A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1
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DOI：
10.1016/s0006-291x(03)01555-9
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发表时间：
2003-09-12
影响因子：
3.1
通讯作者：
Shimizu, N
中科院分区：
文献类型：
--
作者：
Shimizu, A;Asakawa, S;Shimizu, N
我们在人类染色体8q23.3-q24.1上发现了一个编码具有CUB和sushi多个结构域的跨膜蛋白的新的巨大基因，其中良性成人家族性肌阵挛癫痫1型（BAFME 1/FAME，OMIM：601068）已被定位。这个巨大的基因由73个外显子组成，在基因组DNA区域上跨越超过1.2 Mb。该基因与两个基因（8 p23上的CSMD 1基因和1 p34上的CSMD 2基因）在氨基酸序列水平上具有显著的同源性，因此我们将其命名为CSMD 3。CSMD 3基因主要在成人和胎儿脑中表达。我们对7例BAFME 1/FAME患者的CSMD 3基因进行了突变分析，但在CSMD 3基因的编码序列中未发现突变。比较基因组分析显示，在小鼠和河豚基因组中的CSMD基因保守的家庭。CSMD基因家族的可能功能进行了讨论。(C)2003年爱思唯尔公司All rights reserved.
We identified a novel giant gene encoding a transmembrane protein with CUB and sushi multiple domains on the human chromosome 8q23.3-q24.1 in which benign adult familial myoclonic epilepsy type 1 (BAFME1/FAME, OMIM:601068) has been mapped. This giant gene consists of 73 exons and spans over 1.2 Mb on the genomic DNA region. It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at reduced amino acid sequence level and hence we designated as CSMD3. The CSMD3 gene was expressed mainly in adult and fetal brains. We performed mutation analysis on the CSMD3 gene for seven patients with BAFME1/FAME, but no mutation was found in the coding sequence of the CSMD3 gene. Comparative genomic analysis revealed a conserved family of CSMD genes in the mouse and fugu genomes. Possible functions of the CSMD gene family are discussed. (C) 2003 Elsevier Inc. All rights reserved.