SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
Identifieur interne : 000106 ( Ncbi/Curation ); précédent : 000105; suivant : 000107SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
Auteurs : Rainer G. Ruf ; Pin-Xian Xu ; Derek Silvius ; Edgar A. Otto ; Frank Beekmann ; Ulla T. Muerb ; Shrawan Kumar ; Thomas J. Neuhaus ; Markus J. Kemper ; Richard M. Raymond ; Patrick D. Brophy ; Jennifer Berkman ; Michael Gattas ; Valentine Hyland ; Eva-Maria Ruf ; Charles Schwartz ; Eugene H. Chang ; Richard J. H. Smith ; Constantine A. Stratakis ; Dominique Weil ; Christine Petit ; Friedhelm HildebrandtSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2004.
Abstract
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or urinary tract are associated. Haploinsufficiency for the human gene
Url:
DOI: 10.1073/pnas.0308475101
PubMed: 15141091
PubMed Central: 419562
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<front><div type="abstract" xml:lang="en"><p>Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or urinary tract are associated. Haploinsufficiency for the human gene <italic>EYA1</italic>
, a homologue of the <italic>Drosophila</italic>
gene <italic>eyes absent</italic>
(<italic>eya</italic>
), causes BOR and BO syndromes. We recently mapped a locus for BOR/BO syndrome (<italic>BOS3</italic>
) to human chromosome 14q23.1. Within the 33-megabase critical genetic interval, we located the <italic>SIX1</italic>
, <italic>SIX4</italic>
, and <italic>SIX6</italic>
genes, which act within a genetic network of <italic>EYA</italic>
and <italic>PAX</italic>
genes to regulate organogenesis. These genes, therefore, represented excellent candidate genes for <italic>BOS3</italic>
. By direct sequencing of exons, we identified three different <italic>SIX1</italic>
mutations in four BOR/BO kindreds, thus identifying <italic>SIX1</italic>
as a gene causing BOR and BO syndromes. To elucidate how these mutations cause disease, we analyzed the functional role of these <italic>SIX1</italic>
mutations with respect to protein–protein and protein–DNA interactions. We demonstrate that all three mutations are crucial for Eya1–Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1–DNA binding. Identification of <italic>SIX1</italic>
mutations as causing BOR/BO offers insights into the molecular basis of otic and renal developmental diseases in humans.</p>
</div>
</front>
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