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Gene Review

CHRFAM7A  -  CHRNA7 (cholinergic receptor, nicotinic,...

Homo sapiens

Synonyms: CHRNA7, CHRNA7-DR1, CHRNA7-FAM7A fusion protein, D-10
 
 
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Disease relevance of CHRFAM7A

  • Sonnei and three Dysenteriae strains (D1, D8, and D10) are outside of the three main clusters but, nonetheless, are clearly within Escherichia coli [1].
  • The D10/6-271-specific CTL clone required approximately 3 nM exogenous peptide for half-maximal lysis of target cells and was able to specifically recognize endogenous DAM antigen on HLA-A2+ melanoma cells infected with a vaccinia vector recombinant for gene DAM-6 [2].
  • Analysis of the cross-linked MSH receptor by sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed that a photolabeled band of approximately 45 kDa occurs in B16-F1, B16-F10, and Cloudman S91 mouse melanoma, as well as in human D10 and 205 melanoma but not in non-melanoma cells [3].
  • Incorporation of asparagine synthetase-specific monoclonal antibodies into L5178Y D10/R (L-asparaginase-resistant) murine lymphoma cells by osmotic lysis of pinocytic vesicles was used to evaluate the potential of the technique for macromolecular incorporation for metabolic studies [4].
  • Here, we further characterized the D10 protein and showed that only trace amounts are associated with purified virions and that it is expressed exclusively at late times after vaccinia virus infection [5].
 

Psychiatry related information on CHRFAM7A

  • METHOD: CHRNA7 and CHRFAM7A mRNA levels were measured in postmortem prefrontal cortex (donated by the Stanley Foundation) from subjects with schizophrenia, bipolar disorder and unaffected controls (n = 35 each) [6].
  • Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder [7].
  • However, a significant improvement in performance (except in recognition reaction time) was shown at D7, D10, and D14 in the alprazolam group compared with the control group results [8].
 

High impact information on CHRFAM7A

  • T cell transfectants have been prepared that express individual CD45 isoforms in cells with a well-defined T cell receptor (TCR) from the D10 T helper 2 clone [9].
  • The cell survival of exponentially growing monolayers and MTS treated with cisplatin declined in a monoexponential fashion with a concentration of drug resulting in 10% colony survival (D10) of 7.75 micrograms/ml and 9.5 micrograms/ml, respectively [10].
  • One-fifth of the D10 value (concentration of drug that reduced colony-formation ability to 10% that of control) for each isoprenoid was calculated from dose-response curves of Chinese hamster V79 cells or human HeLa cells in culture [11].
  • However, following incubation of normal leukocytes with phytohemagglutinin, DNA synthesis commenced in T-lymphocyte precursors for 3 additional normal controls, which was associated with an increased data sensitivity with D10 values ranging from 4.4 to 6.2 microgram/ml [12].
  • Con A-activated normal T cells, the TH-2 cell line D10, as well as the macrophage cell line J774 have no detectable Fc epsilon RII mRNA [13].
 

Chemical compound and disease context of CHRFAM7A

  • These clones, designated C3, D10, and H10 were each found to express a human cytomegalovirus/beta-galactosidase fusion protein that was reactive with antibody prepared against purified virions [14].
  • Findings on admission included the following: illicit drug use, serum hepatitis B surface antigen positive, grade 1 encephalopathy, prothrombin time (pt) >100 sec, F7<1%, NH3 150 micromol/L, alanine aminotransferase 4079 U/L, total bilirubin level 11.4 mg/dl, and glucose 70 mg/dl (on IV D10) [15].
  • In the absence of MHC class II, purified soluble D10 TCR bound to Staphylococcus aureus enterotoxin C2 with an association rate of 1.69+/-0.12 x 10(4)M(-1) sec(-1) and a dissociation rate of 1.9+/-0.47 x 10(-2) sec(-1), giving a dissociation constant of 1.1 microM [16].
  • The purpose of this study was to investigate the effects of retinoid analogues with different retinoid receptor specificity on the growth of human D10 and Cloudman S91 mouse melanoma cells [17].
  • The addition of carvacrol and tetrasodium pyrophosphate and the use of modified atmosphere packaging reduced the radiation D10-value from 0.126 to 0.046 kGy for E. coli and from 0.526 to 0.053 kGy for Salmonella Typhi [18].
 

Biological context of CHRFAM7A

  • Mutation screening of the CHRNA7 gene (and consequently exons 5-10 of CHRFAM7A) and its putative promoter sequence identified a total of 13 sequence variants across 23 of 34 JME-affected families [19].
  • Multipoint linkage analysis and intrafamilial association studies were performed with microsatellite markers that encompass both CHRNA7 and its partial duplication (CHRFAM7A) [19].
  • No significant association was seen for schizophrenia and bipolar disorder by genotype or allele overall for either polymorphism, but a mildly significant association by genotype (P = 0.04) was observed for absence of CHRFAM7A when the sample was analyzed as a single psychosis phenotype [7].
  • OBJECTIVE: The alpha7-nicotinic receptor subunit gene (CHRNA7) is located at chromosome 15q13-14, a region previously linked with schizophrenia [6].
  • Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7) [20].
 

Anatomical context of CHRFAM7A

  • These results, and related ones previously obtained from studies of the interactions of D10 Th cells with antigen-presenting cells, are analyzed to suggest that the membrane clustering of TCRs and the induced TCR-CD4 interactions are critical to the signaling events in Th-cell activation [21].
  • Fibroblasts from the patient with Turcot's syndrome were hypersensitive to MMS, having a D0 value of 0.24 mM (p less than 0.01) versus the normal average D0 of 0.36 mM and a D10 value of 0.95 mM (p less than 0.01) compared with the normal average value of 1.3 mM [22].
  • When as many as 10(7) D10 cells were injected s.c. into syngeneic mice, only one-half of the mice developed tumors composed of neoplastic endothelial cells with ample vascular lumina of various sizes [23].
  • The anterior 3 segments of the hindlimb enlargement, D8-D10, could produce a pocket scratch motor pattern [24].
  • Extending the characterization of these two factors, we show here that human BCGF and D10 sup both cause tritiated thymidine ([3H]TdR) incorporation and IgM secretion by T cell-depleted, in vivo-activated, large murine B cells [25].
 

Associations of CHRFAM7A with chemical compounds

  • Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) [26].
  • No correlation was found between D10 Ara-C values measured in suspension or in methylcellulose [27].
  • In addition, strain GM2355 was significantly more sensitive to ethyl methanesulfonate based on D10 comparison only, 24 mM versus the normal average D10 of 28 mM (p less than 0.05) [22].
  • Fibroblasts from the clinically affected Gardner's syndrome daughter of the proband were significantly more sensitive to MMS treatment, D0 of 0.22 mM (p less than 0.01) versus the normal average D0 of 0.36 mM and a D10 of 0.97 mM (p less than 0.01) versus the normal average [22].
  • Both drugs were comparable as inhibitors of the glutamate-induced assembly of purified tubulin, with D10 being slightly more potent [28].
 

Analytical, diagnostic and therapeutic context of CHRFAM7A

  • We demonstrate here by immunofluorescence experiments that it is also distinctively able itself to produce a clustering (capping) of the TCRs on the D10 cell surface [21].
  • Furthermore, an enzyme-linked immunosorbent assay system has been developed that can detect low levels of IL 1 alpha activity (less than 0.3 ng/ml or less than 3 U/ml), which is still less sensitive than thymocyte comitogenic assay and considerably less sensitive than the D10 assay [29].
  • Two functionally different monoclonal antibodies (Mab 3F3 and Mab 2B4) specific for asparagine synthetase (EC 6.3.1.1) were used for electroporation into HeLa, HT-5, and L5178Y D10/R (L-asparaginase-resistant) cells [30].
  • RT-PCR, quantitative real-time PCR, immunocytochemistry, and western blot analyses revealed differential expression of nine HOX genes (A6, A7, A9, A13, B13, D4, D9, D10, and D13) in normal human astrocytic cell lines and non-neoplastic temporal lobe specimens [31].
  • Cytokine bioactivity, as determined by [3H]thymidine incorporation into D10 cells in response to UEC-conditioned medium, paralleled the pattern of IL-1 alpha secretion observed using the immunoassay [32].

References

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  5. Characterization of a vaccinia virus mutant with a deletion of the D10R gene encoding a putative negative regulator of gene expression. Parrish, S., Moss, B. J. Virol. (2006) [Pubmed]
  6. Regulation of alpha7-nicotinic receptor subunit and alpha7-like gene expression in the prefrontal cortex of patients with bipolar disorder and schizophrenia. De Luca, V., Likhodi, O., Van Tol, H.H., Kennedy, J.L., Wong, A.H. Acta psychiatrica Scandinavica. (2006) [Pubmed]
  7. Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder. Flomen, R.H., Collier, D.A., Osborne, S., Munro, J., Breen, G., St Clair, D., Makoff, A.J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
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  9. The extracellular domain of CD45 controls association with the CD4-T cell receptor complex and the response to antigen-specific stimulation. Leitenberg, D., Novak, T.J., Farber, D., Smith, B.R., Bottomly, K. J. Exp. Med. (1996) [Pubmed]
  10. Cytotoxicity of cisplatin and cisdiammine-1,1-cyclobutane dicarboxylate in MGH-U1 cells grown as monolayers, spheroids, and xenografts. Erlichman, C., Vidgen, D., Wu, A. J. Natl. Cancer Inst. (1985) [Pubmed]
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  13. Molecular structure and expression of the murine lymphocyte low-affinity receptor for IgE (Fc epsilon RII). Bettler, B., Hofstetter, H., Rao, M., Yokoyama, W.M., Kilchherr, F., Conrad, D.H. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
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  15. Defining hepatocellular chimerism in a liver failure patient bridged with hepatocyte infusion. Fisher, R.A., Bu, D., Thompson, M., Tisnado, J., Prasad, U., Sterling, R., Posner, M., Strom, S. Transplantation (2000) [Pubmed]
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  17. Melanoma cell growth inhibition and melanocortin receptor downregulation induced by selective and non-selective retinoids. Siegrist, W., Hintermann, E., Roggo, C.N., Apfel, C.M., Klaus, M., Eberle, A.N. Melanoma Res. (1998) [Pubmed]
  18. Combined effect of carvacrol and packaging conditions on radiosensitivity of Escherichia coli and Salmonella Typhi in ground beef. Chiasson, F., Borsa, J., Lacroix, M. J. Food Prot. (2005) [Pubmed]
  19. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. Taske, N.L., Williamson, M.P., Makoff, A., Bate, L., Curtis, D., Kerr, M., Kjeldsen, M.J., Pang, K.A., Sundqvist, A., Friis, M.L., Chadwick, D., Richens, A., Covanis, A., Santos, M., Arzimanoglou, A., Panayiotopoulos, C.P., Whitehouse, W.P., Rees, M., Gardiner, R.M. Epilepsy Res. (2002) [Pubmed]
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  26. Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7). Gault, J., Robinson, M., Berger, R., Drebing, C., Logel, J., Hopkins, J., Moore, T., Jacobs, S., Meriwether, J., Choi, M.J., Kim, E.J., Walton, K., Buiting, K., Davis, A., Breese, C., Freedman, R., Leonard, S. Genomics (1998) [Pubmed]
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