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Gene Review

PTER  -  phosphotriesterase related

Homo sapiens

Synonyms: HPHRP, Parathion hydrolase-related protein, Phosphotriesterase-related protein, RPR-1, hPHRP
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Disease relevance of PTER

  • Based on high-level copy number increases (3 to 10-fold) found with one or more probes in 5 of 14 (35%) breast cancer cell lines and in 3 of 36 (8%) primary tumors, the critical region was narrowed to approximately 1.5 megabases at 20q13.2 defined by fractional length pter values 0.81-0.84 [1].
  • The 5' and 3' cellular flanking sequences mapped to the centromeric alpha-satellite DNA of chromosome 17 and to the short arm of chromosome 7 (p14-pter), respectively, indicating that chromosomal translocation was associated with the hepatitis B virus DNA integration [2].
  • The most common gains in anaplastic carcinoma were in chromosomes 7p (p22-pter, 31%), 8q (q22-qter, 23%), and 9q (q34-qter, 23%) [3].
  • Detailed mapping demonstrated variability in the size of the chromosomal region showing LOH; however, the data suggest a common 30-centimorgan region of LOH on chromosome 8p between the LPL locus and pter in colorectal and prostatic cancers [4].
  • A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis [5].

Psychiatry related information on PTER


High impact information on PTER

  • At least ten leukocyte interferon genes and the single known fibroblast interferon gene have been localized on the pter leads to q12 region of human chromosome 9 [10].
  • The Giemsa banding technique revealed that the deletion of the long arms of chromosome number 5 was interstitial: del (5) (pter leads to q12 : : q31 leads to qter) [11].
  • For our families, marker D19S886 yielded a maximum LOD score of 4.74 at a recombination fraction (theta) of .045; multipoint linkage analysis resulted in a LOD score of 7.51 for the interval between D19S886 and 19 pter [12].
  • Molecular investigations showed that the pseudoautosomal region as well as the steroid sulfatase gene were deleted, but telomeric sequences were present at the pter on the deleted X chromosome [13].
  • Our data are consistent with the proposed gene order pter D17S58-D17Z1-NF1-D17S57-D17S73 qter [14].

Biological context of PTER

  • Assignment1 of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization [15].
  • Five clones reside on the long arm of chromosome 22 between q112 and pter, while one clone and an 18S rRNA gene isolated from the chromosome 22 library reside pter and g112 [16].
  • In black individuals, bivariate linkage analyses of log serum creatinine and pulse pressure (i.e., systolic-diastolic BP) provided "suggestive" evidence of a region on chromosome 5 with pleiotropic effects on both traits (MLS = 3.62, at 85 cM from pter; P = 0.00023) [17].
  • Our results suggest that the HLA system is below 6p22.4, the breakpoint found in the balanced translocation 6p22;10q26 of the father which produced the partial trisomy 6p22 leads to pter of the proband [18].
  • Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter) [5].

Anatomical context of PTER

  • Molecular cloning and expression pattern of rpr-1, a resiniferatoxin-binding, phosphotriesterase-related protein, expressed in rat kidney tubules [19].
  • An isodicentric X chromosome (46, X idic (X)(pter leads to qter::qter leads to pter)) with a single functioning centromere was found in all lymphocytes and fibroblasts examined from a female patient 171.5 cm in height presenting with primary amenorrhoea [20].
  • The results obtained using the hybrid cell lines showed that this newly identified collagen gene, COL15A1, is present in the pter --> q34 region of chromosome 9 [21].
  • The karyotype 46,XY,del(5) (pter --> p13::cen --> qter)/47,XY,+dicr(5)(:p13 --> cen::p13 --> cen), del(5)(pter --> p13::cen --> qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes [22].
  • Since the cloned T cells, unlike the polyclonal response, failed to respond to Dermatophagoides pteronyssinus (D. pter.), this suggests that they recognize a species-specific epitope [23].

Associations of PTER with chemical compounds

  • In tissues sensitized by incubation in sera from asthmatic patients, preexposure to 0.3 microM acrolein (an aldehyde) for 10 min or 20 min significantly increased the maximal contractile response to the antigen Dermatophagoides pteronyssinus (D. pter.) by 20.5 +/- 6.5 and 34.9 +/- 7.4%, respectively [24].
  • The ranges of allergen detection limits for HR were equal for cat and Derm. pter [25].
  • The subjects were 28 children, aged 6-14 years, with known sensitivities to Dermatophagoides pteronyssinus (D. pter.). Both devices were applied to each subject on two occasions, 1 week apart, by different, randomly assigned fieldworkers, using histamine, negative control, and the D. pter. allergen extract [26].
  • Assignment of the gene for phosphoribosylpyrophosphate amidotransferase to the pter leads to q21 region of human chromosome 4 [27].
  • Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter leads to q22 of chromosome 7 [28].

Analytical, diagnostic and therapeutic context of PTER


  1. Increased copy number at 20q13 in breast cancer: defining the critical region and exclusion of candidate genes. Tanner, M.M., Tirkkonen, M., Kallioniemi, A., Collins, C., Stokke, T., Karhu, R., Kowbel, D., Shadravan, F., Hintz, M., Kuo, W.L. Cancer Res. (1994) [Pubmed]
  2. A chromosome 17:7 translocation is associated with a hepatitis B virus DNA integration in human hepatocellular carcinoma DNA. Meyer, M., Wiedorn, K.H., Hofschneider, P.H., Koshy, R., Caselmann, W.H. Hepatology (1992) [Pubmed]
  3. DNA copy number changes in thyroid carcinoma. Hemmer, S., Wasenius, V.M., Knuutila, S., Franssila, K., Joensuu, H. Am. J. Pathol. (1999) [Pubmed]
  4. Deletion mapping of chromosome 8p in colorectal carcinoma and dysplasia arising in ulcerative colitis, prostatic carcinoma, and malignant fibrous histiocytomas. Chang, M., Tsuchiya, K., Batchelor, R.H., Rabinovitch, P.S., Kulander, B.G., Haggitt, R.C., Burmer, G.C. Am. J. Pathol. (1994) [Pubmed]
  5. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter). Daniel, A., Saville, T., Southall, D.B. J. Med. Genet. (1979) [Pubmed]
  6. Possible intrachromosomal duplication in a case of trisomy 9p. Chiyo, H., Furuyama, J., Suehara, N., Obashi, Y., Kikkawa, H. Hum. Genet. (1976) [Pubmed]
  7. Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. DeLisi, L.E., Mesen, A., Rodriguez, C., Bertheau, A., LaPrade, B., Llach, M., Riondet, S., Razi, K., Relja, M., Byerley, W., Sherrington, R. Am. J. Med. Genet. (2002) [Pubmed]
  8. Duplication 15q14 --> pter: a rare chromosomal abnormality underlying bipolar affective disorder. Reif, A., Kress, W., Wurm, K., Benninghoff, J., Pfuhlmann, B., Lesch, K.P. Eur. Psychiatry (2004) [Pubmed]
  9. Chromosomal abnormalities in a series of children with autistic disorder. Konstantareas, M.M., Homatidis, S. Journal of autism and developmental disorders. (1999) [Pubmed]
  10. Clustering of leukocyte and fibroblast interferon genes of human chromosome 9. Shows, T.B., Sakaguchi, A.Y., Naylor, S.L., Goedell, D.V., Lawn, R.M. Science (1982) [Pubmed]
  11. Specificity of the 5q-chromosome in a distinct type of refractory anemia. Verhest, A., Van Schoubroeck, F., Wittek, M., Naets, J.P., Denolin-Reubens, R. J. Natl. Cancer Inst. (1976) [Pubmed]
  12. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Mehenni, H., Blouin, J.L., Radhakrishna, U., Bhardwaj, S.S., Bhardwaj, K., Dixit, V.B., Richards, K.F., Bermejo-Fenoll, A., Leal, A.S., Raval, R.C., Antonarakis, S.E. Am. J. Hum. Genet. (1997) [Pubmed]
  13. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Mohandas, T.K., Speed, R.M., Passage, M.B., Yen, P.H., Chandley, A.C., Shapiro, L.J. Am. J. Hum. Genet. (1992) [Pubmed]
  14. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. Kittur, S.D., Bagdon, M.M., Lubs, M.L., Phillips, J.A., Murray, J.C., Slaugenhaupt, S.A., Chakravarti, A., Adler, W.H. Am. J. Hum. Genet. (1989) [Pubmed]
  15. Assignment1 of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization. Alimova-Kost, M.V., Imreh, S., Buchman, V.L., Ninkina, N.N. Cytogenet. Cell Genet. (1998) [Pubmed]
  16. Construction and characterization of genomic libraries from specific human chromosomes. Krumlauf, R., Jeanpierre, M., Young, B.D. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  17. Influence of genomic Loci on measures of chronic kidney disease in hypertensive sibships. Turner, S.T., Kardia, S.L., Mosley, T.H., Rule, A.D., Boerwinkle, E., de Andrade, M. J. Am. Soc. Nephrol. (2006) [Pubmed]
  18. Partial trisomy 6p: 46,XX, -10, der(10),t(6;10) (p22;q26)pat and HLA localisation. Ferrando, P., San Román, C., Rodriguez de Cordoba, S., Arnaiz-Villena, A. J. Med. Genet. (1981) [Pubmed]
  19. Molecular cloning and expression pattern of rpr-1, a resiniferatoxin-binding, phosphotriesterase-related protein, expressed in rat kidney tubules. Davies, J.A., Buchman, V.L., Krylova, O., Ninkina, N.N. FEBS Lett. (1997) [Pubmed]
  20. Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. Robertson, J., Faed, M.J., Lamont, M.A., Crowder, A.M. J. Med. Genet. (1982) [Pubmed]
  21. Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. Huebner, K., Cannizzaro, L.A., Jabs, E.W., Kivirikko, S., Manzone, H., Pihlajaniemi, T., Myers, J.C. Genomics (1992) [Pubmed]
  22. Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen. Schuffenhauer, S., Kobelt, A., Daumer-Haas, C., Löffler, C., Müller, G., Murken, J., Meitinger, T. Am. J. Med. Genet. (1996) [Pubmed]
  23. Cloned human T lymphocytes reactive with Dermatophagoides farinae (house dust mite): a comparison of T- and B-cell antigen recognition. O'Hehir, R.E., Young, D.B., Kay, A.B., Lamb, J.R. Immunology (1987) [Pubmed]
  24. Human isolated airway contraction: interaction between air pollutants and passive sensitization. Roux, E., Hyvelin, J.M., Savineau, J.P., Marthan, R. Am. J. Respir. Crit. Care Med. (1999) [Pubmed]
  25. Aeroallergen analyses and their clinical relevance. I. Immunochemical quantification of allergens by RAST-inhibition, Mab-ELISA, basophil histamine release, and counter current immuno electrophoresis. Johnsen, C.R., Abrahamsen, L., Stahl Skov, P., Johansen, N., Poulsen, L.K. Allergy (1991) [Pubmed]
  26. Reproducibility of skin prick test results in epidemiologic studies: a comparison of two devices. Illi, S., Garcia-Marcos, L., Hernando, V., Guillen, J.J., Liese, A., von Mutius, E. Allergy (1998) [Pubmed]
  27. Assignment of the gene for phosphoribosylpyrophosphate amidotransferase to the pter leads to q21 region of human chromosome 4. Stanley, W., Chu, E.H. Cytogenet. Cell Genet. (1978) [Pubmed]
  28. Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter leads to q22 of chromosome 7. Benn, P., Chern, C.J., Bruns, G., Craig, I.W., Croce, C.M. Cytogenet. Cell Genet. (1977) [Pubmed]
  29. Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature. Khodr, G.S., Cadena, G., Le, K.L., Kagan-Hallet, K.S. Am. J. Med. Genet. (1982) [Pubmed]
  30. The dermatoglyphic pattern of the trisomy 10p syndrome. Rodewald, A., Stengel-Rutkowski, S. Clin. Genet. (1978) [Pubmed]
  31. Filtration of airborne allergens in various households. Fischer, M., Knauer, S., Petzold, D., Sonntag, H.G. Zentralblatt für Hygiene und Umweltmedizin = International journal of hygiene and environmental medicine. (1994) [Pubmed]
  32. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Rosias, P.R., Sijstermans, J.M., Theunissen, P.M., Pulles-Heintzberger, C.F., De Die-Smulders, C.E., Engelen, J.J., Van Der Meer, S.B. Genetic counseling (Geneva, Switzerland) (2001) [Pubmed]
  33. Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies. Wilson, W.G., Wyandt, H.E., Shah, H. Am. J. Dis. Child. (1983) [Pubmed]
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