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词条 CDC73
释义

  1. Function

  2. Clinical significance

  3. See also

  4. References

  5. External links

  6. Further reading

{{Infobox_gene}}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

References

1. ^{{cite web | title = Entrez Gene: CDC73 Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79577| accessdate = }}
2. ^{{cite journal | vauthors = 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 | title = Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus | journal = Genomics | volume = 73 | issue = 2 | pages = 211–22 |date=April 2001 | pmid = 11318611 | doi = 10.1006/geno.2001.6500 | url = }}
3. ^1 {{cite journal | vauthors = 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 | author37-link = Rajesh Thakker | title = HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome | journal = Nat. Genet. | volume = 32 | issue = 4 | pages = 676–80 |date=December 2002 | pmid = 12434154 | doi = 10.1038/ng1048 | url = }}
4. ^{{cite journal | vauthors = Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, Shanmugam KS, Copeland TD, Guszczynski T, Resau JH, Meyerson M | title = The parafibromin tumor suppressor protein is part of a human Paf1 complex | journal = Mol. Cell. Biol. | volume = 25 | issue = 2 | pages = 612–20 |date=January 2005 | pmid = 15632063 | pmc = 543415 | doi = 10.1128/MCB.25.2.612-620.2005 | url = }}
5. ^{{cite journal | vauthors = 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 | title = Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma | journal = N. Engl. J. Med. | volume = 349 | issue = 18 | pages = 1722–9 |date=October 2003 | pmid = 14585940 | doi = 10.1056/NEJMoa031237 | url = }}
6. ^{{cite journal | vauthors = 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 | title = HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours | journal = J. Med. Genet. | volume = 40 | issue = 9 | pages = 657–63 |date=September 2003 | pmid = 12960210 | pmc = 1735580 | doi = 10.1136/jmg.40.9.657| url = http://jmg.bmj.com/cgi/content/full/40/9/657 }}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hrpt2 GeneReviews/NCBI/NIH/UW entry on CDC73-Related Disorders]

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Szabó J, Heath B, Hill VM |title=Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. |journal=Am. J. Hum. Genet. |volume=56 |issue= 4 |pages= 944–50 |year= 1995 |pmid= 7717405 |doi= | pmc=1801214 |display-authors=etal}}
  • {{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
  • {{cite journal | vauthors=Sood R, Bonner TI, Makalowska I |title=Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. |journal=Genomics |volume=73 |issue= 2 |pages= 211–22 |year= 2001 |pmid= 11318611 |doi= 10.1006/geno.2001.6500 |display-authors=etal}}
  • {{cite journal | vauthors=Hobbs MR, Rosen IB, Jackson CE |title=Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1376–7 |year= 2002 |pmid= 11951180 |doi=10.1086/340093 | pmc=447614 }}
  • {{cite journal | vauthors=Carpten JD, Robbins CM, Villablanca A |title=HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. |journal=Nat. Genet. |volume=32 |issue= 4 |pages= 676–80 |year= 2003 |pmid= 12434154 |doi= 10.1038/ng1048 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal | vauthors=Howell VM, Haven CJ, Kahnoski K |title=HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. |journal=J. Med. Genet. |volume=40 |issue= 9 |pages= 657–63 |year= 2003 |pmid= 12960210 |doi=10.1136/jmg.40.9.657 | pmc=1735580 |display-authors=etal}}
  • {{cite journal | vauthors=Shattuck TM, Välimäki S, Obara T |title=Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. |journal=N. Engl. J. Med. |volume=349 |issue= 18 |pages= 1722–9 |year= 2003 |pmid= 14585940 |doi= 10.1056/NEJMoa031237 |display-authors=etal}}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal | vauthors=Simonds WF, Robbins CM, Agarwal SK |title=Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 1 |pages= 96–102 |year= 2004 |pmid= 14715834 |doi=10.1210/jc.2003-030675 |display-authors=etal}}
  • {{cite journal | vauthors=Warner J, Epstein M, Sweet A |title=Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. |journal=J. Med. Genet. |volume=41 |issue= 3 |pages= 155–60 |year= 2004 |pmid= 14985373 |doi=10.1136/jmg.2003.016725 | pmc=1735699 |display-authors=etal}}
  • {{cite journal | vauthors=Villablanca A, Calender A, Forsberg L |title=Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). |journal=J. Med. Genet. |volume=41 |issue= 3 |pages= e32 |year= 2004 |pmid= 14985403 |doi=10.1136/jmg.2003.012369 | pmc=1735713 |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 221 |year= 2004 |pmid= 15046050 |doi=10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 222 |year= 2004 |pmid= 15046094 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 222 |year= 2004 |pmid= 15046098 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 223 |year= 2004 |pmid= 15046102 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 223 |year= 2004 |pmid= 15046105 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 223 |year= 2004 |pmid= 15046107 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
  • {{cite journal | vauthors=Teh BT, Howell VM, Haven CJ |title=Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. |journal=Hum. Genet. |volume=114 |issue= 2 |pages= 224 |year= 2004 |pmid= 15046109 |doi= 10.1007/s00439-003-1060-z |display-authors=etal}}
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