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. doi: 10.1007/s10162-004-4044-3. Epub 2004 Jun 24.

Abstract

Allele variants of EYA1 and EYA4, two members of the vertebrate Eya gene family, underlie two types of inherited human deafness, branchio-oto-renal (BOR) syndrome and DFNA10, respectively. To clarify how mutations in these two genes and their encoded proteins impact the normal biology of hearing, we completed a number of functional studies using the yeast-two-hybrid system. We verified that bait constructs of the homologous region ( Eya1HR and Eya4HR) interact with Six1 prey constructs, although no interaction with Dach1 prey was demonstrable. To compare interaction affinities, we evaluated alpha-galactosidase activity after cotransformation of Eya1HR/Six1 and Eya4HR/Six1 and found that the latter interaction was weaker. By immunofluorescence staining, we showed Eya4HR localization to the cytoplasm. After coexpression of Six1, Eya4HR was translocated to the nucleus. Results with Eya1HR were similar. Translation of mutant constructs ( Eya4HR(R564X) and Eya1HR(R539X)) could not be demonstrated. Using dual Eya-containing constructs (with two wild-type alleles or wild-type and mutant alleles), we confirmed no translation of the mutant allele, even if the mutation was nontruncating. These results are consistent with clinical data and implicate haploinsufficiency as the cause of BOR syndrome and DFNA10.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Branchio-Oto-Renal Syndrome / genetics*
  • Branchio-Oto-Renal Syndrome / physiopathology*
  • COS Cells
  • Eye Proteins / metabolism
  • Gene Expression Regulation, Developmental
  • Haplotypes
  • Hearing / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Isomerism
  • Kidney / cytology
  • Mice
  • Models, Molecular
  • Mutagenesis, Site-Directed
  • Nuclear Proteins
  • Phenotype
  • Protein Tyrosine Phosphatases
  • Structure-Activity Relationship
  • Trans-Activators / chemistry
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism*
  • Two-Hybrid System Techniques
  • Yeasts / genetics

Substances

  • Dach1 protein, mouse
  • EYA4 protein, human
  • Eye Proteins
  • Homeodomain Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Six1 protein, mouse
  • Trans-Activators
  • EYA1 protein, human
  • Eya1 protein, mouse
  • Protein Tyrosine Phosphatases