TY - JOUR
T1 - Genotype determination of the OPN1LW/OPN1MW genes
T2 - novel disease-causing mechanisms in Japanese patients with blue cone monochromacy
AU - Katagiri, Satoshi
AU - Iwasa, Maki
AU - Hayashi, Takaaki
AU - Hosono, Katsuhiro
AU - Yamashita, Takahiro
AU - Kuniyoshi, Kazuki
AU - Ueno, Shinji
AU - Kondo, Mineo
AU - Ueyama, Hisao
AU - Ogita, Hisakazu
AU - Shichida, Yoshinori
AU - Inagaki, Hidehito
AU - Kurahashi, Hiroki
AU - Kondo, Hiroyuki
AU - Ohji, Masahito
AU - Hotta, Yoshihiro
AU - Nakano, Tadashi
N1 - Funding Information:
We thank the patients for their participation in this study. We also thank Prof. R. S. Molday for the generous gift of a Rho1D4-producing hybridoma. This work was supported by grants from the Initiative on Rare and Undiagnosed Diseases for Adults (16ek0109151h0002 to Y.H) and Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (17K11447 to Y.H., 16K11284 to K.H., 25462711 to H.U., 17K11441 to H. Kondo, 25462738 to T.H., and 17K11434 to T.H.).
Publisher Copyright:
© 2018, The Author(s).
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s41598-018-29891-9
DO - 10.1038/s41598-018-29891-9
M3 - Article
C2 - 30065301
AN - SCOPUS:85050813431
SN - 2045-2322
VL - 8
JO - Scientific Reports
JF - Scientific Reports
IS - 1
M1 - 11507
ER -