Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Studies correlating quantitative aspects of the handling of dinitrophenyl guinea pig albumin (DNP-GPA) by guinea pig macrophages with the potential of cell-associated antigen to initiate proliferation of immune T lymphocytes have examined the nature of immunologically relevant antigen. After the loss of 75% of cell-bound DNP-GPA during the first 24 hr of in vitro culture, the remaining antigen persists qualitatively unchanged throughout further culture. However, coincident immunogenicity of the macrophage-associated NDP-GPA progressively deccreases, suggesting loss of accessibility of the antigen to responding immune lymphocytes. There is a small, stable, surface antigen pool but these studies suggest that the immunologically critical fraction of DNP-GPA, as regards guinea pig T cell activation, is resistant to trypsinization and inaccessible to antibody.
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PMID:Quantitative and immunologic aspects of the handling of 2,4 dinitrophenyl guinea pig albumin by macrophages. 107 39

The Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by eczema, thrombocytopenia, and profound immunodeficiency in affected males. While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease. Several investigators have demonstrated alterations in the expression of the CD43 surface antigen on WAS hematopoietic cells, noting either absence, decreased levels or changes in the characteristic molecular weight of the protein on the lymphocytes of affected patients. Biochemical studies have further indicated that glycosylating activity of specific enzymes which may post-translationally modify CD43 is altered in both T cells and Epstein-Barr-virus (EBV)-transformed B cells in WAS patients when compared to unaffected controls. Here we present data on cells derived from two males with a clinical diagnosis of WAS. Analysis of genomic DNA from the mothers of each of these patients (obligate carriers) showed a nonrandom X-chromosome inactivation pattern of nucleated blood cells, confirming the diagnosis of the X-linked syndrome. CD43 was characterized on peripheral blood lymphocytes and long-term EBV-transformed B cell lines, both to further analyze the molecular defects of WAS, as well as to attempt to generate a reproducible method for disease detection. Surprisingly, surface expression, molecular weight and two-dimensional gel analysis failed to demonstrated any reproducible differences in the CD43 expression, whether from disease or normal lymphocytes. Such results suggest possible heterogeneity of this syndrome.
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PMID:CD43 is expressed normally on Wiskott-Aldrich-derived lymphocytes. 133 89

Chromosome-mediated gene transfer (CMGT) lines were shown to be convenient donors of genomic sequences from specific regions of the genome adjacent to selectable markers. Two libraries were prepared from CMGT lines carrying sequences spanning the long arm of the human X chromosome from HPRT (Xq26) to G6PD (Xq28). A series of 22 CMGT lines sharing the same selectable marker (HPRT) were used in conjunction with five standard translocation hybrids to provide fine-resolution regional mapping of the nonrepetitive X specific probes isolated from the libraries. The order of three human recombinant sequences with respect to known X-linked markers is: PGK (Xq13), 05-02 (DXS78); HPRT (Xq26), 07-03 (DXS79); surface antigen S11 (Xq27), 07-14 (DXS80); and G6PD (Xq28).
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PMID:Isolation and regional mapping of random X sequences from distal human X chromosome. 299 37

The X-linked gene, MIC5, encodes a human cell-surface antigen, R1. We have assigned MIC5 to the region between HPRT and G6PD on the long arm of the X chromosome. Regional localization was based on the pattern of reactivity of the R1 monoclonal antibody with human-rodent somatic cell hybrids which contained different fragments of the human X chromosome.
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PMID:Localization of MIC5 to the region between HPRT and G6PD on the human X chromosome. 367 47

The monoclonal antibody AbO13 defines a cell-surface antigen that is expressed on most cultured human cells, but not on rodent cells. AbO13 precipitates glycoproteins of 25,000 and 30,000 mol. wt. from lysates of [3H]glucosamine-labeled human cells. Results of the serological typing of a panel of 25 rodent-human somatic cell hybrid clones show that reactivity with AbO13 segregates with the human X and Y chromosomes. The presence of either of these chromosomes is sufficient for O13 expression on the hybrid cell surface. Analysis of hybrid clones containing human X chromosomes with karyotypically defined deletions permitted the regional assignment of the X-linked gene locus controlling the expression of O13 to Xp22-pter. In addition, AbO13 is reactive with Chinese hamster-human hybrids derived from fibroblasts of a 49,XXXXX individual that contained only inactivated copies of the human X chromosome. These results suggest that the X-linked locus determining the expression of O13 is not subject to X-inactivation.
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PMID:Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. 403 49

During meiosis the human X and Y chromosomes form a synaptonemal complex which covers most of Yp and the terminal 30% of Xp (ref. 1). By analogy with the autosomes, this is presumed to reflect DNA sequence homology. It has been suggested that these regions of the X and Y chromosomes contain either related or identical loci which are distal to a site of cross-over, and support for these ideas has come from the finding that an X-linked cell-surface antigen controlling gene MIC2 is related to a gene on the Y chromosome. A number of DNA sequences have been shown to occur either on the X and Y chromosomes or on the X, Y and autosomes. We have now isolated a sequence from the Y chromosome which is present on Xq and Yq. This region lies well outside the pairing segments, and sequence analysis reveals no base change in 1 kilobase pair (kb). This high degree of similarity between the X and Y chromosomes near the tips of the long arms is a strong indication that interchange can occur in this region.
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PMID:Closely related sequences on human X and Y chromosomes outside the pairing region. 609 Sep 28

The influence of surrounding medium on human sperm swimming behavior has been characterized. In modified Ham's F-10 serum-supplemented in vitro fertilization medium, the straight-track swimming pattern of sperm in semen changed rapidly into circular tracks, and a new surface antigen was detected soon after this change. The circular tracks alternated between clockwise and counterclockwise directional movements. Addition of 17 beta-estradiol in a concentration range found in follicular fluid increased the frequency of clockwise movement twofold, suggesting that a steep concentration gradient created by an aduterine flow during ovulation, is likely to direct sperm migration up the gradient in the ipsilateral oviduct. Separation of X and Y sperm raised the possibility that a female carrier of an X-linked disease might choose to have a daughter, instead of taking the chance of having an affected son.
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PMID:Motility, expression of surface antigen, and X and Y human sperm separation in in vitro fertilization medium. 654 31

The relationship between neutrophil function and the neutrophil antigen, Kx, as well as the linkage of the gene, Xk, with Xg was examined in a kindred with X-linked chronic granulomatous disease. Four of the eight male siblings had chronic granulomatous disease by clinical history and tests of neutrophil function, and all four had Kx-negative neutrophils. The remaining four were in good health and had normal nitroblue tetrazolium reduction tests. However, one of these latter four had Kx-negative neutrophils that functioned normally. These data suggest that closely linked but distinct genes on the X chromosome code for chronic granulomatous disease and Kx. In addition, close linkage was demonstrated between Xk and Xg, a gene coding for an erythrocyte surface antigen.
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PMID:Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg. 723 90

CD38 is a 42 kDa membrane-associated ectoenzyme expressed by a large proportion of human and mouse lymphocytes. Agonistic antibodies to CD38 induce a strong proliferative response in lymphocytes additionally co-stimulated with other growth co-factors such as IL-4, IL-2 plus accessory cells or sub-mitogenic doses of endotoxin. We show here that B lymphocytes from unstimulated X-linked immunodeficient (xid) mice are unresponsive to CD38 stimulation, both in terms of proliferative response and surface antigen modulation. This CD38 unresponsiveness is evident in the presence of excess quantities of, and normal responses to, the accessory growth co-stimulants required for this response. CD38 molecules expressed on xid B cells are normal in terms of expression levels, size and enzymatic activity, suggesting that CD38 unresponsiveness reflects a down-stream signaling defect. In light of the recent proposal that the xid gene encodes a tyrosine kinase called Bruton's tyrosine kinase (btk), these data suggest that btk is either an integral component or an indirect regulator of the CD38-induced signal transduction pathway.
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PMID:CD38 unresponsiveness of xid B cells implicates Bruton's tyrosine kinase (btk) as a regular of CD38 induced signal transduction. 773 14

Adult HBV-transgenic males produce more hepatitis B surface antigen (HBsAg) in serum than females. The difference decreases with castration and is restored with testosterone replacement. To investigate the contribution of the androgen receptor in this process, HBV-transgenic males were mated with females heterozygous for the testicular feminization mutation (Tfm), an X-linked gene with 90% reduced androgen receptor. A total of 19 phenotypic HBV-transgenic females were studied, of which eight XYTfm females were identified by the presence of Y-chromosome DNA using molecular hybridization. The 11 normal (XX) females had 11.7 +/- 3.5 micrograms/mL (mean +/- SD) of HBsAg in their serum, whereas the Tfm (XY) females had 17.1 +/- 5.9 micrograms/mL (p < 0.05). However, the Tfm (XY) females produced less HBsAg than 33 normal (XY) males (41 +/- 12 micrograms/mL), and the overall ratio of male/female HBsAg levels was reduced: XY/XX = 3 versus XYTfm/XX = 1.5. Although dexamethasone caused an increase in XYTfm and XX mice, testosterone did not increase HBsAg in XYTfm. These data indicate that hepatitis B expression as measured by HBsAg levels in this animal model is mediated through an androgen receptor.
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PMID:Hormonal regulation of hepatitis B virus gene expression: influence of androgen receptor. 813 71


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