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本文引用的文献

1
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.一个黎巴嫩免疫缺陷、着丝粒不稳定和面部异常综合征 2 型家系中 ZBTB24 的新型缺失。
Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5.
2
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.ZBTB24 基因突变与免疫缺陷、着丝粒不稳定和面部异常综合征 2 型有关。
Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19.
3
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.异染色质基因在免疫缺陷、着丝粒不稳定、面部异常（ICF）综合征中发生表观遗传学改变并逃避沉默。
PLoS One. 2011 Apr 29;6(4):e19464. doi: 10.1371/journal.pone.0019464.
4
Developmental control of late replication and S phase length.晚期复制和 S 期长度的发育控制。
Curr Biol. 2010 Dec 7;20(23):2067-77. doi: 10.1016/j.cub.2010.10.021. Epub 2010 Nov 11.
5
Targets and dynamics of promoter DNA methylation during early mouse development.早期小鼠发育过程中启动子 DNA 甲基化的靶标和动态。
Nat Genet. 2010 Dec;42(12):1093-100. doi: 10.1038/ng.708. Epub 2010 Nov 7.
6
Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues.E2F6 转录抑制因子募集 Dnmt3b 介导小鼠体细胞生殖基因沉默
Proc Natl Acad Sci U S A. 2010 May 18;107(20):9281-6. doi: 10.1073/pnas.1000473107. Epub 2010 May 3.
7
Programming DNA replication origins and chromosome organization.编程 DNA 复制起点和染色体组织。
Chromosome Res. 2010 Jan;18(1):137-45. doi: 10.1007/s10577-009-9105-3.
8
Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.由表观基因组失调导致的遗传性疾病的临床与分子概述。
Eur J Med Genet. 2009 Nov-Dec;52(6):363-72. doi: 10.1016/j.ejmg.2009.07.004. Epub 2009 Jul 24.
9
Establishing the program of origin firing during S phase in fission Yeast.在裂殖酵母的S期建立起始点激发程序。
Cell. 2009 Mar 6;136(5):852-64. doi: 10.1016/j.cell.2009.01.017.
10
Replication timing as an epigenetic mark.复制时间作为一种表观遗传标记。
Epigenetics. 2009 Feb 16;4(2):93-7. doi: 10.4161/epi.4.2.7772. Epub 2009 Feb 1.

免疫缺陷着丝粒不稳定面部异常（ICF）细胞携带 DNMT3B 突变，其 DNA 复制发生改变。

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

机构信息

INSERM U827, av. du Doyen Gaston Giraud, Montpellier, France.

出版信息

Eur J Hum Genet. 2012 Oct;20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29.

DOI:10.1038/ejhg.2012.41
PMID:22378288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3449075/
Abstract

ICF syndrome is a rare autosomal recessive disorder that is characterized by Immunodeficiency, Centromeric instability, and Facial anomalies. In all, 60% of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In ICF cells, constitutive heterochromatin is hypomethylated and decondensed, metaphase chromosomes undergo rearrangements (mainly involving juxtacentromeric regions), and more than 700 genes are aberrantly expressed. This work shows that DNA replication is also altered in ICF cells: (i) heterochromatic genes replicate earlier in the S-phase; (ii) global replication fork speed is higher; and (iii) S-phase is shorter. These replication defects may result from chromatin changes that modify DNA accessibility to the replication machinery and/or from changes in the expression level of genes involved in DNA replication. This work highlights the interest of using ICF cells as a model to investigate how DNA methylation regulates DNA replication in humans.

摘要

ICF 综合征是一种罕见的常染色体隐性遗传病，其特征为免疫缺陷、着丝粒不稳定和面部异常。在所有 ICF 患者中，有 60%的患者存在 DNMT3B（DNA 甲基转移酶 3B）基因突变，该基因编码一种从头 DNA 甲基转移酶。在 ICF 细胞中，组成型异染色质去甲基化和去凝聚，中期染色体发生重排（主要涉及着丝粒附近区域），并且超过 700 个基因异常表达。这项工作表明，ICF 细胞中的 DNA 复制也发生了改变：（i）异染色质基因在 S 期更早复制；（ii）全局复制叉速度更高；和（iii）S 期更短。这些复制缺陷可能是由于改变了染色质结构，从而改变了 DNA 对复制机制的可及性，和/或改变了参与 DNA 复制的基因的表达水平。这项工作强调了使用 ICF 细胞作为模型来研究 DNA 甲基化如何调节人类 DNA 复制的重要性。