Abstract:
:We have entered a new era of genomics in biomedical research with the availability of genome-wide sequences and expression data, resulting in the identification of a huge number of novel reproductive genes. The challenge we are facing today is how to determine the function of those novel and known genes and their roles in normal reproductive physiology, such as gamete production, pregnancy and fertilization, and the disease physiology such as infertility, spontaneous abortion and gynecological cancers. Mouse genetics has contributed tremendously to our understanding of the genetic causes of human diseases in the past decades. The establishment of mouse mutations is an effective way to understand the function of many reproductive proteins. One of the fast-growing mouse mutagenesis technologies-gene trap mutagenesis-represents a cost-effective way to generate mutations because of the public availability of mouse embryonic stem (ES) cell lines carrying insertional mutations and the continuing expansion of those ES gene trap cell lines. We review here the gene trapping technology and in particular examine its efficacy in generating mouse mutations for reproductive research. Even with the existing gene trap cell lines, many of the genes important for reproductive function through traditional knockout and chemical mutagenesis have been trapped, demonstrating gene trapping's efficacy in mutating genes involved in reproductive development. Comparing genes expressed in specific reproductive sub-cellular organelles and in the entire testis and ovary with gene trap lines in the International Gene Trap Consortium (IGTC) database, we could identify a significant portion of those genes as having been trapped, representing a great resource for establishing mouse models for reproductive research. Establishment and analysis of these mouse models, for example, could help with identifying genetic abnormalities underlying male infertility and other reproductive diseases.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Lee T,Shah C,Xu EYdoi
10.1093/molehr/gam069subject
Has Abstractpub_date
2007-11-01 00:00:00pages
771-9issue
11eissn
1360-9947issn
1460-2407pii
gam069journal_volume
13pub_type
杂志文章abstract::Patients with endometriosis are characterized by the ability of the endometrium to implant and by the peritoneal response to the tissue; angiogenic factors may play a significant role in the aetiology of endometriosis supporting the implantation of ectopic endometrial cells. Vascular endothelial growth factor (VEGF) i...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.1.50
更新日期:2000-01-01 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::Human endometrium is the major organ that produces glycodelin A (GdA). The production of endometrial GdA causes a fluctuation of the peripheral glycodelin concentrations in women during the menstrual cycle and pregnancy. It has recently been reported that the rise of plasma concentrations of glycodelin is correlated w...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.372
更新日期:1999-04-01 00:00:00
abstract:Study Question:Can endometrial mesenchymal stromal cells (E-MSCs) differentiate into endothelial cells in an in vitro co-culture system with human umbilical vein endothelial cells (HUVECs)? Summary Answer:E-MSCs can acquire endothelial markers and function in a direct co-culture system with HUVECs. What is Known Alre...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax006
更新日期:2017-03-01 00:00:00
abstract::Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene muta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau047
更新日期:2014-09-01 00:00:00
abstract::We report here the molecular cloning and characterization of human haspin cDNA and its genomic DNA construct. The haspin protein is a unique protein kinase, first isolated from mouse testis. Specifically expressed in mouse testicular germ cells, haspin is suggested to play a role in cell cycle arrest in haploid sperma...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.3.211
更新日期:2001-03-01 00:00:00
abstract::In order to improve assisted fertilization in humans it is important to elucidate the mechanisms of control of growth and development in the early pre-embryo. Increasing evidence shows that growth factors are of importance for such control mechanisms. As platelet-derived growth factor (PDGF) has been shown to enhance ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.7.507
更新日期:1996-07-01 00:00:00
abstract::Successful intracytoplasmic sperm injection (ICSI) is dependent upon the competence of the oocyte to respond to the injection of a spermatozoon in the presence of calcium. This study determined if oocytes that failed to become fertilized (absence of any pronuclei) failed to undergo cytoplasmic activation, as ascertain...
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
abstract::The distribution and size of a surface membrane antigen identified by a monoclonal antibody (MAC9393) have been examined in testicular and epididymal bovine sperm preparations. Western blots indicated a substantial decrease in molecular mass of the antigen during epididymal maturation from approximately 87 kDa in the ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.7.673
更新日期:1998-07-01 00:00:00
abstract::Regulation of germ-cell-specific transcription is essential for the differentiation and other physiological processes of germ cells. Germ-cell-specific transcription factors, Sohlh2 and Figla, play key roles in gametogenesis. To elucidate whether an epigenetic mechanism is involved in the controlled expression of Sohl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar017
更新日期:2011-09-01 00:00:00
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 ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.11.1055
更新日期:2000-11-01 00:00:00
abstract::Mitotic centromere-associated kinesin (MCAK) is an ATP-dependent microtubule (MT) depolymerase regulated by Aurora kinase (AURK) phosphorylation and implicated in resolution of improper MT attachments in mitosis. Distribution of MCAK was studied in oocyte maturation by anti-MCAK antibody, anti-tubulin antibody, anti-A...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq025
更新日期:2010-09-01 00:00:00
abstract::The aim of this study was to determine the effects of tumour necrosis factor alpha (TNF), interleukin-1 alpha (IL-1alpha), macrophage colony-stimulating factor (MCSF) and transforming growth factor beta (TGFbeta) on the secretion of matrix metalloproteinases (MMP), human chorionic gonadotrophin (HCG) and fetal fibrone...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.3.252
更新日期:1999-03-01 00:00:00
abstract::Preeclampsia (PE) is a severe pregnancy-induced disorder characterized by hypertension and proteinuria and a leading cause of perinatal maternal-fetal mortality and morbidity in developing countries. Dysregulated human leukocyte antigen (HLA)-G was found in placentas as well as in maternal sera from PE patients; howev...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav037
更新日期:2015-09-01 00:00:00
abstract::FAF1 was initially isolated as a Fas-associated factor and was subsequently found to interact with a subset of additional proteins that are involved in many cellular events including Fas-mediated apoptosis, heat shock signalling pathways and ubiquitin-dependent processes. Here, we describe that the 74-kDa FAF1 is ubiq...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan009
更新日期:2008-04-01 00:00:00
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 ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.9.839
更新日期:2001-09-01 00:00:00
abstract:STUDY QUESTION:Are there novel hyaladherins in human sperm? SUMMARY ANSWER:Zona pellucida-binding protein 2 (ZPBP2), containing a Link-like hyaluronic acid (HA)-binding domain, and several other proteins containing BX7B motifs, such as ADAM32 and Midkine, may be novel hyaladherins with HA-binding properties. WHAT IS ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax053
更新日期:2017-12-01 00:00:00
abstract::The preimplantation period of life in mammals encompasses a tremendous amount of restructuring and remodeling of the embryonic genome and reprogramming of gene expression. These vast changes support metabolic activation and cellular processes that drive early cleavage divisions and enable the creation of the earliest ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz001
更新日期:2019-03-01 00:00:00
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
pub_type: 杂志文章
doi:10.1093/molehr/gar013
更新日期:2011-07-01 00:00:00
abstract::The transcription factor OCT-4 is regarded as a critical factor in controlling mammalian early embryonic development because of its role in toti-/pluripotency. In human preimplantation embryos, OCT-4 studies are limited to RNA analysis of abnormally developing embryos. This study thoroughly investigated the expression...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah155
更新日期:2005-03-01 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::Cytogenetically, uterine leiomyomata are the best investigated human tumours. The most frequent clonal abnormalities are structural rearrangements involving 12q14-15 and deletions of part of the long arm of chromosome 7. The present study investigated a possible growth advantage conferred by these abnormalities, when ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.12.1150
更新日期:1999-12-01 00:00:00
abstract::In humans, male and female partners contribute more or less equally to the infertility problem. In approximately 20% of infertile couples, the concurrence of male and female factors is suggested to be responsible for infertility. Neither of these factors are known nor is there a model system to prove this assumption. ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.5.434
更新日期:2002-05-01 00:00:00
abstract::Successful pregnancy in humans depends on deep invasion of the maternal decidua by extravillous trophoblast cells (EVTs), a process regulated by autocrine and paracrine signals in the decidual-trophoblast microenvironment. Here we examined whether trophoblast invasion is affected by decidual differentiation of endomet...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar015
更新日期:2011-07-01 00:00:00
abstract::The requisite endpoint of mammalian oocyte maturation, whether in vivo or in vitro, is a metaphase II oocyte which is able to be fertilized and which can eventually support normal embryonic development. Oocytes which have been matured in vivo basically fulfill these criteria. On the other hand, a completely different ...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/4.1.41
更新日期:1998-01-01 00:00:00
abstract::Interleukin (IL)-33, a newly described member of the IL-1 family, has been reported to facilitate primary tumor progression and metastatic dissemination. However, its biological function on decidual stromal cells (DSCs) remains unclear. In this study, we tested the hypothesis whether IL-33 promotes proliferation and i...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat094
更新日期:2014-04-01 00:00:00
abstract::During pregnancy, a cervical connective tissue remodelling takes place, clinically recognized as softening, effacement and dilatation. The role of oestrogens and their receptors (ER) in this process is not clear. ERalpha is a ligand-activated transcription factor involved in many physiological processes. The identific...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.3.293
更新日期:2001-03-01 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::The DAZL (DAZ-like) gene is suggested to be an ancestral gene of the DAZ (deleted in azoospermia) gene on the Y chromosome, which is a strong candidate for the azoospermic factor. Recently, it has been reported that the T54A (Thr54-->Ala) polymorphism in exon 3 of the DAZL gene is associated with spermatogenic failure...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah202
更新日期:2005-07-01 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