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Genetics Home Reference: your guide to understanding genetic conditions
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EYA1

Reviewed January 2008

What is the official name of the EYA1 gene?

The official name of this gene is “EYA transcriptional coactivator and phosphatase 1.”

EYA1 is the gene's official symbol. The EYA1 gene is also known by other names, listed below.

What is the normal function of the EYA1 gene?

The EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.

The EYA1 protein interacts with several other proteins, including a group known as SIX proteins, to activate genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues, including the second branchial arch (a structure that gives rise to tissues in the front and side of the neck) and the eyes, ears, and kidneys.

Does the EYA1 gene share characteristics with other genes?

The EYA1 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the EYA1 gene related to health conditions?

branchiootorenal syndrome - caused by mutations in the EYA1 gene

More than 100 mutations in the EYA1 gene have been identified in people with features of branchiootorenal (BOR) syndrome. Many of these mutations change the 3-dimensional structure of the EYA1 protein, which prevents it from interacting effectively with other proteins. Because these protein interactions are necessary for the activation of certain genes during embryonic development, the altered EYA1 protein disrupts the normal development of many tissues before birth. The major signs and symptoms of branchiootorenal syndrome result from abnormal development of the second branchial arch, ears, and kidneys.

EYA1 mutations have also been found in some people with a condition known as branchiooto (BO) syndrome. This condition includes many of the same features as branchiootorenal syndrome, but affected individuals do not have kidney (renal) malformations. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome). It is unclear why some EYA1 mutations are associated with kidney malformations and others are not.

other disorders - caused by mutations in the EYA1 gene

Several mutations in the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding of the clear front surface of the eye (the cornea). These abnormalities occur without the characteristic features of branchiootorenal syndrome. Researchers believe that the EYA1 mutations responsible for eye abnormalities are less severe than the mutations that underlie branchiootorenal syndrome, and these genetic changes likely affect different functions of the EYA1 protein.

Where is the EYA1 gene located?

Cytogenetic Location: 8q13.3

Molecular Location on chromosome 8: base pairs 71,197,432 to 71,547,648

The EYA1 gene is located on the long (q) arm of chromosome 8 at position 13.3.

The EYA1 gene is located on the long (q) arm of chromosome 8 at position 13.3.

More precisely, the EYA1 gene is located from base pair 71,197,432 to base pair 71,547,648 on chromosome 8.

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 EYA1?

You and your healthcare professional may find the following resources about EYA1 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 EYA1 gene or gene products?

  • BOP
  • BOR
  • EYA1_HUMAN
  • eyes absent 1
  • Eyes absent, Drosophila, homolog of, 1
  • eyes absent homolog 1 (Drosophila)
  • MGC141875

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 EYA1?

branchial arch ; cornea ; embryonic ; gene ; kidney ; phosphatase ; protein ; renal ; syndrome ; transcription ; transcription factor

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

References

  • Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997 Feb;15(2):157-64. (http://www.ncbi.nlm.nih.gov/pubmed/9020840?dopt=Abstract)
  • Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000 Feb 12;9(3):363-6. (http://www.ncbi.nlm.nih.gov/pubmed/10655545?dopt=Abstract)
  • Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004 Jun;23(6):582-9. (http://www.ncbi.nlm.nih.gov/pubmed/15146463?dopt=Abstract)
  • Gene Review: Branchiootorenal Spectrum Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1380)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2138)
  • Okada M, Fujimaru R, Morimoto N, Satomura K, Kaku Y, Tsuzuki K, Nozu K, Okuyama T, Iijima K. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol. 2006 Apr;21(4):475-81. Epub 2006 Feb 21. (http://www.ncbi.nlm.nih.gov/pubmed/16491411?dopt=Abstract)
  • Rayapureddi JP, Hegde RS. Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. FEBS Lett. 2006 Jul 10;580(16):3853-9. Epub 2006 Jun 15. (http://www.ncbi.nlm.nih.gov/pubmed/16797546?dopt=Abstract)
  • Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M. Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet. 2000 Aug;37(8):623-7. (http://www.ncbi.nlm.nih.gov/pubmed/10991693?dopt=Abstract)
  • Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18. (http://www.ncbi.nlm.nih.gov/pubmed/17637804?dopt=Abstract)
  • Zhang Y, Knosp BM, Maconochie M, Friedman RA, Smith RJ. A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. J Assoc Res Otolaryngol. 2004 Sep;5(3):295-304. Epub 2004 Jun 24. (http://www.ncbi.nlm.nih.gov/pubmed/15492887?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: January 2008
Published: December 16, 2014