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)

Localization of genes GALA, G6PD, HPRT and PGK on X-chromosome of Microtus subarvalis has been proved. Using the radiation hybrid mapping technique of Goss and Harris, the order of these genes for two species M. subarvalis and M. Kirgisorum was established. Statistical methods (program package RHMAP) result in the only gene order PKG--HPRT--G6PD--GALA for M. subarvalis. The same order was found to be the most probable for M. kirgisorum. Relative distances between these genes in two species appeared to be practically equal. A conservatism of a linear order of the X-linked genes in various mammalian taxons is discussed.
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PMID:[Establishment of linkage and the order of the genes GALA, G6PD, HPRT and PGK on the X-chromosome in two species of voles of the genus Microtus]. 830 70

The clonal composition of 34 benign and malignant sporadic pancreatic endocrine tumours (PETs) of female patients was studied using a sensitive polymerase chain reaction (PCR)-mediated non-isotopic clonality analysis, which is based on the inactivation patterns of polymorphic X-linked genes encoding the androgen receptor (AR) and phosphoglycerate kinase (PGK-1) proteins. Predigestion of DNA with the methylation-sensitive restriction endonuclease Hpa II permitted selective PCR amplification of the methylated (uncleaved) allele. Amplification was successful in 27 of 34 samples. Twenty patient samples were heterozygous for the AR microsatellite region or Bst XI polymorphic site of the PGK-1 gene, permitting analysis of clonality. A monoclonal pattern of X-chromosome inactivation was found in 7 of 20 PETs (35 per cent), since DNA pretreatment with Hpa II blocked amplification of one of the two AR or PGK-1 alleles. One additional tumour exhibited an oligoclonal inactivation pattern and two others a loss of heterozygosity (LOH) at the AR locus, indicative of monoclonality. A random pattern of X-chromosome inactivation and polyclonal cellular composition was observed in the remaining ten PETs (50 per cent). When comparing informative benign and malignant PETs, only 2/7 (29 per cent) benign tumours showed a monoclonal pattern and 8/13 (61 per cent) malignant tumours a monoclonal (5), oligoclonal (1), or LOH (2) pattern. The clonal composition of PETs was not associated with a particular growth pattern, proliferation index or immunohistochemical expression pattern. These findings suggest that PETs might initially represent poly-/oligoclonal neoplastic lesions which are eventually outgrown by a single, more aggressive cell clone with the potential for invasive growth and metastatic spread.
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PMID:Clonal analysis of sporadic pancreatic endocrine tumours. 1020 84

The fragile X syndrome(FRAXA) is the disease characterized by X-linked mental retardation, large ears, behavioral problems and macroorchidism. FMR-1 gene expression and its function in human organs are not fully understood. We studied the age dependent and tissue specific FMR-1 gene expression using human autopsy materials by means of RT-PCR. Total RNAs were extracted from the tissues and RT-PCR were performed to detect FMR-1 gene expression. Semiquantitative analysis were performed and the amount of FMR-1 gene products were compared with PGK gene products. Significant FMR-1 gene expressions were noted in all tissues tested, however cerebrum, cerebellum and testis demonstrated relatively higher FMR-1 transcripts compared with other organs. Relatively high expressions were noticed in all tissues during fetal/infantile periods. Semiquantitative analysis reveals that FMR-1 gene expressed much stronger especially around the perinatal periods. These results suggested that FMR-1 gene is widely expressed in human tissues and may play an important role during human maturation not only in the central nervous systems but also in other organs including liver and kidney.
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PMID:[Age dependent and tissue specific FMR-1 gene expression in human organs]. 1022 95

Equal expression of X-linked genes such as G6PD and PGK in females and males and the initiation of X-chromosome inactivation are critically dependent on the expression of the X-inactive specific transcript (Xist). The objective of the present study was to determine the effects of in vitro production (IVP) and nuclear transfer (NT) on the relative abundance (RA) of the X-linked transcripts G6PD, PGK, and Xist in preimplantation bovine embryos. In experiment 1, sex-determined IVP or in vivo-produced embryos were analyzed for mRNA expression of the 3 genes. The sex ratio was 36% vs. 64% in IVP blastocysts and thus deviated significantly from the expected ratio of 50% in the vivo control group. The RA of G6PD transcripts was significantly higher in female IVP embryos than in male embryos. In contrast, no significant differences were seen between in vivo-derived female embryos and their male counterparts. At the morula stage, female IVP embryos transcribed significantly more PGK mRNA than did male embryos. However, blastocysts did not exhibit significant differences in PGK transcripts. No differences were observed for in vivo-derived embryos with regard to the RA of PGK transcripts. The RA of Xist mRNA was significantly higher in all female embryos than in their male counterparts. In experiment 2, IVP, in vivo-developed, NT-derived, and parthenogenetic embryos carrying two X chromosomes of either maternal and paternal origin or of maternal origin only (parthenogenotes) were analyzed for the RA of the 3 genes. In NT-derived morulae, the RA of G6PD transcripts was significantly increased compared with their IVP and in vivo-generated counterparts. G6PD transcript levels were significantly increased in IVP blastocysts compared with in vivo-generated and parthenogenetic embryos. At the morula stage, PGK transcripts were similar in all groups, but the RA of PGK transcripts was significantly higher in IVP blastocysts than in their in vivo-generated, parthenogenetic, and NT-derived counterparts. The RA of Xist was significantly elevated in NT-derived morulae compared with IVP, in vivo-generated, and parthenogenetic embryos. NT-derived blastocysts showed an increased Xist expression compared with that of IVP, in vivo-generated, and parthenogenetic embryos. Results of the present study show for the first time that differences in X-chromosome-linked gene transcript levels are related to a perturbed dosage compensation in female and male IVP and female NT-derived embryos. This finding warrants further studies to improve IVP systems and NT protocols to ensure the production of embryos with normal gene expression patterns.
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PMID:In vitro production and nuclear transfer affect dosage compensation of the X-linked gene transcripts G6PD, PGK, and Xist in preimplantation bovine embryos. 1175 Dec 74

Cytogenetic studies have shown that bandicoots (family Peramelidae) eliminate one X chromosome in females and the Y chromosome in males from some somatic tissues at different stages during development. The discovery of a polymorphism for X-linked phosphoglycerate kinase (PGK-1) in a population of Isoodon obesulus from Mount Gambier, South Australia, has allowed us to answer a number of long standing questions relating to the parental source of the eliminated X chromosome, X chromosome inactivation and reactivation in somatic and germ cells of female bandicoots. We have found no evidence of paternal PGK-1 allele expression in a wide range of somatic tissues and cell types from known female heterozygotes. We conclude that paternal X chromosome inactivation occurs in bandicoots as in other marsupial groups and that it is the paternally derived X chromosome that is eliminated from some cell types of females. The absence of PGK-1 paternal activity in somatic cells allowed us to examine the state of X chromosome activity in germ cells. Electrophoresis of germ cells from different aged pouch young heterozygotes showed only maternal allele expression in oogonia whereas an additional paternally derived band was observed in pre-dictyate oocytes. We conclude that reactivation of the inactive X chromosome occurs around the onset of meiosis in female bandicoots. As in other mammals, late replication is a common feature of the Y chromosome in male and the inactive X chromosome in female bandicoots. The basis of sex chromosome loss is still not known; however later timing of DNA synthesis is involved. Our finding that the paternally derived X chromosome is eliminated in females suggests that late DNA replication may provide the imprint for paternal X inactivation and the elimination of sex chromosomes in bandicoots.
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PMID:Sex chromosome elimination, X chromosome inactivation and reactivation in the southern brown bandicoot Isoodon obesulus (Marsupialia: Peramelidae). 1290 May 54

Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency with a median survival below the age of 20 due to infections, severe hemorrhage, and lymphomas. Transplantation of hematopoietic stem cells from HLA-identical sibling donors is a resolutive treatment, but is available for a minority of patients. Transplantation of genetically corrected autologous hematopoietic stem cells or T cells could represent an alternative treatment applicable to all patients. We investigated whether WAS gene transfer with MMLV-based oncoretroviral and HIV-based lentiviral vectors could restore normal functions of patients' T cells. T cells transduced either with lentiviral vectors expressing the WAS protein (WASP) from the ubiquitous PGK promoter or the tissue-specific WASP promoter or with an oncoretroviral vector expressing WASP from the LTR, reached normal levels of WASP with correction of functional defects, including proliferation, IL-2 production, and lipid raft upregulation. Lentiviral vectors transduced T cells from WAS patients at higher rates, compared to oncoretroviral vectors, and efficiently transduced both activated and naive WAS T cells. Furthermore, a selective growth advantage of T cells corrected with the lentiviral vectors was demonstrated. The observation that lentiviral vector-mediated gene transfer results in correction of T cell defects in vitro supports their application for gene therapy in WAS patients.
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PMID:Lentiviral vector-mediated gene transfer in T cells from Wiskott-Aldrich syndrome patients leads to functional correction. 1550 8

Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked primary immunodeficiency characterized by infections, hemorrhages, autoimmune disorders, and lymphomas. Transplantation of genetically corrected autologous hematopoietic stem cells (HSCs) could represent an alternative treatment to allogeneic HSC transplantation, the latter being often associated with severe complications. We used WAS-/- mice to test the efficacy of a gene therapy approach based on nonlethal irradiation followed by transplantation of WAS-/- HSCs transduced with lentiviral vectors encoding the WAS protein (WASP) from either the ubiquitous PGK promoter or the tissue- specific WAS promoter. The procedure resulted in significant levels of engraftment of WASP-expressing T cells, B cells, platelets, and myeloid cells. T cells harbored one or two vector copies and displayed partial to full correction of T cell receptor-driven interleukin-2 production and proliferation. In addition, polymerization of F-actin and localization of WASP at the site of the immunological synapse were restored. The treatment was well tolerated and no pathology was detected by systematic blood analysis and autopsy. The efficacy of WAS gene transfer into HSCs, using the WAS promoter-containing lentiviral vector, combined with nonlethal irradiation provides a strong rationale for the development of gene therapy for WAS patients.
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PMID:Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation. 1654 79

Electrophoretic variation for X-chromosome-linked phosphoglycerate kinase (PGK-1) has been found as a polymorphism in feral mice in Denmark. Males from feral sampling or from a variety of genetic crosses have only a single-banded phenotype of the variant PGK-1A type or of the PGK-1B type commonly found among inbred mice. By contrast, three phenotypes were observed among females; two homozygous single-banded types and a heterozygous double-banded type. The X-chromosome linkage of the Pgk-1 locus was determined from the mode of inheritance in F(1) and backcross generations and confirmed by the linkage of Pgk-1 and the X-linked markers Hq, Ta and Mo. Pgk-1 showed 29/122 recombinations with Hq, 5/185 with Ta and 0/108 recombinants with Mo. Based on these recombination data, a gene order of Hq-Ta-Pgk-1-Mo is suggested.
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PMID:Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse. 1724 65

Somatic cell hybrids have been obtained between HPRT Chinese hamster cells and cells from several dasyurid marsupial species. These hybrids show the extensive loss of marsupial chromosomes characteristic of the majority of marsupial-eutherian somatic cell hybrids. Although all of the hybrids expressed the selected marsupial marker, HPRT, the only other markers observed were PGK, GLA, and G6PD, consistent with the conservation of X-linked genes extending to this major group of marsupials. Counterselection confirmed the synteny of PGK and GLA with HPRT, whereas G6PD showed decreased concordance.
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PMID:Gene mapping in marsupials and monotremes. II. Assignments to the X chromosome of dasyurid marsupials. 2223 17


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