Melanogenesis is the process that regulates skin and eye pigmentation. Albinism, a genetic disease causing pigmentation defects and visual disorders, is caused by mutations in genes controlling either melanin synthesis or melanosome biogenesis. Here we show that a common transcriptional control regulates both of these processes. We performed an analysis of the regulatory region of Oa1, the murine homolog of the gene that is mutated in the X-linked form of ocular albinism, as Oa1's function affects melanosome biogenesis. We demonstrated that Oa1 is a target of Mitf and that this regulatory mechanism is conserved in the human gene. Tissue-specific control of Oa1 transcription lies within a region of 617 bp that contains the E-box bound by Mitf. Finally, we took advantage of a virus-based system to assess tissue specificity in vivo. To this end, a small fragment of the Oa1 promoter was cloned in front of a reporter gene in an adeno-associated virus. After we injected this virus into the subretinal space, we observed reporter gene expression specifically in the retinal pigment epithelium, confirming the cell-specific expression of the Oa1 promoter in the eye. The results obtained with this viral system are a preamble to the development of new gene delivery approaches for the treatment of retinal pigment epithelium defects.
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis / Vetrini, F.; Auricchio, A.; Du, J.; Angeletti, B.; Fisher, D. E.; Ballabio, A.; Marigo, Valeria. - In: MOLECULAR AND CELLULAR BIOLOGY. - ISSN 0270-7306. - STAMPA. - 24(2004), pp. 6550-6559.
Data di pubblicazione: | 2004 |
Titolo: | The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. |
Autore/i: | Vetrini, F.; Auricchio, A.; Du, J.; Angeletti, B.; Fisher, D. E.; Ballabio, A.; Marigo, Valeria |
Autore/i UNIMORE: | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1128/MCB.24.15.6550-6559.2004 |
Rivista: | |
Volume: | 24 |
Pagina iniziale: | 6550 |
Pagina finale: | 6559 |
Codice identificativo ISI: | WOS:000222764800002 |
Codice identificativo Scopus: | 2-s2.0-3242686879 |
Codice identificativo Pubmed: | 15254223 |
Citazione: | The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis / Vetrini, F.; Auricchio, A.; Du, J.; Angeletti, B.; Fisher, D. E.; Ballabio, A.; Marigo, Valeria. - In: MOLECULAR AND CELLULAR BIOLOGY. - ISSN 0270-7306. - STAMPA. - 24(2004), pp. 6550-6559. |
Tipologia | Articolo su rivista |
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