Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
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OPN1LW/OPN1MW 基因的基因型测定：日本蓝锥单色性患者的新致病机制。
DOI：
10.1038/s41598-018-29891-9
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发表时间：
2018-07-31
影响因子：
4.6
通讯作者：
Nakano T
中科院分区：
文献类型：
--
作者：
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
蓝锥单色性（Blue cone monochromacy，简称OPN）的特征是X染色体上OPN 1 LW（第一个）和OPN 1 MW（下游）基因的功能丧失。本研究的目的是调查在OPN 1 LW/OPN 1 MW阵列的第一个和下游基因在4个无关的日本男性与阿尔茨海默病。在病例1中，只有一个基因存在。在启动子中发现了缺失，其具有第一和下游基因启动子的混合独特特征和− 71 A> C取代。由于该启动子在报告基因测定中是活性的，因此引起突变的原因尚不清楚。在病例2中，相同的新突变M273 K存在于双基因阵列中两个基因的外显子5。突变体色素在任何测试的波长下都没有显示出吸光度，这表明突变导致色素功能障碍。病例3有一个大的缺失，包括基因座控制区和整个第一基因。病例4也有一个大的缺失，涉及第一个基因的外显子2-6。由于上游存在完整的LCR，下游存在一个明显正常的基因，因此病例4中的缺失不能完全归因于缺失。病例3和4中的缺失被认为是由非同源重组引起的。
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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影响因子：
3.5
作者：
Jagla, WM;Jägle, H;Deeb, SS
通讯作者：
Deeb, SS
影响因子：
1.8
作者：
Ueyama, H;Kuwayama, S;Yamade, S
通讯作者：
Yamade, S
DOI：
10.1073/pnas.84.24.8874
发表时间：
1987-12-01
影响因子：
11.1
作者：
OPRIAN, DD;MOLDAY, RS;KHORANA, HG
通讯作者：
KHORANA, HG
影响因子：
3.5
作者：
Ueyama, Hisao;Tanabe, Shoko;Ohkubo, Iwao
通讯作者：
Ohkubo, Iwao
影响因子：
56.9
作者：
VOLLRATH, D;NATHANS, J;DAVIS, RW
通讯作者：
DAVIS, RW