Single-nucleotide polymorphisms responsible for pseudo-albinism and hypermelanosis in Japanese flounder (Paralichthys olivaceus) and reveal two genes related to malpigmentation
Single-nucleotide polymorphisms responsible for pseudo-albinism and hypermelanosis in Japanese flounder (Paralichthys olivaceus) and reveal two genes related to malpigmentation
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单核苷酸多态性导致日本牙鲆（Paralichthys olivaceus）的假白化病和过度黑色素沉着症，并揭示了与色素沉着不良相关的两个基因
DOI：
10.1007/s10695-020-00916-3
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发表时间：
2021-01
影响因子：
2.9
通讯作者：
Bao B
中科院分区：
文献类型：
--
作者：
Zhang B;Peng K;Che J;Zhao N;Jia L;Zhao D;Huang Y;Liao Y;He X;Gong X;Bao B
牙鲆是一种冷水性底栖海洋鱼类。在发育的早期，对称的幼体通过变态转变为不对称的体型，以适应底栖生活。之后，鱼体的一侧附着在地面上，眼睛转向相对的一侧，称为眼侧。体色也显得不对称。眼侧皮肤呈深褐色，盲侧皮肤呈白色，无色素沉着。伪白化症和黑色素沉着症被认为是比目鱼不同的体色疾病。褐牙鲆的伪白化病和色素沉着症是由于色素分布异常或不均匀引起的，是遗传和环境因素相互作用的结果，而不是某一基因的单核苷酸突变。在这里，我们报告了三个单核苷酸多态性（SNP），它们分别与假性白化病和黑色素沉着症有关，它们位于黑色素生成相关途径中涉及的两个体色相关基因上。（P. V605 I）和c.2271 - 96 T>位于肌醇1，4，5-三磷酸受体2型样（ITPR 2）上的护理（基因ID：109624047），它们分别位于外显子16和非编码区，并且c. 2406 C>A H798 N定位于腺苷酸环化酶6型样（AC 6）基因的第13外显子ITPR 2和AC 6的表达，这两个基因都参与了与P.还使用qRT-PCR研究了橄榄菇的生长情况。在高黑色素鱼中，ITPR 2和AC 6 mRNA在盲侧高色素皮肤中的表达水平相对高于盲侧非色素皮肤和眼侧色素皮肤，而在假白化鱼中，ITPR 2和AC 6 mRNA在眼侧色素皮肤中的表达水平均显著高于盲侧非色素皮肤。结果表明，这两个基因在体色异常部位的表达与色素沉着呈正相关，提示这两个基因的异常表达对体色异常部位色素沉着的影响值得进一步研究。
Paralichthys olivaceusis the kind of cold-water benthic marine fish. In the early stages of development, the symmetrical juveniles transform into an asymmetrical body shape through metamorphosis for adapting benthic life. After that, one side of the fish body is attached to the ground, and the eyes turn to the opposite side which is called ocular side. The body color also appears asymmetry. The skin on the ocular side is dark brown, and the skin on the blind side is white without pigmentation. Pseudo-albinism and hypermelanosis have been considered distinct body color disorders in flatfish. Pseudo-albinism and hypermelanosis inParalichthys olivaceusare due to abnormal or uneven pigment distribution, due to the interaction of hereditary and environmental factors, rather than a single-nucleotide mutation of a specific gene. Here, we report three single-nucleotide polymorphisms (SNPs) responsible for both pseudo-albinism and hypermelanosis, which are located on two body color-related genes involved in melanogenesis-related pathways.c.2440C>A (P. V605I)andc.2271-96T>Care located on theInositol 1,4,5-trisphosphate receptor type 2-like(ITPR2) (Gene ID: 109624047), they are located in exon 16 and the non-coding region, respectively, andc.2406C>A (P.H798N)is located in exon 13 of theadenylate cyclase type 6-like(AC6) gene(Gene ID: 109630770).ITPR2andAC6expression, which both participate in the thyroid hormone synthesis pathway associated with pseudo-albinism and hypermelanosis inP. olivaceus, were also investigated using qRT-PCR. In hypermelanotic fish, there were relatively higher levels of expression inITPR2andAC6mRNA of hyper-pigmented skin of blind side than that of non-pigmented skin on the blind side and pigmented skin on the ocular side, while in pseudo-albino fish, expression level ofITPR2andAC6mRNA in pigmented skin of ocular side was significantly higher than that in non-pigmented skin both ocular and blind side. The results indicated that the expression of the two genes in abnormal parts of body color is positively correlated with pigmentation, suggesting that the influence of abnormal expression of two genes on the pigmentation in abnormal parts of body color deserves further study.
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影响因子：
3.7
作者：
Darias MJ;Andree KB;Boglino A;Rotllant J;Cerdá-Reverter JM;Estévez A;Gisbert E
通讯作者：
Gisbert E
DOI：
--
发表时间：
1997-06
期刊：
Proceedings. International Conference on Intelligent Systems for Molecular Biology
影响因子：
--
作者：
M. Peitsch
通讯作者：
M. Peitsch
影响因子：
4.5
作者：
O. Ottesen;H. Strand
通讯作者：
O. Ottesen;H. Strand
影响因子：
4.5
作者：
Takeshi Yamanome;M. Amano;A. Takahashi
通讯作者：
Takeshi Yamanome;M. Amano;A. Takahashi
DOI：
10.1016/s1532-0456(01)00187-9
发表时间：
2001-06
期刊：
Comparative biochemistry and physiology. Toxicology & pharmacology : CBP
影响因子：
--
作者：
Noriko Oshima;Naohiko Nakamaru;Sachiko Araki;Masazumi Sugimoto
通讯作者：
Noriko Oshima;Naohiko Nakamaru;Sachiko Araki;Masazumi Sugimoto