Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

Human Molecular Genetics

Volumn 6, Issue 13, 1997, Pages 2247-2255

  Abdelhak, Sonia ^a   Kalatzis, Vasiliki ^a   Heilig, Roland ^b   Compain, Sylvie ^a   Samson, Delphine ^b   Vincent, Christophe ^a   Levi Acobas, Fabienne ^a   Cruaud, Corinne ^b   Le Merrer, Martine ^c   Mathieu, Michèle ^d   König, Rainer ^e   Vigneron, Jacqueline ^f   Weissenbach, Jean ^b   Petit, Christine ^a   Weil, Dominique ^a  

^a CNRS   (France)

^b GÉNÉTHON   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d AMIENS UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^f Maternite Regionale Universitaire   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ALU SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIAL DEFECT; DNA TRANSPOSITION; EAR MALFORMATION; EXON; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; INTRON; KIDNEY MALFORMATION; MISSENSE MUTATION; MULTIGENE FAMILY; POLYADENYLATION; PRIORITY JOURNAL; SYNDROME;

EID: 9844262802     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.13.2247     Document Type: Article

References (49)

1. Melnick, M., Bixler, D., Nance, W., Silk, K. and Yune, H. (1976) Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin. Genet., 9, 25-34.
2. Stoll, C., Roth, M.-P., Hessemann, H. and Paira, M. (1983) La dysplasie branchio-oto-rénale. Arch. Fr. Pédiatr., 40, 763-766.
3. Heimler, A. and Lieber, E. (1986) Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am. J. Med. Genet., 25, 15-27.
4. König, R., Fuchs, S. and Dukiet, C. (1994) Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur. J. Pediatr., 153, 446-450.
5. Fraser, F.C., Sproule, J.R. and Halal, F. (1980) Frequency of the branchiooto-renal (BOR) syndrome in children with profound hearing loss. Am. J. Med. Genet., 7, 341-349.
6. Smith, R.J.H., Coppage, K.B., Ankerstjerne, J.K.B., Capper, D.T., Kumar, S., Kenyon, J., Tinley, S., Comeau, K. and Kimberling, W.J. (1992) Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics, 14, 841-844.
7. Kumar, S., Kimberling, W.J., Kenyon, J.B., Smith, R.J.H., Marres, H.A.M. and Cremers, C.W.R.J. (1992) Autosomal dominant branchio-oto-renal syndrome-localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum. Mol. Genet., 1, 491-495.
8. Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., Pereira, M.d.L., Nivelon, A., Croquette, M.F., Lacombe, D., Vigneron, J., Helias, J., Broyer, M., Callen, D.F., Haan, E.A., Weissenbach, J., Lacroix, B., Bellané-Chantelot, C., Le Paslier, D., Cohen, D. and Petit, C. (1994) A proposed new contiguous gene syndrome on 8q consists of branchiooto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum Mol. Genet., 3, 1859-1866.
9. Ni, L., Wagner, M.J., Kimberling, W.J., Pembrey, M.E., Grundfast, K.M., Kumar, S., Daiger, S.P., Wells, D.E., Johnson, K. and Smith, R.J.H. (1994) Refined localisation of the branchiootorenal syndrome gene by linkage and haplotype analysis. Am. J. Med. Genet., 51, 176-184.
10. Gu, J.Z., Wagner, M.J., Haan, E.A. and Wells, D.E. (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene. Genomics, 31, 201-206.
11. Kalatzis, V., Abdelhak, S., Compain, S., Vincent, C. and Petit, C. (1996) Characterisation of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome. Genomics, 34, 422-425.
12. Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., Bitner-Glindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., Van Regemorter, N., Weissenbach, J. and Petit, C. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet., 15, 157-164.
13. Vincent, C., Kalatzis, V., Abdelhak, S., Chaib, H., Compain, S., Helias, J., Vanecloo, F.-M. and Petit, C. (1997) BOR and BO syndromes are allelic defects of EYAI. Eur. J. Hum. Genet., in press.
14. Xu, P.-X., Woo, I., Her, H., Beier, D.R. and Maas, R.L. (1997) Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development, 124, 219-231.
15. Green, M.R. (1986) Pre-mRNA splicing. Anna. Rev. Genet., 20, 671-708.
16. Jackson, I.J. (1991) A reappraisal of non-consensus mRNA splice sites. Nucleic Acids Res., 19, 3795-3798.
17. Aebi, M., Hornig, H. and Weissmann, C. (1987) 5′ Cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5′ splice region, not by the conserved 5′ GU. Cell, 50, 237-246.
18. Kozak, M. (1996) Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome, 7, 563-574.
19. Quelle, D.E., Zindy, F., Ashmun, R.A. and Sherr, C.J. (1995) Alternative reading frames of the INKA4 tumor supressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell, 83, 993-1000.
20. Sidransky, D. (1996) Cancer genetics: two tracks but one race? Curr. Biol., 6, 523-525.
21. Lamb, R.A. and Horvath, C.M. (1991) Diversity of coding strategies in influenza viruses. Trends Genet., 7, 261-266.
22. Farabaugh, P.J. (1996) Programmed translational frameshifting. Microbiol. Rev., 60, 103-134.
23. Matsufuji, S., Matsufuji, T., Miyazaki, Y., Murakami, Y., Atkins, J.F., Gesteland, R.F. and Hayashi, S.-I. (1995) Autoregulatory frameshifting in decoding mammalian omithine decarboxylase antizyme. Cell, 80, 51-60.
24. Laporte, J., Kioschis, P., Hu, L-J., Kretz, C., Carlsson, B., Poutska, A., Mandel, J.L. and Dahl, N. (1997) Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics, 41, 458-462.
25. Murphy, D., Pardy, K., Seah, V. and Carter, D. (1992) Posttranscriptional regulation of rat growth hormone gene expression: increased message stability and nuclear polyadenylation accompany thyroid hormone depletion. Mol. Cell Biol., 12, 2624-2632.
26. de Sauvage, F., Kruys, V., Marinx, O., Huez, G. and Octave, J.N. (1992) Alternative polyadenylation of the amyloid protein precursor mRNA regulates translation. EMBO J., 11, 3099-3103.
27. Gamier, G., Circolo, A. and Colten, H.R. (1995) Translational regulation of murine complement factor B alternative transcripts by upstream AUG codons. J. Immunol., 154, 3275-3282.
28. West, C.A., Amett, T.R. and Farrow, S.M. (1996) Expression of insulin-like growth factor I (IGF-I) mRNA variants in rat bone Bone, 19, 41-46.
29. Weiner, A.M., Deininger, P.L. and Efstratiadis, A. (1986) Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information. Annu. Rev. Biochem., 55, 631-661.
30. Jurka, J. (1997) Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc. Natl Acad. Sci. USA, 94, 1872-1877.
31. Economou, E.P., Bergen, A.W., Warren, A.C. and Antonarakis, S.E. (1990) The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc. Natl Acad. Sci. USA, 87, 2951-2954.
32. Stoppa-Lyonnet, D., Carter, P., Meo, T. and Tosi, M. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc. Natl Acad. Sci. USA, 87, 1551-1555.
33. Wallace, M.R., Andersen, L.B., Saulino, A.M., Gregory, P.E., Glover, T.W. and Collins, F.S. (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature, 353, 864-868.
34. Muratani, K., Hada, T., Yamamoto, Y, Kaneko, T., Shigeto, Y., Ohue, T., Furuyama, J. and Higashino, K. (1991) Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. Proc. Natl Acad. Sci. USA, 88, 11315-11319.
35. Vidaud, D., Vidaud, M., Bahnak, B.R., Siguret, V., Sanchez, S.G., Laurian, Y., Meyer, D., Goossens, M. and Lavergne, J.M. (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. Eur. J. Hum. Genet., 1, 30-36.
36. Kazazian, H.H., Jr, Wong, C., Youssoufian. H., Scott, A.F., Philips, D.G. and Antonarakis, S.E. (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature, 332, 164-166.
37. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y. Ishikawa, Y., Minami, R., Nakamura, H. and Matsuo, M. (1993) Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J. Clin. Invest., 91, 1862-1867.
38. Takahara, T., Ohsumi, T., Kuromitsu, J., Shibata, K., Sasaki, N., Okazaki, Y., Shibata, H., Sato, S., Yoshiki, A., Kusakabe, M., Muramatsu, M., Ueki, M., Okuda, K. and Hayashizaki, Y. (1996) Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon. Hum. Mol. Genet., 5, 989-993.
39. Hassoun, H., Coetzer, T.L., Vassiliadis, J.N., Sahr, K.E., Maalouf, G.J., Saad, S.T.O., Catanzariti, L. and Palek, J. (1994) A novel mobile element inserted in the a spectrin gene: spectrin Dayton. A truncated a spectrin associated with hereditary elliptocytosis. J. Clin. Invest., 94, 643-648.
40. Jurka, J. (1993) A new subfamily of recently retroposed human Alu repeats. Nucleic Acids Res., 21, 2252.
41. Matera, A.G., Hellmann, U. and Schmid, C.W. (1990) Atranspositionally and transcriptionally competent Alu subfamily. Mol. Cell. Biol., 10, 5424-5432.
42. Tsui, L.-P. (1992) Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum. Mutat., 1, 197-203.
43. Krawczak, M., Reiss, J. and Cooper, D.N. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet., 90, 41-54.
44. Greenberg, C.R., Reimer, D., Singal, R., Triggs-Raine, B., Chudley, A.E., Dilling, L.A., Philipps, S., Haworth, J.C., Seargeant. L.E. and Goodman, S.I. (1995) A G-to-T transversion at the+5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum. Mol. Genet., 4, 493-495.
45. +51VS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am. J. Hum. Genet., 56, 388-395.
46. Haan, E.A., Hull, V.J., White, S., Cockington, R., Charlton, P. and Callen, D.F. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. Am. J. Med. Genet., 32, 490-494.
47. Lévy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X.-Z., Newton, V., Steel, K.P., Brown, S.D.M., Munnich, A., Kaplan, J., Petit, C. and Weil, D. (1997) Myosin VIIA gene : heterogeneity of the mutations responsible for Usher syndrome type IB. Hum. Mol. Genet., 6, 111-116.
48. Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M.D., Kelley, P.M., Kimberling, W.J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K.P., Brown, S.D.M. and Petit, C. (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature, 374, 60-61.
49. Beaudet, A.L. and Tsui, L.-C. (1993) A suggested nomenclature for designating mutations. Hum. Mutai., 2, 245-248.