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Enrico M. Surace, Barbara Angeletti, Andrea Ballabio, Valeria Marigo; Expression Pattern of the Ocular Albinism Type 1 (Oa1) Gene in the Murine Retinal Pigment Epithelium. Invest. Ophthalmol. Vis. Sci. 2000;41(13):4333-4337.
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purpose. Mutations in the OA1 gene cause ocular albinism
type 1 (OA1), an X-linked form of albinism affecting only the eye, with
skin pigmentation appearing normal. To better understand the
pathogenesis of this disease the time of onset and the pattern of
expression of the mouse homolog of the OA1 gene were
monitored during eye development. The localization of Oa1 mRNA was studied and compared with the expression of
other genes involved in melanosomal biogenesis.
methods. The Oa1 expression pattern during eye development and
after birth was analyzed by reverse transcription–polymerase chain
reaction (RT-PCR) and in situ hybridization. Localization of Oa1 mRNA was compared with Tyrosinase (Tyr), pink-eyed dilution (p), and Pax2 expression patterns.
results. RT-PCR revealed that Oa1 expression began at embryonic
day (E)10.5 and was maintained until adulthood. By in situ
hybridization analysis Oa1 transcripts were detected in
the retinal pigment epithelium (RPE) beginning at E10.5 in the dorsal
part of the eyecup and in the same area where transcripts of other
genes involved in pigmentation are found. Of note, the expression
pattern of these genes was complementary to Pax2 expression, which was restricted to the ventral side of the optic cup.
At later stages, expression of Oa1, Tyr,
and p expanded to the entire RPE and ciliary body.
conclusions. Oa1 expression can be detected at early stages of RPE
development, together with other genes involved in pigmentation
defects. Oa1 is likely to play an important function in
melanosomal biogenesis in the RPE beginning during the earliest steps
of melanosome formation.
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