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Genetics Home Reference: your guide to understanding genetic conditions
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DPYD

Reviewed November 2011

What is the official name of the DPYD gene?

The official name of this gene is “dihydropyrimidine dehydrogenase.”

DPYD is the gene's official symbol. The DPYD gene is also known by other names, listed below.

What is the normal function of the DPYD gene?

The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine when they are not needed. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

Dihydropyrimidine dehydrogenase is involved in the first step of the breakdown of pyrimidines. This enzyme converts uracil to another molecule called 5,6-dihydrouracil and converts thymine to 5,6-dihydrothymine. The molecules created when pyrimidines are broken down are excreted by the body or used in other cellular processes.

How are changes in the DPYD gene related to health conditions?

dihydropyrimidine dehydrogenase deficiency - caused by mutations in the DPYD gene

More than 50 mutations in the DPYD gene have been identified in people with dihydropyrimidine dehydrogenase deficiency. DPYD gene mutations interfere with the breakdown of uracil and thymine and result in excess quantities of these molecules in the blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). It is unclear how the excess uracil and thymine are related to the specific neurological problems that affect some people with dihydropyrimidine dehydrogenase deficiency.

Mutations in the DPYD gene also interfere with the breakdown of drugs with structures similar to the pyrimidines, such as the cancer drugs 5-fluorouracil and capecitabine. As a result, these drugs accumulate in the body and cause the severe reactions that can occur in people with dihydropyrimidine dehydrogenase deficiency.

Where is the DPYD gene located?

Cytogenetic Location: 1p22

Molecular Location on chromosome 1: base pairs 97,077,742 to 97,921,058

The DPYD gene is located on the short (p) arm of chromosome 1 at position 22.

The DPYD gene is located on the short (p) arm of chromosome 1 at position 22.

More precisely, the DPYD gene is located from base pair 97,077,742 to base pair 97,921,058 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DPYD?

You and your healthcare professional may find the following resources about DPYD helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DPYD gene or gene products?

  • DHP
  • DHPDHASE
  • dihydropyrimidine dehydrogenase [NADP+]
  • dihydrothymine dehydrogenase
  • dihydrouracil dehydrogenase
  • DPD
  • DPYD_HUMAN
  • MGC132008
  • MGC70799

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DPYD?

ATP ; breakdown ; cancer ; cell ; deficiency ; dehydrogenase ; DNA ; enzyme ; gene ; GTP ; molecule ; neurological ; nucleotide ; pharmacogenetics ; pyrimidines ; RNA ; thymine ; uracil

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Al-Sanna'a NA, Van Kuilenburg AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Dihydropyrimidine dehydrogenase deficiency presenting at birth. J Inherit Metab Dis. 2005;28(5):793-6. (http://www.ncbi.nlm.nih.gov/pubmed/16151913?dopt=Abstract)
  • Ciccolini J, Gross E, Dahan L, Lacarelle B, Mercier C. Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope? Clin Colorectal Cancer. 2010 Oct;9(4):224-8. doi: 10.3816/CCC.2010.n.033. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20920994?dopt=Abstract)
  • Mattison LK, Fourie J, Desmond RA, Modak A, Saif MW, Diasio RB. Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. Clin Cancer Res. 2006 Sep 15;12(18):5491-5. (http://www.ncbi.nlm.nih.gov/pubmed/17000684?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1806)
  • OMIM: DIHYDROPYRIMIDINE DEHYDROGENASE (http://omim.org/entry/612779)
  • Saif MW, Mattison L, Carollo T, Ezzeldin H, Diasio RB. Dihydropyrimidine dehydrogenase deficiency in an Indian population. Cancer Chemother Pharmacol. 2006 Sep;58(3):396-401. Epub 2006 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/16421754?dopt=Abstract)
  • van Kuilenburg AB, De Abreu RA, van Gennip AH. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. Ann Clin Biochem. 2003 Jan;40(Pt 1):41-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12542909?dopt=Abstract)
  • van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, Maropoulos GD, Hein G, Kalhoff H, Kirk JM, Baaske H, Aukett A, Duley JA, Ward KP, Lindqvist Y, van Gennip AH. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J. 2002 May 15;364(Pt 1):157-63. (http://www.ncbi.nlm.nih.gov/pubmed/11988088?dopt=Abstract)
  • van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19. (http://www.ncbi.nlm.nih.gov/pubmed/19296131?dopt=Abstract)
  • Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet. 1999 Jan;104(1):1-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10071185?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2011
Published: August 18, 2014