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Genetics Home Reference: your guide to understanding genetic conditions
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AR

Reviewed May 2008

What is the official name of the AR gene?

The official name of this gene is “androgen receptor.”

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

What is the normal function of the AR gene?

The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones. The receptors are present in many of the body's tissues, where they attach (bind) to androgens. The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. This CAG segment is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 36.

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

androgen insensitivity syndrome - caused by mutations in the AR gene

More than 600 different mutations in the AR gene have been identified in people with androgen insensitivity syndrome. Most of these mutations are changes in single DNA building blocks (base pairs). Other mutations insert or delete multiple base pairs in the gene or affect how the gene is processed into a protein. Some changes in the AR gene lead to an abnormally short version of the androgen receptor protein; others result in the production of an abnormal receptor that cannot bind to androgens or to DNA. As a result, cells that are sensitive to androgens become less responsive to these hormones or unable to use these hormones at all.

Mutations that completely eliminate the function of the androgen receptor cause complete androgen insensitivity syndrome. Genetic changes that significantly reduce but do not eliminate the receptor's activity cause partial androgen insensitivity syndrome. Mild androgen insensitivity syndrome results from changes that only slightly reduce the activity of the receptor.

spinal and bulbar muscular atrophy - caused by mutations in the AR gene

Spinal and bulbar muscular atrophy results from an expansion of the CAG trinucleotide repeat in the AR gene. In people with this disorder, CAG is abnormally repeated from 38 to more than 60 times. Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells. Researchers believe that a fragment of the androgen receptor protein containing the CAG repeats accumulates within these cells and interferes with normal cell functions. This buildup leads to the gradual loss of nerve cells in the brain and spinal cord that control muscle movement.

androgenetic alopecia - associated with the AR gene

Alterations in the AR gene are associated with an increased risk of androgenetic alopecia (also known as male-pattern baldness in men and female-pattern baldness in women). The variations result from small changes in the number or types of DNA building blocks (base pairs) that make up the AR gene. These genetic changes appear to be most frequent in men with hair loss that begins at an early age. Researchers believe that AR gene variations may increase the activity of androgen receptors in the scalp. Although androgenetic alopecia is related to the effects of androgens on hair growth, it remains unclear how changes in the AR gene increase the risk of patterned hair loss in men and women with this condition.

breast cancer - associated with the AR gene

Researchers have considered a possible relationship between the length of the CAG repeat region in the AR gene and a woman's chance of developing breast cancer. The results of research studies have been mixed. Some studies have suggested that a long CAG repeat region is associated with an increased risk of breast cancer in women, and that a shorter CAG repeat region is associated with a reduced risk. Other research indicates that a shorter CAG repeat region may be related to an increased risk of both breast cancer and noncancerous (benign) breast disease. Shorter CAG repeat regions have also been associated with more aggressive forms of breast cancer. Additional research is needed to clarify what role, if any, this region of the AR gene plays in determining breast cancer risk.

other cancers - associated with the AR gene

At least 85 mutations in the AR gene have been associated with prostate cancer. Almost all of these mutations are somatic, which means they develop during a person's life and occur only in certain cells (in this case, cells in the prostate). Somatic mutations are not inherited and are not passed to future generations.

Some studies have shown an increased risk of prostate cancer in men with a short CAG repeat region in the AR gene; however, other studies did not find this connection. Researchers also believe that extra copies of the gene in cancer cells may be associated with the progression of prostate cancers.

Recent studies have also suggested that a longer CAG repeat region in the AR gene may increase the risk of endometrial cancer in women.

Where is the AR gene located?

Cytogenetic Location: Xq12

Molecular Location on the X chromosome: base pairs 67,544,031 to 67,730,618

The AR gene is located on the long (q) arm of the X chromosome at position 12.

The AR gene is located on the long (q) arm of the X chromosome at position 12.

More precisely, the AR gene is located from base pair 67,544,031 to base pair 67,730,618 on the X chromosome.

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 AR?

You and your healthcare professional may find the following resources about AR 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 AR gene or gene products?

  • AIS
  • ANDR_HUMAN
  • androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
  • DHTR
  • HUMARA
  • KD
  • NR3C4
  • SBMA
  • SMAX1
  • TFM

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 AR?

alopecia ; androgens ; atrophy ; benign ; cancer ; cell ; dihydrotestosterone ; DNA ; endometrial ; gene ; inherited ; progression ; prostate ; protein ; puberty ; receptor ; syndrome ; testosterone ; trinucleotide repeat

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

References

  • Adachi H, Katsuno M, Minamiyama M, Waza M, Sang C, Nakagomi Y, Kobayashi Y, Tanaka F, Doyu M, Inukai A, Yoshida M, Hashizume Y, Sobue G. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain. 2005 Mar;128(Pt 3):659-70. Epub 2005 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/15659427?dopt=Abstract)
  • Beitel LK, Scanlon T, Gottlieb B, Trifiro MA. Progress in Spinobulbar muscular atrophy research: insights into neuronal dysfunction caused by the polyglutamine-expanded androgen receptor. Neurotox Res. 2005;7(3):219-30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15897156?dopt=Abstract)
  • Cox DG, Blanché H, Pearce CL, Calle EE, Colditz GA, Pike MC, Albanes D, Allen NE, Amiano P, Berglund G, Boeing H, Buring J, Burtt N, Canzian F, Chanock S, Clavel-Chapelon F, Feigelson HS, Freedman M, Haiman CA, Hankinson SE, Henderson BE, Hoover R, Hunter DJ, Kaaks R, Kolonel L, Kraft P, LeMarchand L, Lund E, Palli D, Peeters PH, Riboli E, Stram DO, Thun M, Tjonneland A, Trichopoulos D, Yeager M; Breast and Prostate Cancer Cohort Consortium. A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Breast Cancer Res. 2006;8(5):R54. (http://www.ncbi.nlm.nih.gov/pubmed/16987421?dopt=Abstract)
  • De Abreu FB, Pirolo LJ, Canevari Rde A, Rosa FE, Moraes Neto FA, Caldeira JR, Rainho CA, Rogatto SR. Shorter CAG repeat in the AR gene is associated with atypical hyperplasia and breast carcinoma. Anticancer Res. 2007 Mar-Apr;27(2):1199-205. (http://www.ncbi.nlm.nih.gov/pubmed/17465263?dopt=Abstract)
  • Ferro P, Catalano MG, Dell'Eva R, Fortunati N, Pfeffer U. The androgen receptor CAG repeat: a modifier of carcinogenesis? Mol Cell Endocrinol. 2002 Jul 31;193(1-2):109-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12161010?dopt=Abstract)
  • Gottlieb B, Beitel LK, Wu J, Elhaji YA, Trifiro M. Nuclear receptors and disease: androgen receptor. Essays Biochem. 2004;40:121-36. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15242343?dopt=Abstract)
  • Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat. 2004 Jun;23(6):527-33. Erratum in: Hum Mutat. 2004 Jul;24(1):102. (http://www.ncbi.nlm.nih.gov/pubmed/15146455?dopt=Abstract)
  • Gottlieb B, Pinsky L, Beitel LK, Trifiro M. Androgen insensitivity. Am J Med Genet. 1999 Dec 29;89(4):210-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10727996?dopt=Abstract)
  • Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 2005 Jul;77(1):140-8. Epub 2005 May 18. (http://www.ncbi.nlm.nih.gov/pubmed/15902657?dopt=Abstract)
  • Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):577-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17161333?dopt=Abstract)
  • Katsuno M, Adachi H, Tanaka F, Sobue G. Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives. J Mol Med (Berl). 2004 May;82(5):298-307. Epub 2004 Feb 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15133611?dopt=Abstract)
  • Lee HJ, Chang C. Recent advances in androgen receptor action. Cell Mol Life Sci. 2003 Aug;60(8):1613-22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14504652?dopt=Abstract)
  • Levy-Nissenbaum E, Bar-Natan M, Frydman M, Pras E. Confirmation of the association between male pattern baldness and the androgen receptor gene. Eur J Dermatol. 2005 Sep-Oct;15(5):339-40. (http://www.ncbi.nlm.nih.gov/pubmed/16172040?dopt=Abstract)
  • Merry DE. Molecular pathogenesis of spinal and bulbar muscular atrophy. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):203-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11719251?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/367)
  • Nyholt DR, Gillespie NA, Heath AC, Martin NG. Genetic basis of male pattern baldness. J Invest Dermatol. 2003 Dec;121(6):1561-4. (http://www.ncbi.nlm.nih.gov/pubmed/14675213?dopt=Abstract)
  • Poletti A, Negri-Cesi P, Martini L. Reflections on the diseases linked to mutations of the androgen receptor. Endocrine. 2005 Dec;28(3):243-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16388114?dopt=Abstract)
  • Sasaki M, Sakuragi N, Dahiya R. The CAG repeats in exon 1 of the androgen receptor gene are significantly longer in endometrial cancer patients. Biochem Biophys Res Commun. 2003 Jun 13;305(4):1105-8. (http://www.ncbi.nlm.nih.gov/pubmed/12767946?dopt=Abstract)
  • Visakorpi T. The molecular genetics of prostate cancer. Urology. 2003 Nov;62(5 Suppl 1):3-10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14607212?dopt=Abstract)
  • Zeegers MP, Kiemeney LA, Nieder AM, Ostrer H. How strong is the association between CAG and GGN repeat length polymorphisms in the androgen receptor gene and prostate cancer risk? Cancer Epidemiol Biomarkers Prev. 2004 Nov;13(11 Pt 1):1765-71. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15533905?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: May 2008
Published: July 28, 2014