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Gene Review

GART  -  phosphoribosylglycinamide...

Homo sapiens

Synonyms: AIRS, GARS, GARTF, PAIS, PGFT, ...
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Disease relevance of GART

  • The electrostatic surface potentials of the human GART domain and Escherichia coli enzyme explain differences in the binding affinity of polyglutamylated folates, and these differences have implications to future chemotherapeutic agent design [1].
  • The frequency of protease and reverse transcriptase (RT) gene mutations was determined in HIV-1 strains from 153 patients entering the CPCRA 046 (GART) study who were failing triple-drug regimens consisting of one protease inhibitor (PI) and two RT inhibitors [2].
  • The GART domain was expressed in E. coli under the control of bacteriophage T7 promotor and isolated by a three-step chromatographic procedure [3].
  • We have characterized two different mutations of the human androgen receptor (hAR) found in two unrelated subjects with androgen insensitivity syndrome (AIS): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS) [4].
  • PAIS with a virtually normal male phenotype can present in adulthood with sexual dysfunction as well as infertility [5].

High impact information on GART

  • Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes [6].
  • Gart and Nam give a simple score test of a zero true recessive-gene frequency for such situations [7].
  • Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene [8].
  • Therefore, the accessory factor (AF-1) gene can be localized to a 150-kb region at the left (centric) end of the parental 540-kb GART YAC [9].
  • In contrast, there is limited posttranslational control over GART and PEPC and close posttranslational control over uricase activity [10].

Biological context of GART

  • Consequently, the GARS gene locus, assigned to chromosome 21, could be localized in subband 21q22.1 [11].
  • An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55 [11].
  • The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21 [11].
  • Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes [12].
  • While GART is involved in purine biosynthesis, we find that SON shows the characteristics of "SR- type" proteins, which are involved in mRNA processing and gene expression [12].

Anatomical context of GART


Associations of GART with chemical compounds

  • Glycinamide ribonucleotide transformylase (GART; 10-formyltetrahydrofolate:5'-phosphoribosylglycinamide formyltransferase, EC, an essential enzyme in de novo purine biosynthesis, has been a chemotherapeutic target for several decades [1].
  • In contrast, the MAIS subject's hAR (R871G) has k(diss) values that are apparently normal for MB and methyltrienolone; in addition, the R871G hAR's ability to bind MB resists thermal stress better than the hAR from the PAIS subject [4].
  • Establishing the functional consequences of androgen receptor mutations in vitro systems and correlating them with clinical presentation may ultimately provide an explanation for the variable clinical presentation of AIS and perhaps enable prediction of the response to androgen therapy in infants with PAIS [18].
  • Mary Beth Pais, MNEd, RN, ONC, the recipient of the 1993 Nursing Economic$ Excellence Award, is clinical nurse manager, University of Pittsburgh Medical Center, Montefiore University Hospital, Pittsburgh, PA [19].

Other interactions of GART

  • Here, analysis of 21q22.1-->q22.2 genomic sequence revealed that ITSN consists of 41 exons spanning approximately 250 kb and maps between GART and D21S325 [20].
  • The enzyme activities appear to be associated with an expressed protein of 110 kDa, very similar to that of purified human GART trifunctional enzyme [15].
  • Specifically, both genes are localized to the region of chromosome 21 containing the markers D21S58, D21S65, and GART and appear to be proximal to D21S58 [21].

Analytical, diagnostic and therapeutic context of GART


  1. The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase. Dahms, T.E., Sainz, G., Giroux, E.L., Caperelli, C.A., Smith, J.L. Biochemistry (2005) [Pubmed]
  2. Frequency of antiretroviral drug resistance mutations in HIV-1 strains from patients failing triple drug regimens. The Terry Beirn Community Programs for Clinical Research on AIDS. Winters, M.A., Baxter, J.D., Mayers, D.L., Wentworth, D.N., Hoover, M.L., Neaton, J.D., Merigan, T.C. Antivir. Ther. (Lond.) (2000) [Pubmed]
  3. Heterologous expression and purification of active human phosphoribosylglycinamide formyltransferase as a single domain. Kan, C.C., Gehring, M.R., Nodes, B.R., Janson, C.A., Almassy, R.J., Hostomska, Z. J. Protein Chem. (1992) [Pubmed]
  4. Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. Shkolny, D.L., Beitel, L.K., Ginsberg, J., Pekeles, G., Arbour, L., Pinsky, L., Trifiro, M.A. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  5. Mild androgen insensitivity presenting with sexual dysfunction. Cundy, T.F., Rees, M., Evans, B.A., Hughes, I.A., Butler, J., Wheeler, M.J. Fertil. Steril. (1986) [Pubmed]
  6. Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. Gnirke, A., Barnes, T.S., Patterson, D., Schild, D., Featherstone, T., Olson, M.V. EMBO J. (1991) [Pubmed]
  7. On two tests of fit for HLA data with no double blanks. Nam, J.M., Gart, J.J. Am. J. Hum. Genet. (1987) [Pubmed]
  8. Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene. Goto, J., Gnirke, A., Khodr, N., Kaufer, E., Krizus, A., Figlewicz, D.A., Rouleau, G.A. Hum. Mol. Genet. (1993) [Pubmed]
  9. Sublocalization of the human interferon-gamma receptor accessory factor gene and characterization of accessory factor activity by yeast artificial chromosomal fragmentation. Cook, J.R., Emanuel, S.L., Donnelly, R.J., Soh, J., Mariano, T.M., Schwartz, B., Rhee, S., Pestka, S. J. Biol. Chem. (1994) [Pubmed]
  10. Effect of short-term N(2) deficiency on expression of the ureide pathway in cowpea root nodules. Smith, P.M., Winter, H., Storer, P.J., Bussell, J.D., Schuller, K.A., Atkins, C.A. Plant Physiol. (2002) [Pubmed]
  11. Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221. Chadefaux, B., Allard, D., Rethoré, M.O., Raoul, O., Poissonnier, M., Gilgenkrantz, S., Cheruy, C., Jérôme, H. Hum. Genet. (1984) [Pubmed]
  12. Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. Wynn, S.L., Fisher, R.A., Pagel, C., Price, M., Liu, Q.Y., Khan, I.M., Zammit, P., Dadrah, K., Mazrani, W., Kessling, A., Lee, J.S., Buluwela, L. Genomics (2000) [Pubmed]
  13. Microinjection of intact 200- to 500-kb fragments of YAC DNA into mammalian cells. Gnirke, A., Huxley, C., Peterson, K., Olson, M.V. Genomics (1993) [Pubmed]
  14. Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21. Li, C.M., Guo, M., Salas, M., Schupf, N., Silverman, W., Zigman, W.B., Husain, S., Warburton, D., Thaker, H., Tycko, B. BMC Med. Genet. (2006) [Pubmed]
  15. Expression of a human cDNA encoding a protein containing GAR synthetase, AIR synthetase, and GAR transformylase corrects the defects in mutant Chinese hamster ovary cells lacking these activities. Chang, F.H., Barnes, T.S., Schild, D., Gnirke, A., Bleskan, J., Patterson, D. Somat. Cell Mol. Genet. (1991) [Pubmed]
  16. Localization of neurons afferent to the optic tectum in longnose gars. Northcutt, R.G. J. Comp. Neurol. (1982) [Pubmed]
  17. Intrauterine insemination with frozen sperm increases pregnancy rates in donor insemination cycles under gonadotropin stimulation. Matorras, R., Gorostiaga, A., Diez, J., Corcóstegui, B., Pijoan, J.I., Ramón, O., Rodriguez-Escudero, F.J. Fertil. Steril. (1996) [Pubmed]
  18. A clinician looks at androgen resistance. Balducci, R., Ghirri, P., Brown, T.R., Bradford, S., Boldrini, A., Boscherini, B., Sciarra, F., Toscano, V. Steroids (1996) [Pubmed]
  19. An interview with Mary Beth Pais. Interview by Connie R Curran. Pais, M.B. Nursing economic$. (1994) [Pubmed]
  20. Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2. Guipponi, M., Scott, H.S., Hattori, M., Ishii, K., Sakaki, Y., Antonarakis, S.E. Cytogenet. Cell Genet. (1998) [Pubmed]
  21. Sublocalization on chromosome 21 of human interferon-alpha receptor gene and the gene for an interferon-gamma response protein. Langer, J.A., Rashidbaigi, A., Lai, L.W., Patterson, D., Jones, C. Somat. Cell Mol. Genet. (1990) [Pubmed]
  22. Limited benefit of antiretroviral resistance testing in treatment-experienced patients: a meta-analysis. Panidou, E.T., Trikalinos, T.A., Ioannidis, J.P. AIDS (2004) [Pubmed]
  23. Transfer of the human HPRT and GART genes from yeast to mammalian cells by microinjection of YAC DNA. Gnirke, A., Huxley, C. Somat. Cell Mol. Genet. (1991) [Pubmed]
  24. The risk of nephrectomy during local control in abdominal neuroblastoma. Shamberger, R.C., Smith, E.I., Joshi, V.V., Rao, P.V., Hayes, F.A., Bowman, L.C., Castleberry, R.P. J. Pediatr. Surg. (1998) [Pubmed]
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