Disease relevance of EYA2

• Therefore, this study suggests an important role of EYA2 in ovarian cancer and its potential application as a therapeutic target [1].
• Due to different translation start sites on the four unique transcripts, two isoforms of EYA2 protein (one previously identified and one novel) could be generated in neuroblastoma cells, but the sole EYA2 transcript expressed in the eye can only encode the novel isoform [2].

High impact information on EYA2

• A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family [3].
• Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation [4].
• EYA2 was amplified in 14.8% of ovarian carcinomas, as detected by array-based comparative genomic hybridization (n = 88) [1].
• Activated Galpha(z) and Galpha(i2) prevent Eya2 translocation and inhibit Six/Eya2-mediated activation of a reporter gene controlled through the MEF3/TATA promoter [5].
• In addition, Eya2 impinged on G protein-mediated signaling, as evidenced by its ability to relieve Galphai2-mediated inhibition of adenylyl cyclase [6].

Biological context of EYA2

• Finally, the alternative EYA2 transcripts have dissimilar numbers of upstream open reading frames in their 5'-untranslated regions [2].
• Interestingly, primary human MSC were found to upregulate a number of genes important for embryogenesis such as distal-less homeo box 5, Eyes absent homolog 2, inhibitor of DNA binding 3, and LIM protein [7].

Anatomical context of EYA2

• Interestingly, EYA2 was expressed in several neuroblastoma cell lines as four distinct transcripts having alternative 5'-ends, whereas only one EYA2 transcript was expressed in the normal human eye [2].

Analytical, diagnostic and therapeutic context of EYA2

• EYA2 was found to function as transcriptional activator in ovarian cancer cells by Gal4 assay and to promote tumor growth in vivo in xenograft models [1].
• EYA2 mRNA was found to be up-regulated in ovarian cancer by real-time reverse transcription-PCR, whereas its protein product was detected in 93.6% of ovarian cancer specimens by immunohistochemistry (n = 140) [1].
• The gene for eyes absent 2 (EYA2) was screened for mutations by direct automated sequencing and Southern blot analysis [8].

References