Eyes absent homolog 1 explained

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.^{[1] [2]}

This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene.

Interactions

EYA1 has been shown to interact with SIX1.^[3]

Further reading

• Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M . Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements . Proc. Natl. Acad. Sci. U.S.A. . 87 . 4 . 1551–5 . 1990 . 2154751 . 10.1073/pnas.87.4.1551 . 53513 . 1990PNAS...87.1551S . free .
• Vincent C, Kalatzis V, Abdelhak S . BOR and BO syndromes are allelic defects of EYA1 . Eur. J. Hum. Genet. . 5 . 4 . 242–6 . 1998 . 9359046 . 10.1159/000484770. etal.
• Abdelhak S, Kalatzis V, Heilig R . Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 . Hum. Mol. Genet. . 6 . 13 . 2247–55 . 1998 . 9361030 . 10.1093/hmg/6.13.2247 . etal. free .
• Pignoni F, Hu B, Zavitz KH . The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development . Cell . 91 . 7 . 881–91 . 1998 . 9428512 . 10.1016/S0092-8674(00)80480-8 . 269908 . etal. free .
• Kumar S, Kimberling WJ, Weston MD . Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome . Hum. Mutat. . 11 . 6 . 443–9 . 1998 . 9603436 . 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S . 26027737 . etal. free .
• Kalatzis V, Sahly I, El-Amraoui A, Petit C . Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome . Dev. Dyn. . 213 . 4 . 486–99 . 1999 . 9853969 . 10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L . 20398554 .
• Kumar S, Deffenbacher K, Cremers CW . Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing . Genet. Test. . 1 . 4 . 243–51 . 1999 . 10464653 . 10.1089/gte.1997.1.243 . etal.
• Ohto H, Kamada S, Tago K . Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya . Mol. Cell. Biol. . 19 . 10 . 6815–24 . 1999 . 10490620 . 10.1128/mcb.19.10.6815. 84678 . etal.
• Azuma N, Hirakiyama A, Inoue T . 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. . 9 . 3 . 363–6 . 2000 . 10655545 . 10.1093/hmg/9.3.363 . etal. free .
• 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. . 37 . 8 . 623–7 . 2000 . 10991693 . 10.1136/jmg.37.8.623 . 1734672 .
• Rickard S, Parker M, van't Hoff W . Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM . Hum. Genet. . 108 . 5 . 398–403 . 2001 . 11409867 . 10.1007/s004390100495 . 8451069 . etal.
• Namba A, Abe S, Shinkawa H . Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis . J. Hum. Genet. . 46 . 9 . 518–21 . 2001 . 11558900 . 10.1007/s100380170033 . etal. free .
• Fukuda S, Kuroda T, Chida E . A family affected by branchio-oto syndrome with EYA1 mutations . Auris Nasus Larynx . 28 Suppl . S7–11 . 2002 . 11683347 . 10.1016/s0385-8146(01)00082-7. etal.
• Buller C, Xu X, Marquis V . Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome . Hum. Mol. Genet. . 10 . 24 . 2775–81 . 2002 . 11734542 . 10.1093/hmg/10.24.2775 . etal. free .
• Ozaki H, Watanabe Y, Ikeda K, Kawakami K . Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins . J. Hum. Genet. . 47 . 3 . 107–16 . 2002 . 11950062 . 10.1007/s100380200011 . free .
• Xu PX, Zheng W, Laclef C . Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid . Development . 129 . 13 . 3033–44 . 2002 . 10.1242/dev.129.13.3033 . 12070080 . 3873877 . etal.
• Vervoort VS, Smith RJ, O'Brien J . Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome . Eur. J. Hum. Genet. . 10 . 11 . 757–66 . 2003 . 12404110 . 10.1038/sj.ejhg.5200877 . etal. free .
• Fougerousse F, Durand M, Lopez S . Six and Eya expression during human somitogenesis and MyoD gene family activation . J. Muscle Res. Cell. Motil. . 23 . 3 . 255–64 . 2003 . 12500905 . 10.1023/A:1020990825644 . 42497614 . etal.
• Yashima T, Noguchi Y, Ishikawa K . Mutation of the EYA1 gene in patients with branchio-oto syndrome . Acta Otolaryngol. . 123 . 2 . 279–82 . 2003 . 12701758 . 10.1080/0036554021000028103 . 24399383 . etal.

Notes and References

1. 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 . 15 . 2 . 157–64 . Mar 1997 . 9020840 . 10.1038/ng0297-157 . 28527865 .
2. Web site: Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila).
3. Buller . C . Xu X. Marquis V. Schwanke R. Xu P X . Nov 2001 . Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome . Hum. Mol. Genet. . 10 . 24 . 2775–81 . England. 0964-6906. 11734542 . 10.1093/hmg/10.24.2775 . free .