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Gene Review

RTEL1  -  regulator of telomere elongation helicase 1

Homo sapiens

Synonyms: C20orf41, DKCA4, DKCB5, DKFZP434C013, KIAA1088, ...
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Disease relevance of RTEL1


Psychiatry related information on RTEL1

  • To reduce the duration of granulocytopenia, which is approximately 20 days after BMT, in this study patients with ALL, relapsed or high-grade NHL, relapsed or refractory HD, or Neuroblastoma stage III/IV, were given rh GM-CSF to assess the effects on hematological and immunological reconstitution after conditioning therapy and BMT [5].

High impact information on RTEL1

  • Rtel(-/-) embryonic stem cells showed telomere loss and displayed many chromosome breaks and fusions upon differentiation in vitro [6].
  • Crosses of Rtel(+/-) mice with Mus spretus showed that Rtel from the Mus musculus parent is required for telomere elongation of M. spretus chromosomes in F1 cells [6].
  • We cloned this Regulator of telomere length (Rtel) gene and inactivated its expression in mice [6].
  • Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein [6].
  • Rtel(-/-) mice died between days 10 and 11.5 of gestation with defects in the nervous system, heart, vasculature, and extraembryonic tissues [6].

Chemical compound and disease context of RTEL1


Biological context of RTEL1

  • Finally, we find that M68 lies within a four-gene cluster that includes a novel helicase-like gene (NHL) related to RAD3/ERCC2, a plasma membrane Ras-related GTPase and a member of the stathmin family, amplification or overexpression of which may also contribute to cell growth and tumor progression [12].
  • No NHL samples were classified as the early thymocyte phenotype [13].
  • Our findings strongly suggest that the combined immunohistochemical evaluation of p53 and p21WAF1 is a valuable means of assessing the functional status of the p53 tumor-suppressor gene product in NHL with potential application in the monitorage and prognostication of individual cases [14].
  • In striking contrast with acute leukemia, the levels of WT1 gene expression for NHL were significantly lower or even undetectable [15].
  • Remarkably, the duration of the S-phase, the duration of the G1-phase, and the total cell cycle time appeared to be rather independent of histologic malignancy grade within the NHL category [16].

Anatomical context of RTEL1

  • This study strongly suggests that similar to HD and probably BL, there are important epidemiologic differences in EBV association in intestinal T-cell NHL between European and Mexican populations [3].
  • According to French-American-British criteria, these cases could not be classified as classical B-cell chronic lymphocytic leukemia, hairy cell leukemia and its variant forms, splenic lymphoma with villous lymphocytes, or leukemic phase non-Hodgkin's lymphoma (NHL; follicular or intermediate type) [17].
  • In most cases, this information yielded the desired clone-specific sequence and showed a background population of polyclonal TCR gamma cells in each specimen, except for those that were obtained from the T-ALL samples, the cell lines, or the NHL samples with high tumor cell fraction [18].
  • Ki-1 ALCL differed from other subsets of NHL of childhood by the more frequent involvement of bone, soft tissue, and skin, and by the lack of bone marrow (BM) disease [19].
  • PATIENTS AND METHODS: Fifty-three patients with non-Hodgkin's lymphoma (NHL; n = 43) or Hodgkin's disease (HD; n = 10) received 12.0 Gy of fractionated TBI, etoposide 60 mg/kg, and Cy 100 mg/kg followed by infusion of autologous hematopoietic stem cells [20].

Associations of RTEL1 with chemical compounds

  • Two different conditioning regimens were used for ABMT: carmustine, cyclophosphamide, etoposide, and cytarabine (BAVC) and carmustine, melphalan, etoposide, and cytarabine (BEAM) for NHL and HD, respectively [21].
  • We have utilized two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) coupled with silver stain to identify cellular proteins in human non-Hodgkin's B-lymphoma (NHL) [22].
  • BACKGROUND AND OBJECTIVE: Aim of the study was to assess the efficacy of VEMB, a short-lasting therapeutic regimen (50 days) which alternates two myelotoxic drugs (cyclophosphamide and mitoxantrone) every week with two less hematologically toxic drugs (vincristine and bleomycin) in the treatment of aggressive NHL in the elderly (over 70) [23].
  • PATIENTS AND METHODS: From July 1988 to February 1994, 22 patients (11 men, 11 women) with recurrent NHL received single-agent oxaliplatin (100-130 mg/m2 i.v. over two hours with antiemetic premedication, q three weeks) [24].
  • Clinical trials are ongoing to determine the activity of MGBG in AIDS-associated NHL and other diseases [25].

Analytical, diagnostic and therapeutic context of RTEL1


  1. Multiple monoclonal B cell expansions and c-myc oncogene rearrangements in acquired immune deficiency syndrome-related lymphoproliferative disorders. Implications for lymphomagenesis. Pelicci, P.G., Knowles, D.M., Arlin, Z.A., Wieczorek, R., Luciw, P., Dina, D., Basilico, C., Dalla-Favera, R. J. Exp. Med. (1986) [Pubmed]
  2. TCL1 oncogene expression in AIDS-related lymphomas and lymphoid tissues. Teitell, M., Damore, M.A., Sulur, G.G., Turner, D.E., Stern, M.H., Said, J.W., Denny, C.T., Wall, R. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  3. Primary non-Hodgkin's lymphoma of the intestine: high prevalence of Epstein-Barr virus in Mexican lymphomas as compared with European cases. Quintanilla-Martínez, L., Lome-Maldonado, C., Ott, G., Gschwendtner, A., Gredler, E., Reyes, E., Angeles-Angeles, A., Fend, F. Blood (1997) [Pubmed]
  4. Late mortality in survivors of autologous hematopoietic-cell transplantation: report from the Bone Marrow Transplant Survivor Study. Bhatia, S., Robison, L.L., Francisco, L., Carter, A., Liu, Y., Grant, M., Baker, K.S., Fung, H., Gurney, J.G., McGlave, P.B., Nademanee, A., Ramsay, N.K., Stein, A., Weisdorf, D.J., Forman, S.J. Blood (2005) [Pubmed]
  5. Recombinant human granulocyte-macrophage colony stimulating factor (rh GM-CSF) after bone marrow transplantation. Link, H., Freund, M., Kirchner, H., Stoll, M., Schmid, H., Bucsky, P., Seidel, J., Schulz, G., Schmidt, R.E., Riehm, H. Behring Inst. Mitt. (1988) [Pubmed]
  6. Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Ding, H., Schertzer, M., Wu, X., Gertsenstein, M., Selig, S., Kammori, M., Pourvali, R., Poon, S., Vulto, I., Chavez, E., Tam, P.P., Nagy, A., Lansdorp, P.M. Cell (2004) [Pubmed]
  7. High-dose cyclophosphamide, carmustine, and etoposide followed by allogeneic bone marrow transplantation in patients with lymphoid malignancies who had received prior dose-limiting radiation therapy. Demirer, T., Weaver, C.H., Buckner, C.D., Petersen, F.B., Bensinger, W.I., Sanders, J., Clift, R.A., Lilleby, K., Anasetti, C., Martin, P. J. Clin. Oncol. (1995) [Pubmed]
  8. High-dose cyclophosphamide, carmustine, and etoposide followed by autologous bone marrow transplantation in patients with lymphoid malignancies who have received dose-limiting radiation therapy. Weaver, C.H., Appelbaum, F.R., Petersen, F.B., Clift, R., Singer, J., Press, O., Bensinger, W., Bianco, J., Martin, P., Anasetti, C. J. Clin. Oncol. (1993) [Pubmed]
  9. Fludarabine. An update of its pharmacology and use in the treatment of haematological malignancies. Adkins, J.C., Peters, D.H., Markham, A. Drugs (1997) [Pubmed]
  10. A phase III comparative trial of m-BACOD vs m-BNCOD in the treatment of stage II-IV diffuse non-Hodgkin's lymphomas. Guglielmi, C., Gherlinzoni, F., Amadori, S., Mazza, P., Mantovani, L., Lauria, F., Martelli, M., Zinzani, P.L., Greco, V., Poletti, G. Haematologica (1989) [Pubmed]
  11. The assessment of treatment response in non-Hodgkin's lymphoma by image guided 31P magnetic resonance spectroscopy. Smith, S.R., Martin, P.A., Davies, J.M., Edwards, R.H., Stevens, A.N. Br. J. Cancer (1990) [Pubmed]
  12. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. Bai, C., Connolly, B., Metzker, M.L., Hilliard, C.A., Liu, X., Sandig, V., Soderman, A., Galloway, S.M., Liu, Q., Austin, C.P., Caskey, C.T. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  13. Monoclonal antibody characterization of surface antigens in childhood T-cell lymphoid malignancies. Roper, M., Crist, W.M., Metzgar, R., Ragab, A.H., Smith, S., Starling, K., Pullen, J., Leventhal, B., Bartolucci, A.A., Cooper, M.D. Blood (1983) [Pubmed]
  14. p21/WAF1 cyclin-kinase inhibitor expression in non-Hodgkin's lymphomas: a potential marker of p53 tumor-suppressor gene function. Chilosi, M., Doglioni, C., Magalini, A., Inghirami, G., Krampera, M., Nadali, G., Rahal, D., Pedron, S., Benedetti, A., Scardoni, M., Macrì, E., Lestani, M., Menestrina, F., Pizzolo, G., Scarpa, A. Blood (1996) [Pubmed]
  15. WT1 as a new prognostic factor and a new marker for the detection of minimal residual disease in acute leukemia. Inoue, K., Sugiyama, H., Ogawa, H., Nakagawa, M., Yamagami, T., Miwa, H., Kita, K., Hiraoka, A., Masaoka, T., Nasu, K. Blood (1994) [Pubmed]
  16. Cell cycle kinetics in malignant lymphoma studied with in vivo iododeoxyuridine administration, nuclear Ki-67 staining, and flow cytometry. Brons, P.P., Raemaekers, J.M., Bogman, M.J., van Erp, P.E., Boezeman, J.B., Pennings, A.H., Wessels, H.M., Haanen, C. Blood (1992) [Pubmed]
  17. Frequent p53 gene involvement in splenic B-cell leukemia/lymphomas of possible marginal zone origin. Baldini, L., Fracchiolla, N.S., Cro, L.M., Trecca, D., Romitti, L., Polli, E., Maiolo, A.T., Neri, A. Blood (1994) [Pubmed]
  18. Characterization of clone-specific rearrangement T-cell receptor gamma-chain genes in lymphomas and leukemias by the polymerase chain reaction and DNA sequencing. Kneba, M., Bolz, I., Linke, B., Bertram, J., Rothaupt, D., Hiddemann, W. Blood (1994) [Pubmed]
  19. Successful treatment strategy for Ki-1 anaplastic large-cell lymphoma of childhood: a prospective analysis of 62 patients enrolled in three consecutive Berlin-Frankfurt-Munster group studies. Reiter, A., Schrappe, M., Tiemann, M., Parwaresch, R., Zimmermann, M., Yakisan, E., Dopfer, R., Bucsky, P., Mann, G., Gadner, H. J. Clin. Oncol. (1994) [Pubmed]
  20. High-dose fractionated total-body irradiation, etoposide, and cyclophosphamide followed by autologous stem-cell support in patients with malignant lymphoma. Weaver, C.H., Petersen, F.B., Appelbaum, F.R., Bensinger, W.I., Press, O., Martin, P., Sandmaier, B., Deeg, H.J., Hansen, J.A., Brunvand, M. J. Clin. Oncol. (1994) [Pubmed]
  21. Concomitant and sequential administration of recombinant human granulocyte colony-stimulating factor and recombinant human interleukin-3 to accelerate hematopoietic recovery after autologous bone marrow transplantation for malignant lymphoma. Lemoli, R.M., Rosti, G., Visani, G., Gherlinzoni, F., Miggiano, M.C., Fortuna, A., Zinzani, P., Tura, S. J. Clin. Oncol. (1996) [Pubmed]
  22. Protein studies of human non-Hodgkin's B-lymphoma: appraisal by two-dimensional gel electrophoresis. Mohammad, R.M., Maki, A., Vistisen, K., al-Katib, A. Electrophoresis (1994) [Pubmed]
  23. Weekly administration of vincristine, cyclophosphamide, mitoxantrone and bleomycin (VEMB) in the treatment of elderly aggressive non Hodgkin's lymphoma. Gruppo Italiano per lo Studio dei Linfomi. Merli, F., Federico, M., Avanzini, P., Ilariucci, F., Stelitano, C., Iannitto, E., Colombi, M., Vallisa, D., Santagati, G., Picinini, L. Haematologica (1998) [Pubmed]
  24. Preliminary results on the activity of oxaliplatin (L-OHP) in refractory/recurrent non-Hodgkin's lymphoma patients. Germann, N., Brienza, S., Rotarski, M., Emile, J.F., Di Palma, M., Musset, M., Reynes, M., Soulié, P., Cvitkovic, E., Misset, J.L. Ann. Oncol. (1999) [Pubmed]
  25. MGBG: teaching an old drug new tricks. Von Hoff, D.D. Ann. Oncol. (1994) [Pubmed]
  26. Innovative two-step negative selection of granulocyte colony-stimulating factor-mobilized circulating progenitor cells: adequacy for autologous and allogeneic transplantation. Rambaldi, A., Borleri, G., Dotti, G., Bellavita, P., Amaru, R., Biondi, A., Barbui, T. Blood (1998) [Pubmed]
  27. Epstein-Barr virus genome in non-Hodgkin's lymphomas occurring in immunocompetent patients: highest prevalence in nonlymphoblastic T-cell lymphoma and correlation with a poor prognosis. Danish Lymphoma Study Group, LYFO. d'Amore, F., Johansen, P., Houmand, A., Weisenburger, D.D., Mortensen, L.S. Blood (1996) [Pubmed]
  28. Increased circulating colony-stimulating factor-1 in patients with preleukemia, leukemia, and lymphoid malignancies. Janowska-Wieczorek, A., Belch, A.R., Jacobs, A., Bowen, D., Padua, R.A., Paietta, E., Stanley, E.R. Blood (1991) [Pubmed]
  29. The MDM2 oncogene overexpression in chronic lymphocytic leukemia and low-grade lymphoma of B-cell origin. Watanabe, T., Hotta, T., Ichikawa, A., Kinoshita, T., Nagai, H., Uchida, T., Murate, T., Saito, H. Blood (1994) [Pubmed]
  30. Phase I trial of recombinant immunotoxin RFB4(dsFv)-PE38 (BL22) in patients with B-cell malignancies. Kreitman, R.J., Squires, D.R., Stetler-Stevenson, M., Noel, P., FitzGerald, D.J., Wilson, W.H., Pastan, I. J. Clin. Oncol. (2005) [Pubmed]
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