CDC73 explained

Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene.^{[1] [2] [3]}

Function

Parafibromin, LEO1, PAF1, and CTR9 form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex.^[4]

Clinical significance

Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT)^[3] and parathyroid carcinomas.^{[5] [6]}

See also

• Primary hyperparathyroidism
• Osteitis fibrosa cystica

External links

• GeneReviews/NCBI/NIH/UW entry on CDC73-Related Disorders

Further reading

• Szabó J, Heath B, Hill VM . Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. . Am. J. Hum. Genet. . 56 . 4 . 944–50 . 1995 . 7717405 . 1801214 . etal.
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Sood R, Bonner TI, Makalowska I . Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. . Genomics . 73 . 2 . 211–22 . 2001 . 11318611 . 10.1006/geno.2001.6500 . etal.
• Hobbs MR, Rosen IB, Jackson CE . Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. . Am. J. Hum. Genet. . 70 . 5 . 1376–7 . 2002 . 11951180 . 10.1086/340093 . 447614 .
• Carpten JD, Robbins CM, Villablanca A . HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. . Nat. Genet. . 32 . 4 . 676–80 . 2003 . 12434154 . 10.1038/ng1048 . 23713328 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Howell VM, Haven CJ, Kahnoski K . HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. . J. Med. Genet. . 40 . 9 . 657–63 . 2003 . 12960210 . 10.1136/jmg.40.9.657 . 1735580 . etal.
• Shattuck TM, Välimäki S, Obara T . Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. . N. Engl. J. Med. . 349 . 18 . 1722–9 . 2003 . 14585940 . 10.1056/NEJMoa031237 . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Simonds WF, Robbins CM, Agarwal SK . Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. . J. Clin. Endocrinol. Metab. . 89 . 1 . 96–102 . 2004 . 14715834 . 10.1210/jc.2003-030675 . etal. free .
• Warner J, Epstein M, Sweet A . Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. . J. Med. Genet. . 41 . 3 . 155–60 . 2004 . 14985373 . 10.1136/jmg.2003.016725 . 1735699 . etal.
• Villablanca A, Calender A, Forsberg L . Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). . J. Med. Genet. . 41 . 3 . 32e–32 . 2004 . 14985403 . 10.1136/jmg.2003.012369 . 1735713 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 221 . 2004 . 15046050 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 222 . 2004 . 15046094 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 222 . 2004 . 15046098 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 223 . 2004 . 15046102 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 223 . 2004 . 15046105 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 223 . 2004 . 15046107 . 10.1007/s00439-003-1060-z . 266016097 . etal.
• Teh BT, Howell VM, Haven CJ . Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. . Hum. Genet. . 114 . 2 . 224 . 2004 . 15046109 . 10.1007/s00439-003-1060-z . 266016097 . etal.

Notes and References

1. Web site: Entrez Gene: CDC73 Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae).
2. Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD . Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus . Genomics . 73 . 2 . 211–22 . April 2001 . 11318611 . 10.1006/geno.2001.6500 .
3. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR . Rajesh Thakker . HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome . Nat. Genet. . 32 . 4 . 676–80 . December 2002 . 12434154 . 10.1038/ng1048 . 23713328 .
4. Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, Shanmugam KS, Copeland TD, Guszczynski T, Resau JH, Meyerson M . The parafibromin tumor suppressor protein is part of a human Paf1 complex . Mol. Cell. Biol. . 25 . 2 . 612–20 . January 2005 . 15632063 . 543415 . 10.1128/MCB.25.2.612-620.2005 .
5. Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A . Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma . N. Engl. J. Med. . 349 . 18 . 1722–9 . October 2003 . 14585940 . 10.1056/NEJMoa031237 . free .
6. Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H, Teh BT . HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours . J. Med. Genet. . 40 . 9 . 657–63 . September 2003 . 12960210 . 1735580 . 10.1136/jmg.40.9.657.