studies of gene expression within one embryo and between embryos throughout early human development. The amplified cDNA thus circumvent the need for a continuous supply of human embryos for studies on embryonic gene expression.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Salpekar A,Huntriss J,Bolton V,Monk Mdoi
10.1093/molehr/7.9.839subject
Has Abstractpub_date
2001-09-01 00:00:00pages
839-44issue
9eissn
1360-9947issn
1460-2407journal_volume
7pub_type
杂志文章abstract:STUDY QUESTION:How does hCG signal in human endometrial stromal cells (ESCs) and what is its role in regulating ESC function? SUMMARY ANSWER:hCG signaling in ESCs activates the extracellular signal-regulated protein kinases 1 and 2 (Erk1/2) pathway through exchange protein activated by cyclic AMP (cAMP) (Epac) and tra...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax015
更新日期:2017-06-01 00:00:00
abstract::Recurrent pregnancy loss (RPL) is a common and distressing disorder. Chromosomal errors in the embryo are the single most common cause, whereas uterine factors are invariably invoked to explain non-chromosomal miscarriages. These uterine factors are, however, poorly defined. The ability of a conceptus to implant in th...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gaq079
更新日期:2010-12-01 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::Fluorescent in situ hybridization (FISH) studies of human preimplantation embryos have demonstrated a high proportion of chromosomal mosaicism. To investigate the different timings and nature of chromosomal mosaicism, we developed single cell multiplex fluorescent (FL)-PCR to distinguish meiotic and mitotic cell divis...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah017
更新日期:2004-02-01 00:00:00
abstract::During early gestation, a considerable increase in different leukocyte subsets can be observed in the decidualized endometrium concomitantly to the invasion of cytotrophoblast cells (CTB). To date, it is still in question which factors induce this accumulation of immune cells and whether it is evoked by an in situ pro...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat005
更新日期:2013-06-01 00:00:00
abstract::Recombinant human ZP3 (rhuZP3) generated by Chinese hamster ovary cells transfected with a plasmid containing human ZP3 cDNA was used to study the acrosome reaction (AR) and intracellular calcium fluxes in capacitated human spermatozoa. Conditioned medium containing rhuZP3 significantly induced the AR (P < or = 0.005)...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.8.583
更新日期:1996-08-01 00:00:00
abstract::Within the context of an oocyte in vitro maturation (IVM) program for reproductive treatment, oocyte cumulus complexes (COCs) derived from follicles <6 mm in patients with PCOS were matured in vitro. Key transcripts related to meiotic maturation (FSHR, LHCGR, EGFR, PGR) and oocyte competence (AREG, ADAMTS, HAS2, PTGS2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gas038
更新日期:2013-01-01 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::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::Chemokines are implicated in the implantation process. The aim of this study was to investigate mRNA expression and protein levels of chemokine receptors CXCR1, CXCR4, CCR5 and CCR2B in human endometrium throughout the menstrual cycle, during HRT and in the human blastocyst. The regulation of chemokine receptors in th...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag024
更新日期:2003-04-01 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
abstract::Human endometrial stromal cells (ESC) can produce a variety of chemokines, especially after inflammatory stimulation. Interferon-gamma-inducible protein-10 (IP-10) is a potent chemoattractant for lymphocytes, and belongs to the family of non-ELR CXC chemokines. The expression of IP-10 in ESC after stimulation with int...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.2.176
更新日期:2002-02-01 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:STUDY QUESTION:Does a heterozygous mutation in AMHR2, identified in whole-exome sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in anti-Müllerian hormone (AMH) signaling? SUMMARY ANSWER:The I209N mutation at the adenosine triphosphate binding domain of AMHR2 exerts dominant negat...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw040
更新日期:2016-09-01 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::Stress-activated protein kinase/c-Jun kinase (SAPK/JNK) is thought to be necessary for preimplantation embryonic development (Maekawa et al., 2005). However, media increases SAPK/JNK phosphorylation and these levels negatively correlate with embryonic development (Wang et al., 2005). Culture-induced stress could confu...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal021
更新日期:2006-04-01 00:00:00
abstract::Oxidative stress is a major aetiology in many pathologies, including that of male infertility. Recent evidence in somatic cells has linked oxidative stress to the induction of a novel cell death modality termed ferroptosis. However, the induction of this iron-regulated, caspase-independent cell death pathway has never...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz015
更新日期:2019-05-01 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::Controlling the sex of offspring by the separation of X and Y chromosome-bearing spermatozoa using flow cytometry has been reported as a clinical technique aiding prevention of X-linked diseases. Although this technique has resulted in several hundred normal births in animals and at least one human birth, there is sti...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.9.821
更新日期:1997-09-01 00:00:00
abstract::Previous studies have implicated receptor tyrosine kinases in progesterone-induced [Ca2+]i signalling, and consequent induction of the acrosome reaction, in human spermatozoa. We have investigated the effects of tyrosine kinase inhibition on [Ca2+]i responses in large numbers of individual human spermatozoa. Genistein...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.4.326
更新日期:2002-04-01 00:00:00
abstract::Mouse cauda epididymis were in-vivo transfected using the lipid FuGENE 6 as gene vector. Two gene constructions were employed: the p-GeneGRIP which codifies for the Green Fluorescent Protein (GFP) and the pSEAP-control that expresses an alkaline phosphatase as a secretion. Transfection was detected by fluorescence and...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap026
更新日期:2009-06-01 00:00:00
abstract::A major challenge in the comprehension of the endometrial transformations leading to the completion of each menstrual cycle in humans is in the identification of specific molecular pathways underlying these monthly turnovers. Towards this goal we compared, by the differential display technique, the relative expression...
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
abstract::We have previously reported that endometrial expression of matrix metalloproteinase (MMP)-26 mRNA comes to a maximum in the early secretory phase. Since tissue inhibitor of metalloproteinase (TIMP)-4 is a potent inhibitor of MMP-26, the objective of this study was to identify the pattern of TIMP-4 mRNA expression in t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah092
更新日期:2004-09-01 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::An altered inflammatory activity due to functionally relevant polymorphisms of the innate immune system may influence pathways leading to labour and, therefore, impact on the frequency of preterm birth. We examined five polymorphisms of the innate immune system in a large cohort of preterm very-low-birth-weight (VLBW,...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah120
更新日期:2004-12-01 00:00:00
abstract::We report here the molecular cloning and characterization of a novel human actin capping protein alpha3 (cpalpha3) cDNA, an orthologue of the mouse male germ cell-specific cpalpha3, and the organization of the human cpalpha3 genomic structure. The entire coding region of the human cpalpha3 cDNA showed 82.1% similarity...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.6.531
更新日期:2002-06-01 00:00:00
abstract::Development of uterine glands (adenogenesis) in mammals typically begins during the early post-natal period and involves budding of nascent glands from the luminal epithelium and extensive cell proliferation in these structures as they grow into the surrounding stroma, elongate and mature. Uterine glands are essential...
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
abstract::Fetal membranes overlying the cervix in patients prior to and during labour, and within the rupture tear after spontaneous delivery at term, exhibit altered morphology. In this study we report that in comparison to mid-zone fetal membranes biopsies, these regions are characterized by increased expression of the matric...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.5.463
更新日期:2001-05-01 00:00:00
abstract::Microdeletions within the AZF (azoospermia factor) a, b and c regions of the Y chromosome can be detected worldwide in 1-10% of infertile men. AZFc, containing genes such as DAZ, CDY, RBMY and others, is most frequently deleted and associated with oligo- or azoospermia. The function of the different genes within AZFc ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.8.702
更新日期:2002-08-01 00:00:00
abstract::Cytokines are important regulators of reproductive functions. Significant amounts of interleukin-6 (IL-6) have been detected in the serum and ascites of patients with ovarian hyperstimulation syndrome (OHSS). These findings suggest the involvement of IL-6 as a mediator in the pathogenesis of OHSS. This study was perfo...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.11.1071
更新日期:1998-11-01 00:00:00