Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
| Komentáře: | Erratum in: Am J Hum Genet. 2007 Sep;81(3):634. |
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| References: | Endocrinology. 2000 Feb;141(2):839-45. (PMID: 10650967) Structure. 2006 Jan;14(1):159-66. (PMID: 16407075) J Clin Endocrinol Metab. 2000 May;85(5):2028-33. (PMID: 10843192) Hum Mutat. 2001 May;17(5):403-11. (PMID: 11317356) Hum Mutat. 2001 Nov;18(5):460. (PMID: 11668644) Am J Hum Genet. 2006 Jul;79(1):174-9. (PMID: 16773579) EMBO J. 2006 Sep 6;25(17):4131-41. (PMID: 16932748) Eur J Hum Genet. 2002 Jan;10(1):72-6. (PMID: 11896458) Development. 2003 May;130(9):2013-25. (PMID: 12642503) Eur J Hum Genet. 2003 Dec;11(12):916-22. (PMID: 14508505) Am J Med Genet A. 2004 Jan 1;124A(1):1-9. (PMID: 14679580) J Clin Invest. 2004 Jun;113(11):1560-70. (PMID: 15173882) Clin Genet. 2004 Oct;66(4):333-40. (PMID: 15355436) Nucleic Acids Res. 1989 Oct 25;17(20):8390. (PMID: 2813076) Mol Cell Biol. 1994 Apr;14(4):2755-66. (PMID: 8139574) EMBO J. 1994 Oct 17;13(20):5002-12. (PMID: 7957066) Hum Mol Genet. 1995 Nov;4(11):2145-50. (PMID: 8589693) Nat Genet. 1997 Dec;17(4):411-22. (PMID: 9398842) Nat Genet. 1998 Mar;18(3):215-7. (PMID: 9500541) Nat Genet. 1998 Dec;20(4):374-6. (PMID: 9843211) Hum Genet. 1999 Feb;104(2):188-92. (PMID: 10190331) Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9727-32. (PMID: 10449762) Arch Otolaryngol. 1962 Nov;76:401-6. (PMID: 13966825) J Med Genet. 2005 Feb;42(2):159-65. (PMID: 15689455) J Med Genet. 2005 Jul;42(7):588-94. (PMID: 15994881) Biochem J. 2006 Jan 1;393(Pt 1):277-83. (PMID: 16159312) |
| Grant Information: | R01 DC002842 United States DC NIDCD NIH HHS; R01 DC02842 United States DC NIDCD NIH HHS |
| Substance Nomenclature: | 0 (FOXI1 protein, human) 0 (Forkhead Transcription Factors) 0 (Foxi1 protein, mouse) 0 (Membrane Transport Proteins) 0 (SLC26A4 protein, human) 0 (Sulfate Transporters) 0 (Trans-Activators) EC 1.13.12.- (Luciferases) |
| Entry Date(s): | Date Created: 20070516 Date Completed: 20070626 Latest Revision: 20220224 |
| Update Code: | 20240829 |
| PubMed Central ID: | PMC1867094 |
| DOI: | 10.1086/518314 |
| PMID: | 17503324 |
| Autor: | Yang T; Department of Otolaryngology-Head and Neck, University of Iowa, Iowa City, IA 52242, USA., Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ |
| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 2007 Jun; Vol. 80 (6), pp. 1055-63. Date of Electronic Publication: 2007 Apr 23. |
| DOI: | 10.1086/518314 |
| Abstrakt: | Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as "DFNB4," a large percentage of patients with this phenotype lack mutations in the SLC26A4 coding region in one or both alleles. We have identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1, a transcriptional activator of SLC26A4. In nine patients with PS or nonsyndromic EVA, a novel c.-103T-->C mutation in this regulatory element interferes with FOXI1 binding and completely abolishes FOXI1-mediated transcriptional activation. We have also identified six patients with mutations in FOXI1 that compromise its ability to activate SLC26A4 transcription. In one family, the EVA phenotype segregates in a double-heterozygous mode in the affected individual who carries single mutations in both SLC26A4 and FOXI1. This finding is consistent with our observation that EVA occurs in the Slc26a4(+/-); Foxi1(+/-) double-heterozygous mouse mutant. These results support a novel dosage-dependent model for the molecular pathogenesis of PS and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. |
| Databáze: | MEDLINE |
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