Publication: Genetics of pigment cells, lessons from the tyrosinase gene family
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Date
2006
Authors
Murisier, F. ; Beermann, Friedrich
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
In mammals, the melanin pigment is
produced in two cell types of distinct developmental
origins. The melanocytes of the skin originate form the
neural crest whereas the retinal pigment epithelium
(RPE) of the eye originates from the optic cup. The
genetic programs governing these two cell types are thus
quite different but have evolved to allow the expression
of pigment cell-specific genes such as the three members
of the tyrosinase-related family. Tyrosinase, Tyrp1 and
Dct promoters contain a motif termed E-box which is
bound by the transcription factor Mitf. These E-boxes
are also found in the promoters of the corresponding fish
genes, thus highlighting the pivotal role of Mitf in
pigment cell-specific gene regulation. Mitf, which
displays cell type-specific isoforms, transactivates the
promoters of the tyrosinase gene family in both pigment
cell lineages. However, specific DNA motifs have been
found in these promoters, and they correspond to
binding sites for RPE-specific factors such as Otx2 or
for melanocyte-specific factors such as Sox10 or Pax3.
The regulation of pigment cell-specific expression is
also controlled by genetic elements located outside of
the promoter, such as the tyrosinase distal regulatory
element located at -15 kb which acts as a melanocytespecific
enhancer but also protects from spreading of
condensed chromatin. Thus, by using the tyrosinase gene
family as a model, it is possible to define the
transcription factor networks that govern pigment
production in either melanocytes or RPE.
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