EYA1

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Eyes absent homolog 1 (Drosophila)
Identifiers
Symbol(s) EYA1; BOP; BOR; MGC141875
External IDs OMIM: 601653 MGI: 109344 Homologene: 74943
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 2138 14048
Ensembl ENSG00000104313 ENSMUSG00000025932
Uniprot Q99502 P97767
Refseq NM_000503 (mRNA)
NP_000494 (protein) 		NM_010164 (mRNA)
NP_034294 (protein)
Location Chr 8: 72.27 - 72.44 Mb Chr 1: 14.15 - 14.3 Mb
Pubmed search [1] [2]

Eyes absent homolog 1 (Drosophila), also known as EYA1, is a human gene.[1]


This gene encodes a member of the eyes absent (EYA) family 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.[1]


References

Further reading

  • Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990). "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. PMID 2154751.
  • Abdelhak S, Kalatzis V, Heilig R, et al. (1997). "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. doi:10.1038/ng0297-157. PMID 9020840.
  • Vincent C, Kalatzis V, Abdelhak S, et al. (1998). "BOR and BO syndromes are allelic defects of EYA1.". Eur. J. Hum. Genet. 5 (4): 242-6. PMID 9359046.
  • Abdelhak S, Kalatzis V, Heilig R, et al. (1998). "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. PMID 9361030.
  • Pignoni F, Hu B, Zavitz KH, et al. (1998). "The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development.". Cell 91 (7): 881-91. PMID 9428512.
  • Kumar S, Kimberling WJ, Weston MD, et al. (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.". Hum. Mutat. 11 (6): 443-9. doi:<443::AID-HUMU4>3.0.CO;2-S 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S. PMID 9603436.
  • Kalatzis V, Sahly I, El-Amraoui A, Petit C (1999). "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. doi:<486::AID-AJA13>3.0.CO;2-L 10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L. PMID 9853969.
  • Kumar S, Deffenbacher K, Cremers CW, et al. (1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.". Genet. Test. 1 (4): 243-51. PMID 10464653.
  • Ohto H, Kamada S, Tago K, et al. (2000). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya.". Mol. Cell. Biol. 19 (10): 6815-24. PMID 10490620.
  • Azuma N, Hirakiyama A, Inoue T, et al. (2000). "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. PMID 10655545.
  • Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M (2000). "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.". J. Med. Genet. 37 (8): 623-7. PMID 10991693.
  • Rickard S, Parker M, van't Hoff W, et al. (2001). "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. PMID 11409867.
  • Namba A, Abe S, Shinkawa H, et al. (2001). "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.". J. Hum. Genet. 46 (9): 518-21. PMID 11558900.
  • Fukuda S, Kuroda T, Chida E, et al. (2002). "A family affected by branchio-oto syndrome with EYA1 mutations.". Auris, nasus, larynx 28 Suppl: S7-11. PMID 11683347.
  • Buller C, Xu X, Marquis V, et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.". Hum. Mol. Genet. 10 (24): 2775-81. PMID 11734542.
  • Ozaki H, Watanabe Y, Ikeda K, Kawakami K (2002). "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. PMID 11950062.
  • Xu PX, Zheng W, Laclef C, et al. (2002). "Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid.". Development 129 (13): 3033-44. PMID 12070080.
  • Vervoort VS, Smith RJ, O'Brien J, et al. (2003). "Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.". Eur. J. Hum. Genet. 10 (11): 757-66. doi:10.1038/sj.ejhg.5200877. PMID 12404110.
  • Fougerousse F, Durand M, Lopez S, et al. (2003). "Six and Eya expression during human somitogenesis and MyoD gene family activation.". J. Muscle Res. Cell. Motil. 23 (3): 255-64. PMID 12500905.
  • Yashima T, Noguchi Y, Ishikawa K, et al. (2003). "Mutation of the EYA1 gene in patients with branchio-oto syndrome.". Acta Otolaryngol. 123 (2): 279-82. PMID 12701758.
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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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