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Branchio‐oto‐renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity
Author(s) -
Rayapureddi Jayanagendra P.,
Hegde Rashmi S.
Publication year - 2006
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2006.06.009
Subject(s) - phosphatase , protein tyrosine phosphatase , mutation , gene , biology , genetics , downregulation and upregulation , alkaline phosphatase , microbiology and biotechnology , cancer research , enzyme , phosphorylation , biochemistry
The Eyes Absent (Eya) proteins are tyrosine phosphatases and transcriptional activators involved in cell‐fate determination and organ development. Mutations in the gene encoding Eya homologue 1 have been implicated in the multi‐organ developmental disorder branchio‐oto‐renal syndrome (BOR) and in ocular defects. Here we report that BOR‐associated mutations lead to a loss of phosphatase activity in Eya1 proteins, while mutations associated with ocular defects yield Eya1 proteins with near normal levels of phosphatase activity. Furthermore we demonstrate that the N‐terminal domain attenuates the catalytic activity of Eya suggesting a mechanism of regulation.