Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation
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DOI：
10.1086/422507
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发表时间：
2004-08-01
影响因子：
9.8
通讯作者：
Ropers, HH
中科院分区：
文献类型：
--
作者：
Freude, K;Hoffmann, K;Ropers, HH
非综合征性X连锁精神发育迟滞（NSXLMR）是一种非常异质性的疾病，大多数潜在的基因缺陷仍然是未知的。最近，我们发现这些基因中有30%聚集在近端Xp上，这促使我们在该区域的脑表达基因中进行系统的突变筛查。在这里，我们报告了一种新的NSXLMR基因，FTSJ 1，它在三个不相关的家庭中含有突变-一个剪接缺陷，一个无义突变，一个缺失一个核苷酸。在两个家庭中，随后的表达研究表明，完全没有或显着减少突变FTSJ 1转录。FTSJ 1蛋白是大肠杆菌RNA甲基转移酶FtsJ/RrmJ的同源物，可能在翻译调控中发挥作用。进一步的研究旨在阐明人FTSJ 1的功能及其在脑发育中的作用。
Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that similar to 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families - one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.