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Gene Review

CDC73  -  cell division cycle 73

Homo sapiens

Synonyms: C1orf28, Cell division cycle protein 73 homolog, FIHP, HPTJT, HRPT1, ...
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Disease relevance of CDC73

  • Each syndrome of parathyroid neoplasia associates with characteristic cancer(s): enteropancreatic neuroendocrine or foregut carcinoid tissues (MEN1), thyroidal C cells (MEN2A), or parathyroid (HPT-JT) [1].
  • In light of the strong association between mutations of HRPT2 and sporadic parathyroid carcinoma demonstrated in this study, it is hypothesised that HRPT2 mutation is an early event that may lead to parathyroid malignancy and suggest intragenic mutation of HRPT2 as a marker of malignant potential in both familial and sporadic parathyroid tumours [2].
  • In total, seven novel and one previously reported mutation were identified. "Two-hits" (double mutations or one mutation and loss of heterozygosity at 1q24-32) affecting HRPT2 were found in two sporadic carcinomas, two HPT-JT-related and two FIHP related tumours [2].
  • Furthermore, our findings likely preclude an adenoma to carcinoma progression model for parathyroid tumorigenesis outside of the presence of either a germ-line or somatic HRPT2 mutation [3].
  • A class discovery approach identified three distinct groups: (1) predominantly hyperplasia cluster, (2) HRPT2/carcinoma cluster consisting of sporadic carcinomas and benign and malignant tumors from Hyperparathyroidism-Jaw Tumor Syndrome patients, and (3) adenoma cluster consisting mainly of primary adenoma and MEN 1 tumors [3].
  • Two novel HRPT2 point mutations, causing K34Q and R292K changes in parafibromin, were detected in one clear cell carcinoma and one Wilms tumor, respectively [4].

High impact information on CDC73


Chemical compound and disease context of CDC73

  • All patients resumed their lithium therapy, with 1 of 15 patients developing recurrent hyperparathyroidism 2 years following the first operation; this patient required reexploration, at which time an adenoma was resected [7].

Biological context of CDC73


Anatomical context of CDC73


Associations of CDC73 with chemical compounds

  • In addition, cotransfection data suggest that parafibromin can interact with a histone methyltransferase complex that methylates histone H3 on lysine 4 [17].

Regulatory relationships of CDC73


Other interactions of CDC73


Analytical, diagnostic and therapeutic context of CDC73

  • Immunofluorescence experiments show that parafibromin is a nuclear protein [17].
  • The development of rapid denaturing high performance liquid chromatography mutation scanning of MEN1 and HRPT2 facilitates a molecular diagnosis of the associated familial syndromes for both clinically affected and at-risk family members [20].
  • OBJECTIVE: The objective of this study was early diagnosis of parathyroid tumor in a family with germline HRPT2 mutation [21].
  • To increase our knowledge of the distribution and patterns of expression of parafibromin, we examined its expression and location in many different mouse and human organs by immunohistochemistry [16].
  • Non-morphological techniques, such as Northern and Western blotting and reverse transcriptase-PCR, indicate that parafibromin is ubiquitously expressed, but extensive immunohistochemical studies have not been performed [16].


  1. Hyperparathyroidism in hereditary syndromes: special expressions and special managements. Marx, S.J., Simonds, W.F., Agarwal, S.K., Burns, A.L., Weinstein, L.S., Cochran, C., Skarulis, M.C., Spiegel, A.M., Libutti, S.K., Alexander, H.R., Chen, C.C., Chang, R., Chandrasekharappa, S.C., Collins, F.S. J. Bone Miner. Res. (2002) [Pubmed]
  2. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. Howell, V.M., Haven, C.J., Kahnoski, K., Khoo, S.K., Petillo, D., Chen, J., Fleuren, G.J., Robinson, B.G., Delbridge, L.W., Philips, J., Nelson, A.E., Krause, U., Hammje, K., Dralle, H., Hoang-Vu, C., Gimm, O., Marsh, D.J., Morreau, H., Teh, B.T. J. Med. Genet. (2003) [Pubmed]
  3. Gene expression of parathyroid tumors: molecular subclassification and identification of the potential malignant phenotype. Haven, C.J., Howell, V.M., Eilers, P.H., Dunne, R., Takahashi, M., van Puijenbroek, M., Furge, K., Kievit, J., Tan, M.H., Fleuren, G.J., Robinson, B.G., Delbridge, L.W., Philips, J., Nelson, A.E., Krause, U., Dralle, H., Hoang-Vu, C., Gimm, O., Morreau, H., Marsh, D.J., Teh, B.T. Cancer Res. (2004) [Pubmed]
  4. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. Zhao, J., Yart, A., Frigerio, S., Perren, A., Schraml, P., Weisstanner, C., Stallmach, T., Krek, W., Moch, H. Oncogene (2007) [Pubmed]
  5. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Carpten, J.D., Robbins, C.M., Villablanca, A., Forsberg, L., Presciuttini, S., Bailey-Wilson, J., Simonds, W.F., Gillanders, E.M., Kennedy, A.M., Chen, J.D., Agarwal, S.K., Sood, R., Jones, M.P., Moses, T.Y., Haven, C., Petillo, D., Leotlela, P.D., Harding, B., Cameron, D., Pannett, A.A., Höög, A., Heath, H., James-Newton, L.A., Robinson, B., Zarbo, R.J., Cavaco, B.M., Wassif, W., Perrier, N.D., Rosen, I.B., Kristoffersson, U., Turnpenny, P.D., Farnebo, L.O., Besser, G.M., Jackson, C.E., Morreau, H., Trent, J.M., Thakker, R.V., Marx, S.J., Teh, B.T., Larsson, C., Hobbs, M.R. Nat. Genet. (2002) [Pubmed]
  6. Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Hobbs, M.R., Pole, A.R., Pidwirny, G.N., Rosen, I.B., Zarbo, R.J., Coon, H., Heath, H., Leppert, M., Jackson, C.E. Am. J. Hum. Genet. (1999) [Pubmed]
  7. Parathyroid adenomas versus four-gland hyperplasia as the cause of primary hyperparathyroidism in patients with prolonged lithium therapy. Awad, S.S., Miskulin, J., Thompson, N. World journal of surgery. (2003) [Pubmed]
  8. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. Teh, B.T., Farnebo, F., Twigg, S., Höög, A., Kytölä, S., Korpi-Hyövälti, E., Wong, F.K., Nordenström, J., Grimelius, L., Sandelin, K., Robinson, B., Farnebo, L.O., Larsson, C. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  9. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. Simonds, W.F., Robbins, C.M., Agarwal, S.K., Hendy, G.N., Carpten, J.D., Marx, S.J. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  10. Molecular genetics of primary and secondary hyperparathyroidism. Dotzenrath, C., Goretzki, P.E., Farnebo, F., Teh, B.T., Weber, G., Röher, H.D., Larsson, C. Exp. Clin. Endocrinol. Diabetes (1996) [Pubmed]
  11. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. Warner, J., Epstein, M., Sweet, A., Singh, D., Burgess, J., Stranks, S., Hill, P., Perry-Keene, D., Learoyd, D., Robinson, B., Birdsey, P., Mackenzie, E., Teh, B.T., Prins, J.B., Cardinal, J. J. Med. Genet. (2004) [Pubmed]
  12. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Szabó, J., Heath, B., Hill, V.M., Jackson, C.E., Zarbo, R.J., Mallette, L.E., Chew, S.L., Besser, G.M., Thakker, R.V., Huff, V. Am. J. Hum. Genet. (1995) [Pubmed]
  13. Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. Hahn, M.A., Marsh, D.J. Oncogene (2005) [Pubmed]
  14. Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Woodard, G.E., Lin, L., Zhang, J.H., Agarwal, S.K., Marx, S.J., Simonds, W.F. Oncogene (2005) [Pubmed]
  15. Surveillance for Early Detection of Aggressive Parathyroid Disease: Carcinoma and Atypical Adenoma in Familial Isolated Hyperparathyroidism Associated With a Germline HRPT2 Mutation. Kelly, T.G., Shattuck, T.M., Reyes-Mugica, M., Stewart, A.F., Simonds, W.F., Udelsman, R., Arnold, A., Carpenter, T.O. J. Bone Miner. Res. (2006) [Pubmed]
  16. Immunohistochemical assessment of parafibromin in mouse and human tissues. Porzionato, A., Macchi, V., Barzon, L., Masi, G., Iacobone, M., Parenti, A., Pal??, G., De Caro, R. J. Anat. (2006) [Pubmed]
  17. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Rozenblatt-Rosen, O., Hughes, C.M., Nannepaga, S.J., Shanmugam, K.S., Copeland, T.D., Guszczynski, T., Resau, J.H., Meyerson, M. Mol. Cell. Biol. (2005) [Pubmed]
  18. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Yart, A., Gstaiger, M., Wirbelauer, C., Pecnik, M., Anastasiou, D., Hess, D., Krek, W. Mol. Cell. Biol. (2005) [Pubmed]
  19. Differential expression of the calcium sensing receptor and combined loss of chromosomes 1q and 11q in parathyroid carcinoma. Haven, C.J., van Puijenbroek, M., Karperien, M., Fleuren, G.J., Morreau, H. J. Pathol. (2004) [Pubmed]
  20. Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism. Howell, V.M., Cardinal, J.W., Richardson, A.L., Gimm, O., Robinson, B.G., Marsh, D.J. The Journal of molecular diagnostics : JMD. (2006) [Pubmed]
  21. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. Guarnieri, V., Scillitani, A., Muscarella, L.A., Battista, C., Bonfitto, N., Bisceglia, M., Minisola, S., Mascia, M.L., D'Agruma, L., Cole, D.E. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
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