The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1α is associated with increased risk for prostate cancer

Prostate

Volumn 67, Issue 1, 2007, Pages 8-13

  Orr Urtreger, Avi ^a,b   Bar Shira, Anat ^a   Matzkin, Haim ^a,b   Mabjeesh, Nicola J ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Germline mutation; HIF 1 ; Jews; Prostate cancer

Indexed keywords

ADENINE; CYTOSINE; GUANINE; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 1BETA; THYMINE;

ARTICLE; CANCER RISK; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; JEW; MALE; MISSENSE MUTATION; MUTATION RATE; PRIORITY JOURNAL; PROSTATE CANCER; PROTEIN DEGRADATION; PROTEIN DOMAIN;

ADULT; AGED; AGED, 80 AND OVER; CELL HYPOXIA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; JEWS; MALE; MIDDLE AGED; OXYGEN; POINT MUTATION; PROLINE; PROSTATIC NEOPLASMS; PROTEIN STRUCTURE, TERTIARY; RISK FACTORS; SERINE;

EID: 33845774278     PISSN: 02704137     EISSN: 10970045     Source Type: Journal    
DOI: 10.1002/pros.20433     Document Type: Article

References (24)

1. Semenza GL. Hydroxylation of HIF-1: Oxygen sensing at the molecular level. Physiology (Bethesda) 2004;19:176-182.
2. Hirota K, Semenza GL. Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases. Biochem Biophys Res Commun 2005;338(1):610-616.
3. Bruick RK, McKnight SL. A conserved family of prolyl-4-hydroxylases that modify HIF. Science 2001;294(5545):1337-1340.
4. Metzen E, Berchner-Pfannschmidt U, Stengel P, Marxsen JH, Stolze I, Klinger M, Huang WQ, Wotzlaw C, Hellwig-Burgel T, Jelkmann W, Acker H, Fandrey J. Intracellular localisation of human HIF-1 alpha hydroxylases: Implications for oxygen sensing. J Cell Sci 2003;116(Pt 7):1319-1326.
5. Epstein AC, Gleadle JM, McNeill LA, Hewitson KS, O'Rourke J, Mole DR, Mukherji M, Metzen E, Wilson MI, Dhanda A, Tian YM, Masson N, Hamilton DL, Jaakkola P, Barstead R, Hodgkin J, Maxwell PH, Pugh CW, Schofield CJ, Ratcliffe PJ. C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell 2001;107(1):43-54.
6. 2 sensing. Science 2001;292(5516):464-468.
7. Semenza GL. Targeting HIF-1 for cancer therapy. Nat Rev Cancer 2003;3(10):721-732.
8. Zhong H, De Marzo AM, Laughner E, Lim M, Hilton DA, Zagzag D, Buechler P, Isaacs WB, Semenza GL, Simons JW. Overexpression of hypoxia-inducible factor 1alpha in common human cancers and their metastases. Cancer Res 1999;59(22):5830-5835.
9. Quintero M, Mackenzie N, Brennan PA. Hypoxia-inducible factor 1 (HIF-1) in cancer. Eur J Surg Oncol 2004;30(5):465-468.
10. Brahimi-Horn MC, Pouyssegur J. The hypoxia-inducible factor and tumor progression along the angiogenic pathway. Int Rev Cytol 2005;242:157-213.
11. Kim W, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor protein: New insights into oxygen sensing and cancer. Curr Opin Genet Dev 2003;13(1):55-60.
12. Anastasiadis AG, Ghafar MA, Salomon L, Vacherot F, Benedit P, Chen MW, Shabsigh A, Burchardt M, Chopin DK, Shabsigh R, Buttyan R. Human hormone-refractory prostate cancers can harbor mutations in the O(2)-dependent degradation domain of hypoxia inducible factor-1alpha (HIF-1alpha). J Cancer Res Clin Oncol 2002;128(7):358-362.
13. Ollerenshaw M, Page T, Hammonds J, Demaine A. Polymorphisms in the hypoxia inducible factor-1alpha gene (HIF1A) are associated with the renal cell carcinoma phenotype. Cancer Genet Cytogenet 2004;153(2):122-126.
14. Kim JH, Jung CW, Cho YH, Lee J, Lee SH, Kim HY, Park J, Park JO, Kim K, Kim WS, Park YS, Im YH, Kang WK, Park K. Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma. Oncol Rep 2005;13(5):859-864.
15. Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, Oue N, Yasui W, Imai K, Nakachi K, Poellinger L, Nishiyama M. Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis 2003;24(11):1779-1783.
16. Chau CH, Permenter MG, Steinberg SM, Retter AS, Dahut WL, Price DK, Figg WD. Polymorphism in the hypoxia-inducible factor 1alpha gene may confer susceptibility to androgen-independent prostate cancer. Cancer Biol Ther 2005;4(11):1222-1225.
17. Fu XS, Choi E, Bubley GJ, Balk SP. Identification of hypoxia-inducible factor-1 alpha (HIF-1alpha) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate 2005;63(3):215-221.
18. Percy MJ, Mooney SM, McMullin MF, Flores A, Lappin TR, Lee FS. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation. Mol Cancer 2003;2:31.
19. Bar-Shira A, Matarasso N, Rosner S, Bercovich D, Matzkin H, Orr-Urtreger A. Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN and KLF6. Prostate 2006;66(10):1052-1060.
20. Orr-Urtreger A, Bar-Shira A, Bercovich D, Matarasso N, Rozovsky U, Rosner S, Soloviov S, Rennert G, Kadouri L, Hubert A, Rennert H, Matzkin H. RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients. Cancer Epidemiol Biomarkers Prev 2006;15(3):474-479.
21. Huss WJ, Hanrahan CF, Barrios RJ, Simons JW, Greenberg NM. Angiogenesis and prostate cancer: Identification of a molecular progression switch. Cancer Res 2001;61(6):2736-2743.
22. Zhong H, Semenza GL, Simons JW, De Marzo AM. Up-regulation of hypoxia-inducible factor 1alpha is an early event in prostate carcinogenesis. Cancer Detect Prev 2004;28(2):88-93.
23. Kuwai T, Kitadai Y, Tanaka S, Kuroda T, Ochiumi T, Matsumura S, Oue N, Yasui W, Kaneyasu M, Tanimoto K, Nishiyama M, Chayama K. Single nucleotide polymorphism in the hypoxia-inducible factor-1alpha gene in colorectal carcinoma. Oncol Rep 2004;12(5):1033-1037.
24. Ling TS, Shi RH, Zhang GX, Zhu H, Yu LZ, Ding XF. Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma. Chin J Dig Dis 2005;6(4):155-158.