Human Molecular Genetics, Vol 6, 2247-2255, Copyright © 1997 by Oxford University Press
S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, F Levi-Acobas, C Cruaud, M Le Merrer, M Mathieu, R Konig, J Vigneron, J Weissenbach, C Petit and D Weil
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder,
characterised by the association of branchial, otic and renal anomalies
with variable degrees of severity. We have recently identified EYA1 , a
human homologue of the Drosophila eyes absent gene, as the gene underlying
this syndrome. The products of both genes share a highly conserved 271
amino acid C-terminal region (eyaHR). The eyaHR was also found in the
products of two other human genes (EYA2 and EYA3), demonstrating the
existence of a novel gene family. We report here on the complete genomic
structure of EYA1. This gene consists of 16 coding exons and extends over
156 kb. It encodes various alternatively spliced transcripts differing only
in their 5' regions. Sequence analysis of the entire EYA1 coding region was
performed for 20 unrelated patients affected by BOR syndrome, and six novel
mutations were identified. Among these mutations, two are missense
mutations, highlighting amino acid residues essential for the function of
the EYA1 protein, and one mutation comprises a de novo Alu insertion into
an exon. This insertion presumably occurs by retrotransposition, and the
mobile Alu element has a poly(A) tail that is unstable throughout
generations. To date, 14 mutations have been detected in BOR patients, all
of which are different. However, all the mutations are located within or in
the immediate vicinity of the eyaHR; the significance of this clustering is
discussed.
ARTICLES
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
Unit de Genetique des Deficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris Cedex 15, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. M. Drake, E. C. Ruteshouser, R. Natrajan, P. Harbor, J. Wegert, M. Gessler, K. Pritchard-Jones, P. Grundy, J. Dome, V. Huff, et al. Loss of Heterozygosity at 2q37 in Sporadic Wilms' Tumor: Putative Role for miR-562 Clin. Cancer Res., October 1, 2009; 15(19): 5985 - 5992. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. N. Patrick, B. J. Schiemann, K. Yang, R. Zhao, and H. L. Ford Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations J. Biol. Chem., July 31, 2009; 284(31): 20781 - 20790. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. D. Lee, S.-C. Kim, Y. W. Koh, H.-J. Lee, S.-Y. Choi, and U.-K. Kim A Novel Frameshift Mutation in the EYA1 Gene in a Korean Family with Branchio-Oto-Renal Syndrome Ann. Clin. Lab. Sci., January 1, 2009; 39(3): 303 - 306. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Williams, J. T. Fletcher, S. I. Alexander, and J. C. Craig Vesicoureteral Reflux J. Am. Soc. Nephrol., May 1, 2008; 19(5): 847 - 862. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. A. Clark, J. M. Wahl, C. A. Rees, and K. E. Murphy From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog PNAS, January 31, 2006; 103(5): 1376 - 1381. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Mutsuddi, B. Chaffee, J. Cassidy, S. J. Silver, T. L. Tootle, and I. Rebay Using Drosophila to Decipher How Mutations Associated With Human Branchio-Oto-Renal Syndrome and Optical Defects Compromise the Protein Tyrosine Phosphatase and Transcriptional Functions of Eyes Absent Genetics, June 1, 2005; 170(2): 687 - 695. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Zou, N. K. Osborn, J. J. Harrington, K. K. Klatt, J. R. Molina, L. J. Burgart, and D. A. Ahlquist Frequent Methylation of Eyes Absent 4 Gene in Barrett's Esophagus and Esophageal Adenocarcinoma Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 830 - 834. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Grifone, C. Laclef, F. Spitz, S. Lopez, J. Demignon, J.-E. Guidotti, K. Kawakami, P.-X. Xu, R. Kelly, B. J. Petrof, et al. Six1 and Eya1 Expression Can Reprogram Adult Muscle from the Slow-Twitch Phenotype into the Fast-Twitch Phenotype Mol. Cell. Biol., July 15, 2004; 24(14): 6253 - 6267. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Martinez, M. Rosa, J.-L. Arsuaga, P. Jarabo, R. Quam, C. Lorenzo, A. Gracia, J.-M. Carretero, J.-M. B. de Castro, and E. Carbonell Auditory capacities in Middle Pleistocene humans from the Sierra de Atapuerca in Spain PNAS, July 6, 2004; 101(27): 9976 - 9981. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. G. Ruf, P.-X. Xu, D. Silvius, E. A. Otto, F. Beekmann, U. T. Muerb, S. Kumar, T. J. Neuhaus, M. J. Kemper, R. M. Raymond Jr., et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes PNAS, May 25, 2004; 101(21): 8090 - 8095. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. M. Roy-Engel, A.-H. Salem, O. O. Oyeniran, L. Deininger, D. J. Hedges, G. E. Kilroy, M. A. Batzer, and P. L. Deininger Active Alu Element "A-Tails": Size Does Matter Genome Res., September 1, 2002; 12(9): 1333 - 1344. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. M. Pierides, Y. Athanasiou, K. Demetriou, M. Koptides, and C. C. Deltas A family with the branchio-oto-renal syndrome: clinical and genetic correlations Nephrol. Dial. Transplant., June 1, 2002; 17(6): 1014 - 1018. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Buller, X. Xu, V. Marquis, R. Schwanke, and P.-X. Xu Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome Hum. Mol. Genet., November 1, 2001; 10(24): 2775 - 2781. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Wayne, N. G. Robertson, F. DeClau, N. Chen, K. Verhoeven, S. Prasad, L. Tranebjarg, C. C. Morton, A. F. Ryan, G. Van Camp, et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus Hum. Mol. Genet., February 1, 2001; 10(3): 195 - 200. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. RICKARD, M. BOXER, R. TROMPETER, and M. BITNER-GLINDZICZ Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes J. Med. Genet., August 1, 2000; 37(8): 623 - 627. [Full Text]
|
|
|
|
|
|
J. Dixon, C. Brakebusch, R. Fassler, and M. J. Dixon Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome Hum. Mol. Genet., June 12, 2000; 9(10): 1473 - 1480. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. T. Bui, J. E. Zimmerman, H. Liu, and N. M. Bonini Molecular Analysis of Drosophila eyes absent Mutants Reveals Features of the Conserved Eya Domain Genetics, June 1, 2000; 155(2): 709 - 720. [Abstract] [Full Text]
|
|