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The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.
Biochem Biophys Res Commun. 2001 Aug 03; 285(5):1200-5.BB

Abstract

Microphthalmia-associated transcription factor (MITF) is essential for melanocyte differentiation. MITF mutations are associated with some cases of Waardenburg syndrome (WS) type 2. WS is a dominantly inherited disease characterized by auditory-pigmentary defects that result from the absence of melanocytes. The lack of mutation in MITF coding sequences in some WS2 patients suggests that unidentified factors controlling MITF expression might be involved. We show here that the cut-homeodomain transcription factor Onecut-2 (OC-2) is expressed in melanocytes and binds to the MITF gene promoter. Overexpression of OC-2 in transfected cells stimulates MITF promoter activity. Mutations that prevent OC-2 binding decrease MITF promoter activity by 75%. Based on these results, we searched in 56 WS2 patients for mutations in the OC2 gene or in OC-2 binding sites in the MITF promoter, but none was found. These results show that OC-2 stimulates MITF expression and that OC2 is a candidate gene, but not a common cause, of WS.

Authors+Show Affiliations

Hormone and Metabolic Research Unit, Université Catholique de Louvain and Institute of Cellular Pathology, Avenue Hippocrate 75, Brussels, B-1200, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11478782

Citation

Jacquemin, P, et al. "The Transcription Factor Onecut-2 Controls the Microphthalmia-associated Transcription Factor Gene." Biochemical and Biophysical Research Communications, vol. 285, no. 5, 2001, pp. 1200-5.
Jacquemin P, Lannoy VJ, O'Sullivan J, et al. The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun. 2001;285(5):1200-5.
Jacquemin, P., Lannoy, V. J., O'Sullivan, J., Read, A., Lemaigre, F. P., & Rousseau, G. G. (2001). The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. Biochemical and Biophysical Research Communications, 285(5), 1200-5.
Jacquemin P, et al. The Transcription Factor Onecut-2 Controls the Microphthalmia-associated Transcription Factor Gene. Biochem Biophys Res Commun. 2001 Aug 3;285(5):1200-5. PubMed PMID: 11478782.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. AU - Jacquemin,P, AU - Lannoy,V J, AU - O'Sullivan,J, AU - Read,A, AU - Lemaigre,F P, AU - Rousseau,G G, PY - 2001/8/2/pubmed PY - 2001/9/14/medline PY - 2001/8/2/entrez SP - 1200 EP - 5 JF - Biochemical and biophysical research communications JO - Biochem Biophys Res Commun VL - 285 IS - 5 N2 - Microphthalmia-associated transcription factor (MITF) is essential for melanocyte differentiation. MITF mutations are associated with some cases of Waardenburg syndrome (WS) type 2. WS is a dominantly inherited disease characterized by auditory-pigmentary defects that result from the absence of melanocytes. The lack of mutation in MITF coding sequences in some WS2 patients suggests that unidentified factors controlling MITF expression might be involved. We show here that the cut-homeodomain transcription factor Onecut-2 (OC-2) is expressed in melanocytes and binds to the MITF gene promoter. Overexpression of OC-2 in transfected cells stimulates MITF promoter activity. Mutations that prevent OC-2 binding decrease MITF promoter activity by 75%. Based on these results, we searched in 56 WS2 patients for mutations in the OC2 gene or in OC-2 binding sites in the MITF promoter, but none was found. These results show that OC-2 stimulates MITF expression and that OC2 is a candidate gene, but not a common cause, of WS. SN - 0006-291X UR - https://www.unboundmedicine.com/medline/citation/11478782/The_transcription_factor_onecut_2_controls_the_microphthalmia_associated_transcription_factor_gene_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0006-291X(01)95294-5 DB - PRIME DP - Unbound Medicine ER -