A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
复制标题
先天性静止性夜盲症大鼠模型中 Cacna1f 自然发生的突变
作者：
An, Jing;Wang, Lifeng;Zhou, Jie;Li, Li;Liu, Xinping;Zhang, Zuoming;Gu, Yonghao;Ding, Zhenqiang;Yan, Guolin;Guo, Qun;Liu, Na;Yao, Libo
目的鉴定先前描述的x连锁先天性静止性夜盲症（CSNB）大鼠模型的基因突变。方法采用快速扩增cDNA末端法（RACE）从视网膜中分离大鼠Nyx和Cacna1f同源基因，检测其突变情况。视网膜电图用于识别患病动物。结果大鼠Nyx cDNA全长1971个核苷酸，编码476个氨基酸的蛋白（GenBank: DQ393414）。大鼠Cacna1f cDNA跨越6076个核苷酸，编码1980个氨基酸的蛋白质（GenBank: DQ393415）。在感染大鼠中发现c.2941C >t （p.R981Stop）突变。免疫化学研究显示，在受影响的视网膜中，杆状双极细胞和水平细胞的标记减少。大鼠暗位电图b波和振荡电位缺失，光位电图b波清晰但明显减弱。结论在CSNB大鼠模型中发现的Cacna1f突变导致蛋白产物缩短了999个氨基酸，表明这是人类x连锁CSNB （CSNB2）不完全亚型的模型。这种大鼠模型将有助于确定这种人类疾病的病理生理特性。
Purpose To identify the gene mutation responsible for a previously described rat model of X-linked congenital stationary night blindness (CSNB). Methods Rat orthologous genes for Nyx and Cacna1f were isolated from retina through rapid amplification the cDNA ends (RACE) and examined for mutations. Electroretinograms were used to identify affected animals. Results The rat Nyx cDNA spans 1,971 nucleotides and encodes a protein of 476 amino acids (GenBank: DQ393414). The rat Cacna1f cDNA spans 6,076 nucleotides and encodes a protein of 1,980 amino acids (GenBank: DQ393415). A c.2941C>T (p.R981Stop) mutation in Cacna1f was found in affected rats. Immunochemistry study showed labeling for rod bipolar and horizontal cells were reduced in affect retinas. For affected rats, b-wave and oscillatory potentials of scotopic ERG were absent, and b-wave of photopic ERG was clear but obviously reduced. Conclusions The Cacna1f mutation identified in the rat model of CSNB was predicted to lead to a protein product that is shortened by 999 amino acids, indicating that this is a model for the incomplete subtype of human X-linked CSNB (CSNB2). This rat model will be useful for defining the pathophysiological properties of this human disorder.
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影响因子：
1.2
作者：
H. M. Hittner;R. Borda;J. Justice
通讯作者：
H. M. Hittner;R. Borda;J. Justice
影响因子：
4
作者：
Morgans, CW
通讯作者：
Morgans, CW
影响因子：
4.4
作者：
Yonghao Gu;Zuoming Zhang;Tan Long;Li Li-Li;Bao-ke Hou;Qun Guo
通讯作者：
Yonghao Gu;Zuoming Zhang;Tan Long;Li Li-Li;Bao-ke Hou;Qun Guo
影响因子：
4.4
作者：
C. Zeitz;M. V. van Genderen;J. Neidhardt;U. Luhmann;F. Hoeben;U. Forster;K. Wycisk;G. Mátyás;C. Hoyng;F. Riemslag;F. Meire;F. Cremers;W. Berger
通讯作者：
C. Zeitz;M. V. van Genderen;J. Neidhardt;U. Luhmann;F. Hoeben;U. Forster;K. Wycisk;G. Mátyás;C. Hoyng;F. Riemslag;F. Meire;F. Cremers;W. Berger
DOI：
--
发表时间：
1983
期刊：
Transactions of the ophthalmological societies of the United Kingdom
影响因子：
--
作者：
M. Jay
通讯作者：
M. Jay