Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

Satoshi Katagiri, Maki Iwasa, Takaaki Hayashi, Katsuhiro Hosono, Takahiro Yamashita, Kazuki Kuniyoshi, Shinji Ueno, Mineo Kondo, Hisao Ueyama, Hisakazu Ogita, Yoshinori Shichida, Hidehito Inagaki, Hiroki Kurahashi, Hiroyuki Kondo, Masahito Ohji, Yoshihiro Hotta, Tadashi Nakano

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Abstract

Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM. In Case 1, only one gene was present. Abnormalities were found in the promoter, which had a mixed unique profile of first and downstream gene promoters and a −71A > C substitution. As the promoter was active in the reporter assay, the cause of BCM remains unclear. In Case 2, the same novel mutation, M273K, was present in exon 5 of both genes in a two-gene array. The mutant pigments showed no absorbance at any of the wavelengths tested, suggesting that the mutation causes pigment dysfunction. Case 3 had a large deletion including the locus control region and entire first gene. Case 4 also had a large deletion involving exons 2–6 of the first gene. As an intact LCR was present upstream and one apparently normal downstream gene was present, BCM in Case 4 was not ascribed solely to the deletion. The deletions in Cases 3 and 4 were considered to have been caused by non-homologous recombination.

Original languageEnglish
Article number11507
JournalScientific reports
Volume8
Issue number1
DOIs
Publication statusPublished - 01-12-2018

All Science Journal Classification (ASJC) codes

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    Katagiri, S., Iwasa, M., Hayashi, T., Hosono, K., Yamashita, T., Kuniyoshi, K., Ueno, S., Kondo, M., Ueyama, H., Ogita, H., Shichida, Y., Inagaki, H., Kurahashi, H., Kondo, H., Ohji, M., Hotta, Y., & Nakano, T. (2018). Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. Scientific reports, 8(1), [11507]. https://doi.org/10.1038/s41598-018-29891-9