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低频常见脆性位点:与神经精神疾病有关联?

Low-frequency common fragile sites: link to neuropsychiatric disorders?

作者信息

Savelyeva Larissa, Sagulenko Evgeny, Schmitt Jens Guido, Schwab Manfred

机构信息

Division of Tumor Genetics, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany.

出版信息

Cancer Lett. 2006 Jan 28;232(1):58-69. doi: 10.1016/j.canlet.2005.08.033. Epub 2005 Nov 17.

Abstract

Common fragile sites are unstable chromosomal regions that predispose chromosomes to breakage and rearrangements. Recombinogenic DNA sequences encompassing these sites may contribute to both germinal and somatic genomic mutations, and the genomic instability at these regions might cause severe inherited disorders or predispose to cancer. In this review, we discuss the characterization of common fragile site FRA13A within the neurobeachin gene, which is involved in development and function of the central nervous system. We raise the possibility of an implication of common fragile sites in neuropsychiatric disorders and overview previous and recent reports concerning individual variability of expression of common fragile sites in human populations.

摘要

常见脆性位点是不稳定的染色体区域,易使染色体发生断裂和重排。包含这些位点的重组DNA序列可能导致生殖细胞和体细胞的基因组突变,这些区域的基因组不稳定性可能引发严重的遗传性疾病或增加患癌风险。在本综述中,我们讨论了神经beachin基因内常见脆性位点FRA13A的特征,该基因参与中枢神经系统的发育和功能。我们提出了常见脆性位点与神经精神疾病相关的可能性,并概述了以往和最近关于人类群体中常见脆性位点表达个体差异的报告。

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