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 proteins (LTBP) and thereby control the bioactivity of TGFbetas. TGFbetas stimulate fibroblast replication and collagen production. The PCOS ovarian phenotype includes increased stromal collagen and expansion of the ovarian cortex, features feasibly influenced by abnormal fibrillin expression. To examine a possible role of fibrillins in PCOS, particularly FBN3, we undertook tagging and functional single nucleotide polymorphism (SNP) analysis (32 SNPs including 10 that generate non-synonymous amino acid changes) using DNA from 173 PCOS patients and 194 controls. No SNP showed a significant association with PCOS and alleles of most SNPs showed almost identical population frequencies between PCOS and control subjects. No significant differences were observed for microsatellite D19S884. In human PCO stroma/cortex (n = 4) and non-PCO ovarian stroma (n = 9), follicles (n = 3) and corpora lutea (n = 3) and in human ovarian cancer cell lines (KGN, SKOV-3, OVCAR-3, OVCAR-5), FBN1 mRNA levels were approximately 100 times greater than FBN2 and 200-1000-fold greater than FBN3. Expression of LTBP-1 mRNA was 3-fold greater than LTBP-2. We conclude that FBN3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs and that this may be influencing the PCOS phenotype.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Prodoehl MJ,Hatzirodos N,Irving-Rodgers HF,Zhao ZZ,Painter JN,Hickey TE,Gibson MA,Rainey WE,Carr BR,Mason HD,Norman RJ,Montgomery GW,Rodgers RJdoi
10.1093/molehr/gap072subject
Has Abstractpub_date
2009-12-01 00:00:00pages
829-41issue
12eissn
1360-9947issn
1460-2407pii
gap072journal_volume
15pub_type
杂志文章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
abstract::Follicular fluid proteoglycans play an important role in human oocyte maturation, including the development of a fluid-filled compartment and maintenance of the hypocoagulative state of the follicular fluid. Human xylosyltransferase (EC 2.4.2.26, XT) is the key enzyme in the biosynthesis of glycosaminoglycan chains in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.12.1079
更新日期:2002-12-01 00:00:00
abstract:STUDY HYPOTHESIS:What factors in mouse oocytes are involved in the ageing-related decline in oocyte quality? STUDY FINDING:The maternal effect gene Mater is involved in ageing-related oocyte quality decline in mice. WHAT IS KNOWN ALREADY:Premature loss of centromere cohesion is a hallmark of ageing-related oocyte qua...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw001
更新日期:2016-04-01 00:00:00
abstract::Although available data from the mouse model suggest that morphogenesis during preimplantation development is dependent on the expression of embryonic genes, convincing data for human preimplantation embryos are missing. To investigate the expression of genes involved in human preimplantation development we constructe...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.6.571
更新日期:1998-06-01 00:00:00
abstract::Microarray studies generating lists of genes with altered expression in placentas from pregnancies complicated with pre-eclampsia (PE) have so far been published in several different studies. Working under the assumption that altered gene expression in PE may be the result of altered expression of regulatory transcrip...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal001
更新日期:2006-01-01 00:00:00
abstract::An understanding of the relationship between nuclear morphology and DNA function is important in cytology and preimplantation diagnosis. In this study, direct polymerase chain reaction (PCR) amplification was used to diagnose the common delta F508 mutation of cystic fibrosis in 62 biopsied human embryo cells. The nucl...
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
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::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
abstract::Although many candidate genes have been studied in pre-eclampsia (PE), the important class of catecholamine receptors that contribute to sympathetic tone and blood pressure regulation has yet to be investigated. We therefore examined the dopamine D4 receptor (DRD4) gene. We performed a prospective family-based study i...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal004
更新日期:2006-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.9.755
更新日期:1997-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau006
更新日期:2014-05-01 00:00:00
abstract::Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.9.789
更新日期:2000-09-01 00:00:00
abstract::Idiopathic fetal growth restriction (FGR) is often associated with placental insufficiency. Previously, we isolated and characterized homeobox gene DLX4 from the placenta and provided evidence that DLX4 may regulate placental development. Here, we have investigated whether DLX4 expression levels were altered in idiopa...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal087
更新日期:2006-12-01 00:00:00
abstract::Ovarian surface epithelial (OSE) cells participate in the formation of the ovarian cortex and are potential targets of oestrogen action. Oestrogens typically act through nuclear oestrogen receptors (ER) of which there are two known subtypes: ERalpha and ERbeta. In view of the potential importance of oestrogen as a loc...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.8.811
更新日期:1998-08-01 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::PKDREJ is a testis-specific protein thought to be located on the sperm surface. Functional studies in the mouse revealed that loss of PKDREJ has effects on sperm transport and the ability to undergo an induced acrosome reaction. Thus, PKDREJ has been considered a potential target of post-copulatory sexual selection in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau095
更新日期:2015-02-01 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::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::Mitochondrial DNA (mtDNA) deletions are present in both human oocytes and embryos. It has been found that these tissues contain a mtDNA mutation which is present in high amounts in patients with Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia. In the present study, the frequency of this KSS deleti...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.9.887
更新日期:1998-09-01 00:00:00
abstract::Folate deficiency has been linked to a wide range of pregnancy disorders. Most research about folate-deficiency has focused on the embryo itself, little attention has been paid to possible effects on the placenta. According to our results, the morphology of the placenta, endocrine function, and the expression of genes...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz022
更新日期:2019-06-06 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::Virtually all testicular germ cell tumours originate from a common precursor, the carcinoma in situ (CIS) cell. The precise nature of the molecular mechanisms leading to CIS remains largely unknown. We performed the first systematic analysis of gene expression in testis with CIS compared to normal testis by the differ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah059
更新日期:2004-06-01 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: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::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:STUDY QUESTION:What is the prevalence, reproducibility and biological significance of transcriptomic differences between sister blastomeres of the mouse 2-cell embryo? SUMMARY ANSWER:Sister 2-cell stage blastomeres are distinguishable from each other by mRNA analysis, attesting to the fact that differentiation starts ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gay021
更新日期:2018-07-01 00:00:00
abstract::Prostaglandins (PG) E2 and F2 alpha are produced by the human corpus luteum in significant amounts and they are known to exert local luteotrophic and luteolytic effects respectively. The present study determined how PGE2 and PGF2 alpha are involved in the regulation of inhibin A, a granulosa cell-derived glycoprotein ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.11.815
更新日期:1996-11-01 00:00:00
abstract::Patients with rare overgrowth disorders, such as Beck-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome, are predisposed to embryonal tumours, including Wilms' tumour of the kidney. Therefore, these disorders offer a link between hyperplastic growth and cancer. Genetic lesions at chromosome 11p15 have been associa...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/3.2.157
更新日期:1997-02-01 00:00:00
abstract::The expression of adhesion molecules and matrix proteins by human spermatozoa as well as their binding to and penetration of zona-free hamster eggs were investigated in 17 patients by means of flow cytometry. Both binding and penetration of hamster oocytes and expression of alpha- and beta-chains of beta 1, beta 3 and...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.5.335
更新日期:1996-05-01 00:00:00
abstract:STUDY QUESTION:What is the acceptability of using stem cell-based fertility treatments (SCFT) for different indications according to gynaecologists and the general public? SUMMARY ANSWER:The majority of gynaecologists and the general public accept SCFT for the indications female or male infertility in young heterosexu...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax027
更新日期:2017-12-01 00:00:00