LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein
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DOI：
10.1016/j.ygeno.2003.08.013
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发表时间：
2004-02-01
期刊：
影响因子：
4.4
通讯作者：
Endele, SU
中科院分区：
文献类型：
--
作者：
Schlickum, S;Moghekar, A;Endele, SU
亮氨酸拉链，EF-手含跨膜蛋白1（LETM 1）最近已被克隆，试图确定基因删除沃尔夫赫什霍恩综合征（WHS），一个微缺失综合征的特点是严重的生长和智力低下，肌张力减退，癫痫发作，和典型的面部畸形的特点。LETM 1在几乎所有具有完整表型的患者中缺失，并且最近被认为是WHS患者癫痫发作的优秀候选基因。我们已经表明，LETM 1是进化保守的整个真核生物界，并表现出同源性MDM 38，一个假定的酵母蛋白参与线粒体形态。使用LETM 1-EGFP融合构建体和抗大鼠LetM 1多克隆抗体，我们已经证明LETM 1位于线粒体中。本研究提供了LETM 1可能功能的信息，并表明WHS的至少一些（神经肌肉）特征可能是由线粒体功能障碍引起的。(C)2003年爱思唯尔公司All rights reserved.
The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features. LETM1 is deleted in almost all patients with the full phenotype and has recently been suggested as an excellent candidate gene for the seizures in WHS patients. We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yeast protein involved in mitochondrial morphology. Using LETM1-EGFP fusion constructs and an anti-rat LetM1 polyclonal antibody we have demonstrated that LETM1 is located in the mitochondria. The present study presents information about a possible function for LETM1 and suggests that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction. (C) 2003 Elsevier Inc. All rights reserved.