A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Research Abstract Details 

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A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Abstract Text:

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.

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Publishing Authors By Initials

For similar fungi: yeasts research abstracts see: fungi: yeasts research

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A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Journal of the Association for Research in Otolary

VOLUME: 5

Page Numbers: 295-304

Journal Abbreviation: J. Assoc. Res. Otolaryngol.

ISSN: 1525-3961

DAY: 24

MONTH: 06

YEAR: 2004

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Information

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LANGUAGE: eng

NlmUniqueID: 100892857

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Keywords Mesh Terms:

KEYWORDS: Yeasts

MESH TERMS: genetics

Chemical & Substance for Abstract: A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. Information

Substance Name: Protein Tyrosine Phosphatases

Registry Number: EC 3.1.3.48

Grant and Affiliation Information for A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

AFFILIATION: Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA 52242, USA.

Country: United States

AGENCY: United States NIDCD

GRANT: R01-DC03544

ACRONYM: DC

MEDLINETA: J Assoc Res Otolaryngol

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