EYA1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/eya1

EYA transcriptional coactivator and phosphatase 1

genes

1. Normal Function

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 turn on (activate) and turn off (inactivate) genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck, and the eyes, ears, and kidneys. After birth, these interactions are important for normal organ function.

2. Health Conditions Related to Genetic Changes

2.1 Branchiootorenal/branchiootic Syndrome

At least 160 mutations in the EYA1 gene have been identified in people with branchiootorenal (BOR) syndrome, a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. EYA1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same features as BOR syndrome except for kidney (renal) malformations. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

Many of the mutations that cause BOR/BO syndrome 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 impairs the normal development of many tissues before birth. The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, and (in BOR syndrome) the kidneys.

In some cases, the same EYA1 gene mutation causes BOR syndrome in some members of a family and BO syndrome in others. This variability might result from changes in other, unidentified genes that affect how the EYA1 protein functions in the kidneys.

2.2 Congenital Anomalies of Kidney and Urinary Tract

2.3 Other Disorders

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 BOR/BO syndrome. Researchers believe that the EYA1 gene mutations responsible for eye abnormalities have less severe effects on protein function than the mutations that underlie BOR/BO syndrome.

3. Other Names for This Gene

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

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 underliesbranchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997 Feb;15(2):157-64.
Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a humanhomologue of the Drosophila eyes absent gene (EYA1) detected in patients withcongenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000Feb 12;9(3):363-6.
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 phenotypicconsequences. Hum Mutat. 2004 Jun;23(6):582-9.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D,Salomon R, Antignac C, Heidet L. Mutation screening of the EYA1, SIX1, and SIX5genes in a large cohort of patients harboring branchio-oto-renal syndrome callsinto question the pathogenic role of SIX5 mutations. Hum Mutat. 2011Feb;32(2):183-90. doi: 10.1002/humu.21402.
Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ. Branchio-oto-renal syndrome (BOR):novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.
Rayapureddi JP, Hegde RS. Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. FEBS Lett. 2006 Jul10;580(16):3853-9.
Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D,Yonath H, Hall S, Power P, Semina EV. Whole exome sequencing in dominant cataractidentifies a new causative factor, CRYBA2, and a variety of novel alleles inknown genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0.
Smith RJH. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [updated 2018 Sep6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1380/

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Vivi Li

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