• Females
  • Females manifest phenotypes despite 100% skewing of X-inactivation and normal MECP2 RNA levels in peripheral blood. (pubmedcentralcanada.ca)
  • Partial or complete reactivation of the inactive X in females may be a step in breast and ovarian cancer progression, leading to overexpression of some tumour enhancing gene. (ubc.ca)
  • X chromosome inactivation occurs in females to provide dosage compensation between the sexes. (wikipedia.org)
  • All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a mosaic pattern of cells in females. (wikipedia.org)
  • This suggested to Ernest Beutler, studying heterozygous females for Glucose-6-phosphate dehydrogenase (G6PD) deficiency, that there were two red cell populations of erythrocytes in such heterozygotes: deficient cells and normal cells, depending on whether the inactivated X chromosome contains the normal or defective G6PD allele. (wikipedia.org)
  • Normal females possess two X chromosomes, and in any given cell one chromosome will be active (designated as Xa) and one will be inactive (Xi). (wikipedia.org)
  • This indicates that the default state of the X chromosome in females is inactivation, but one X chromosome is always selected to remain active. (wikipedia.org)
  • From a 2018 study on a final sample of two hundred and forty nine graduate and undergraduate students from Warwick University, proportionally balanced by gender: Males: mean 0.951, standard deviation 0.035 Females: mean 0.968, standard deviation 0.028 Women with congenital adrenal hyperplasia (CAH), which results in elevated androgen levels before birth, have lower, more masculinized 2D:4D on average. (wikipedia.org)
  • In individuals with Klinefelter's syndrome (females: XXX, males: XXY) the extra X-chromosome is inactivated, resulting in two bar bodies. (wikipedia.org)
  • Females typically have two X chromosomes. (wikipedia.org)
  • HUMARA
  • HUMARA gene, in particular, has three important features that make it highly convenient for the purpose. (wikipedia.org)
  • Thanks to these qualities of HUMARA gene, clonal origin of any tissue from a female mammalian organism can be determined. (wikipedia.org)
  • 3-) DNA is cleaned and the certain region of HUMARA gene is amplified by PCR using "suitable" primers (as an example, please see:Ref.2) 4-) After running PCR products through a gel, the gel is visualized and the results are analyzed accordingly. (wikipedia.org)
  • Table 1 Reported concordance of X-chromosome inactivation patterns in multifocal papillary thyroid carcinoma by HUMARA Although many investigators in the field of thyroid pathology are interested in Dovitinib Dilactic acid the pathogenesis of multifocal PTCs, the principal mechanism responsible for multifocal PTCs must still be decided. (immune-source.com)
  • testosterone
  • Testosterone has high affinity for ZIP9 with a Kd of 14 nM and acts as an agonist of the receptor. (wikipedia.org)
  • In contrast, the other endogenous androgens dihydrotestosterone (DHT) and androstenedione show low affinity for the receptor with less than 1% of that of testosterone, although DHT is still effective in activating the receptor at sufficiently high concentrations. (wikipedia.org)
  • Cerebral cortex has a very large number of testosterone receptors, which could be a basis for sex differences in sensory functions. (pubmedcentralcanada.ca)
  • Of all major sensory systems only vision has not been examined for sex differences, which is surprising because occipital lobe (primary visual projection area) may have the highest density of testosterone receptors in the cortex. (pubmedcentralcanada.ca)
  • It has been suggested by some scientists that the ratio of two digits in particular, the 2nd (index finger) and 4th (ring finger), is affected by exposure to androgens, e.g., testosterone while in the uterus and that this 2D:4D ratio can be considered a crude measure for prenatal androgen exposure, with lower 2D:4D ratios pointing to higher prenatal androgen exposure. (wikipedia.org)
  • Males with CAH have more masculine (smaller) digit ratios than control males, which also suggests that prenatal androgens affect digit ratios, since amniocentesis samples show that prenatal levels of testosterone are in the high normal range in males with CAH, while levels of the weaker androgen androstenedione are several fold higher than in control males. (wikipedia.org)
  • It specifically acts to up-regulate the enzyme cholesterol side chain cleaving enzyme, which leads to the greater conversion of cholesterol into androgen precursors required to make many steroid hormones, including testosterone and estrogens. (wikipedia.org)
  • clonal
  • Two of three evaluable cases had a monoclonal pattern of inactivation, and the third case had a clonal expansion of cells with an altered microsatellite repeat sequence. (nih.gov)
  • LOH and X-chromosome inactivation assays show that the coexisting tumors in many cases of multifocal urothelial carcinoma have a unique clonal origin and arise from independently transformed progenitor urothelial cells, supporting the "field effect" theory for urothelial carcinogenesis. (aacrjournals.org)
  • exhibited that a distinct allele of the X-chromosome was inactivated in different tumor foci in three out of eight cases with multifocal PTC, suggesting independent clonal origins of these foci 13. (immune-source.com)
  • transcriptional
  • This was an unexpected finding which suggests that MeCP2 is a key transcriptional regulator with potentially dual roles in gene expression. (wikipedia.org)
  • genetic
  • In this study, molecular analysis of microsatellite alterations and X-chromosome inactivation status in separate urothelial carcinomas from the same patient was used to assess the molecular genetic relationships among the multiple coexisting tumors. (aacrjournals.org)
  • For an individual cell or lineage the inactivation is therefore skewed or 'non-random', and this can give rise to mild symptoms in female 'carriers' of X-linked genetic disorders. (wikipedia.org)
  • XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male but genetically female. (wikipedia.org)
  • endogenous
  • Moreover, the synthetic androgens mibolerone and metribolone (R-1881), the endogenous androgen 11-ketotestoterone, and the other steroid hormones estradiol and cortisol are all ineffective competitors for the receptor. (wikipedia.org)
  • multifocal
  • A more recent study showed a high frequency of the same inactivation pattern (nine of 11 cases), which suggests that individual tumors arise from a single clone and that intraglandular metastasis may play an important role in the formation of multifocal PTCs 12. (immune-source.com)
  • somatic
  • Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • Queen's University, 2003 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE STUDIES (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA November 2007  Sara Helen Alison Harbord, 2007 ii Abstract Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • In the somatic cells of a developing female child, one of the X-chromosomes is shortened and condensed. (wikipedia.org)
  • human
  • At approximately the time of implantation (see Implantation (human embryo)), one of the two X chromosomes in each cell of the female embryo is randomly selected for inactivation. (wikipedia.org)
  • An apportionment of human gene expression variation 38. (ufl.edu)
  • ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. (wikipedia.org)
  • Cloning and Characterization of Human Prostate Coactivator ARA54, a Novel Protein that Associates with the Androgen Receptor. (slidesfinder.com)
  • PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. (slidesfinder.com)
  • Gene knockdown of Oct-4 promotes differentiation, thereby demonstrating a role for these factors in human embryonic stem cell self-renewal. (wikipedia.org)
  • The human TUBB3 gene is located on chromosome 16q24.3, and consists of 4 exons that transcribe a protein of 450aa. (wikipedia.org)
  • The human CCNDI gene is located on the long arm of chromosome 11 (band 11q13). (wikipedia.org)
  • The human genome consists of two copies of each of 23 chromosomes (a total of 46). (wikipedia.org)
  • The sex chromosome in a human egg is always an X chromosome, since a female only has X sex chromosomes. (wikipedia.org)
  • The human LXRα gene is located on chromosome 11p11.2, while the LXRβ gene is located on chromosome 19q13.3. (wikipedia.org)
  • Crystal structure of human liver X receptor β(LXRβ) forming heterodimer with its partner retinoid X receptor α(RXRα) on its cognate element, an AGGTCA direct repeat spaced by 4 nt shows an extended X-shaped arrangement, with DNA- and ligand-binding domains crossed, in contrast to the parallel domain arrangement of other NRs that bind an AGGTCA direct repeat spaced by 1 nt. (wikipedia.org)
  • tissue
  • Considering the fact that once one X chromosome is inactivated in a cell, all other cells derived from it will have the same X chromosome inactivated, this approach becomes a great tool to differentiate a monoclonal population from a polyclonal one in a female tissue. (wikipedia.org)
  • Thus, when DNA from a healthy female tissue is amplified by PCR for a specific region of the gene, two separated bands can be seen on the gel. (wikipedia.org)
  • Researchers hypothesized a link between the slight preference for inactivation of the paternal X in mice tissue, and the preference in extra-embryonic tissue and Marsupials. (wikipedia.org)
  • ZIP9 membrane androgen receptor was first discovered in Atlantic croaker (Micropogonias undulatus) brain, ovary and testicular tissues and named "AR2" in 1999, together with another androgen receptor which was found only in brain tissue, and it was named "AR1" in that time. (wikipedia.org)
  • Synthetic LXR agonist GW3965 improves glucose tolerance in a murine model of diet-induced obesity and insulin resistance by regulating genes involved in glucose metabolism in liver and adipose tissue. (wikipedia.org)
  • syndrome
  • Klinefelter syndrome is characterized by the presence of an extra (one or more) X chromosome in male individuals, giving a 47,XXY rather than 46,XY karyotype. (clinicalpainadvisor.com)
  • A karyotype, or chromosome analysis, should be ordered if Klinefelter syndrome is suspected. (clinicalpainadvisor.com)
  • The role of MECP2 in disease is primarily associated with either a loss of function (under expression) of the MECP2 gene as in Rett syndrome or in a gain of function (over expression) as in MECP2 Duplication Syndrome. (wikipedia.org)
  • 47,XXY males - see Klinefelter syndrome below 48, XXXX (also known as tetrasomy X, quadruple X, and XXXX syndrome) - A condition that describes a female with two extra female chromosomes. (wikipedia.org)
  • In 90% of these individuals the syndrome is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, and results in the X chromosome containing the SRY gene, as opposed to the Y chromosome where it is normally found. (wikipedia.org)
  • DAX1
  • DAX1 represses masculinizing genes, therefore, if there is a loss of function of DAX1 then testes can develop in an XX individual. (wikipedia.org)
  • congenital
  • The most common DSD is congenital adrenal hyperplasia (CAH), which results in a person with female (XX) chromosomes having genitals that look somewhat masculine. (wikipedia.org)
  • complementary
  • The complementary result for the X-chromosome follows, either a double or a single X. Therefore, direct sex differences are usually binary in expression (although the deviations in complex biological processes produce a menagerie of exceptions). (wikipedia.org)
  • activates
  • Upon binding of LH to the external part of the membrane spanning receptor, a transduction of the signal takes place that activates the G protein that is bound to the receptor internally. (wikipedia.org)
  • With LH attached, the receptor shifts conformation and thus mechanically activates the G protein, which detaches from the receptor and activates the cAMP system. (wikipedia.org)
  • thus
  • 5 CTCF was shown to be involved in X chromosome counting, the first step of XCI, along with non-coding RNA Jpx , and thus haploinsufficiency of CTCF would result in aberrant XCI. (bmj.com)
  • The extraembryonic tissues (which give rise to the placenta and other tissues supporting the embryo) retain this early imprinted inactivation, and thus only the maternal X chromosome is active in these tissues. (wikipedia.org)
  • One explanation for this disparity is that over 25%[citation needed] of genes on the inactivated X chromosome remain expressed, thus providing women with added protection against defective genes coded by the X-chromosome. (wikipedia.org)
  • During this period if the fetus is exposed to androgens, the exact level of which is thought to be sexually dimorphic, the growth rate of the 4th digit is increased, as can be seen by analyzing the 2D:4D ratio of opposite sex dizygotic twins, where the female twin is exposed to excess androgens from her brother in utero, and thus has a significantly lower 2D:4D ratio. (wikipedia.org)
  • binds
  • Cyclin D1 also binds to histone acetylases and histone deacetylases to regulate cell proliferation and cell differentiation genes in the early to mid-G1 phase. (wikipedia.org)
  • After activation, LXR binds to LXR response element (LXRE), usually a variant of the idealized sequence AGGTCAN4AGGTCA, in the promoters of LXRs' target genes. (wikipedia.org)
  • expression
  • Expression levels of 8 X-linked genes were assessed by real-time PCR. (ubc.ca)
  • Expression was inconsistent between different genes and among cell lines, ranging from a 2 to 300-fold increase compared to a control. (ubc.ca)
  • Overall, expression was greatly increased for genes subject to inactivation but not increased in genes that escape inactivation for most ovarian cancer cell lines. (ubc.ca)
  • The second is that Xce acts as a binding site for dosage factors that will affect XIST gene and Tsix expression (long non-coding RNAs involved in X chromosome inactivation). (wikipedia.org)
  • Differential gene expression inside and out. (ufl.edu)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • The influx of calcium ions into the cell can initiate a myriad of calcium-dependent processes including muscle contraction, gene expression, and secretion. (wikipedia.org)
  • This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. (wikipedia.org)
  • membrane
  • A study in 2014 utilised the latest research technologies to clone and express a particular cDNA of the female Atlantic croaker ovaries, which encoded a protein showing the characteristics of the canonical isoform of ZIP9, as a novel membrane androgen receptor(mAR). (wikipedia.org)
  • Like other GPCRs, the LHCG receptor possess seven membrane-spanning domains or transmembrane helices. (wikipedia.org)
  • Upregulation refers to the increase in the number of receptor sites on the membrane. (wikipedia.org)
  • PTEN
  • Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available. (wikipedia.org)
  • in fact, up to 70% of men with prostate cancer are estimated to have lost a copy of the PTEN gene at the time of diagnosis. (wikipedia.org)
  • loci
  • MeCP2 has been implicated in regulation of imprinted genes and loci that include UBE3A and DLX5. (wikipedia.org)
  • inactive
  • One sample did not localize XIST to the inactive X and three of five genes subject to inactivation were overexpressed. (ubc.ca)
  • The inactive X chromosome is silenced by its being packaged in such a way that it has a transcriptionally inactive structure called heterochromatin. (wikipedia.org)
  • It is believed that a receptor molecule exists in a conformational equilibrium between active and inactive states. (wikipedia.org)
  • The binding of LH (or CG) to the receptor shifts the equilibrium between active and inactive receptors. (wikipedia.org)
  • protein encoded by this gene
  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. (wikipedia.org)
  • The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. (wikipedia.org)
  • highly conserved
  • SRY is a quickly evolving gene and its regulation has been difficult to study because sex determination is not a highly conserved phenomenon within the animal kingdom. (wikipedia.org)
  • These transmembrane domain contains two highly conserved cysteine residues, which build disulfide bonds to stabilize the receptor structure. (wikipedia.org)