Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1
Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1
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DOI：
10.1016/j.yexmp.2006.10.004
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发表时间：
2007-04-01
影响因子：
3.6
通讯作者：
Kaufman, David G.
中科院分区：
文献类型：
--
作者：
Brylawski, Bruna P.;Chastain, Paul D., II;Kaufman, David G.
双向DNA复制的起点定位于人类染色体Xq27.3中FMR 1基因的启动子，该基因与脆性X综合征有关。该起点邻近CpG岛，并与脆性X不稳定位点FRAXA处的三联体重复序列（CGG）的扩增位点重叠。如前所述，FRAXE位点中的FMR 2启动子区（距离染色体带Xq 28约600 kb）还包括复制起点[Chastain II，PD，Cohen，S.M.，Brylawski，B.P.，Cordeiro-Stone，M.，考夫曼，D.G.，2006.人FMR 2基因三核苷酸重复区的一个晚期DNA复制起点。Cell Cycle 5，869-872]。FMR 1转录检测包皮和男性胎儿肺成纤维细胞，而FMR 2转录没有。然而，发现FMR 1和FMR 2都在S期晚期复制（大约61 T进入正常人成纤维细胞的S期）。相对于CGG重复的复制起点的位置，也许这些基因的后期复制，可能是在FRAXA和FRAXE位点的三重重复扩增易感性的重要因素。(C)2006年爱思唯尔公司All rights reserved.
An origin of bidirectional DNA replication was mapped to the promoter of the FMR1 gene in human chromosome Xq27.3, which has been linked to the fragile X syndrome. This origin is adjacent to a CpG island and overlaps the site of expansion of the triplet repeat (CGG) at the fragile X instability site, FRAXA. The promoter region of FMR2 in the FRAXE site (approximately 600 kb away, in chromosome band Xq28) also includes an origin of replication, as previously described [Chastain II, P.D., Cohen, S.M., Brylawski, B.P., Cordeiro-Stone, M., Kaufman, D.G., 2006. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. Cell Cycle 5, 869-872]. FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 It into the S phase of normal human fibroblasts). The position of the origin of replication relative to the CGG repeat, and perhaps the late replication of these genes, might be important factors in the susceptibility to triplet repeat amplification at the FRAXA and FRAXE sites. (C) 2006 Elsevier Inc. All rights reserved.