Differential gene expression of TPLPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)
Differential gene expression of TPLPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)
复制标题
DOI：
10.1534/genetics.108.088807
复制
发表时间：
2008-08-01
期刊：
影响因子：
3.3
通讯作者：
Grahn, Bruce
中科院分区：
文献类型：
--
作者：
Bellone, Rebecca R.;Brooks, Samantha A.;Grahn, Bruce
马的阿帕卢马皮毛斑点模式是由单个不完整显性基因（LP）引起的。 LP 纯合性 (LP/LP) 与阿帕卢萨马的先天性静止性夜盲症 (CSNB) 直接相关。 LP 映射到 EAl 上的 6-cM 区域。我们通过定量实时 RT-PCR 研究了位于 LP 候选区域的两个功能候选基因（TRP1 和 OCA2）以及其他三个连锁基因座（TJP1、MTMR10 和 OTUD7A）的相对表达。 TJP1、MTMR10、OTUD7A 和 OCA2 的表达水平没有发现大的差异。然而，纯合阿帕卢萨马视网膜中的 TRPM1（瞬时受体电位阳离子通道，M 亚科，成员 1）表达水平是非阿帕卢萨马的 0.05%（R = 0.0005）。这构成了受 CSNB 影响的 (LP/LP) 马视网膜中 TRPM1 基因表达的 > 1800 倍变化 (FC) 减少 (FC = -1870.637, P = 0.001)。 TRPM1 在 LP/LP 色素皮肤（R = 0.005，Fc = -193.963，P = 0.001）和 LP/LP 无色素皮肤（R = 0.003，FC = -288.686，P = 0.001）中也下调，并且在 LP/lp 无色素皮肤（R = 0.027，FC = -36.583，P = 0.001）。TRP 蛋白被认为在控制细胞内 Ca2+ 浓度方面发挥作用。眼睛和皮肤中 TRPM1 表达的减少可能会改变双极细胞信号传导以及黑素细胞功能，从而导致马的 CSNB 和 LP。
The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECAl. We investigated the relative expression of two functional candidate genes located in the LP candidate region (TRP1 and OCA2), as well as three other linked loci(TJP1, MTMR10 and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a > 1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, Fc = -193.963, P = 0.001 and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was down regulated to a lesser extent ill LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signalling as well as melanocyte function, thus causing both CSNB and LP in horses.