Rescue from Oculocutaneous Albinism Type 4 Using Medaka Slc45a2 CDNA Driven by Its Own Promoter

Overview

Journal Genetics

Publisher Oxford University Press

Specialty Genetics

Date 2008 Feb 5

PMID 18245373

Citations 8

Authors

Shoji Fukamachi

Masato Kinoshita

Taro Tsujimura

Atsuko Shimada

Shoji Oda

Akihiro Shima

Axel Meyer

Shoji Kawamura

Hiroshi Mitani

Affiliations

Soon will be listed here.

Abstract

Patients and vertebrate mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene-phenotype relationship. There is a unique OCA4 mutant in medaka (b) that exhibits albinism only in the skin, but the mechanism underlying this phenotype is also unknown. In this study, we rescued medaka OCA4 phenotypes, in both the eyes and the skin, by micro-injection of an slc45a2-containing genomic fragment or slc45a2 cDNA driven by its own 0.9-kb promoter. We also identified a spontaneous nucleotide change of 339 bp in the promoter as the b mutation. There are multiple transcription start sites in medaka slc45a2, as in its human ortholog, and only the shortest and eye-specific mRNA is transcribed with the b mutation. Interestingly, we further revealed a conserved pyrimidine (Py)-rich sequence of approximately 10 bp in the promoter by medaka-pufferfish comparative genomics and verified that it plays an indispensable role for expression of slc45a2 in the skin. Further studies of the 0.9-kb promoter identified in this study should provide insights into the cis/trans-regulatory mechanisms underlying the ocular and cutaneous expression of slc45a2.

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