The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy
The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy
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DOI：
10.1006/geno.1998.5404
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发表时间：
1998-07-15
期刊：
影响因子：
4.4
通讯作者：
Bryant, PJ
中科院分区：
文献类型：
--
作者：
Dimitratos, SD;Stathakis, DG;Bryant, PJ
结果：我们将CASK定位到Xp 11。4使用两个不同的RH绘图面板。基于该区域内的STS标记的遗传图谱，CASK位于距离X染色体连锁群顶部约66 cM处。两种与视觉障碍相关的神经系统疾病在CASK附近分布（图1）。X连锁视锥-视杆细胞营养不良，命名为COD 1基因座，是一种进行性的先天性视锥细胞光感受器疾病。由于COD 1位于STS标记物DXS 556和DXS 993之间（5），CASK被排除为该疾病的候选者。第二种疾病，X连锁视神经萎缩（XLOPT），映射到由标记DXS 993和DXS 991定义的大约18-cR 3000区域。然而，连锁分析表明，这种疾病与MAOB密切相关（1）。XLOPT可导致视力下降和严重的双侧视神经萎缩，其特征为起病早，进展缓慢（1）。我们的定位数据将CASK定位在XLOPT区域内，靠近MAOB，并将CASK鉴定为该疾病的候选基因（图1）。来自模式生物的数据表明，人CASK是XLOPT的有吸引力的候选者。大鼠CASK在大脑中高度表达，似乎介导突触
Results: We mapped CASK to Xp11. 4 using two different RH mapping panels. Based on genetically mapped STS markers within this region, CASK is located approximately 66 cM from the top of the chromosome X linkage group. Two neurological diseases associated with visual impairment map in the vicinity of CASK (Fig. 1). X-linked cone–rod dystrophy, designated the COD1 locus, is a progressive congenital disease of the cone photoreceptors. Since COD1 lies between STS markers DXS556 and DXS993 (5), CASK is excluded as a candidate for this disease. The second disorder, X-linked optic atrophy (XLOPT), maps to an approximately 18-cR3000 region defined by markers DXS993 and DXS991. However, linkage analysis indicates that this disease is tightly associated with MAOB (1). XLOPT causes decreased visual acuity and severe bilateral optic atrophy and is characterized by an early onset with a slow progression (1). Our mapping data place CASK within the XLOPT region, near MAOB, and identify CASK as a candidate gene for this disease (Fig. 1). Data from model organisms suggest that human CASK is an attractive candidate for XLOPT. Rat CASK, which is highly expressed in the brain, appears to mediate synaptic