文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

组蛋白去甲基酶 PHF8 与 X 连锁智力迟钝中的转录因子 ZNF711 之间的功能联系。

A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.

机构信息

Biotech Research and Innovation Centre (BRIC), Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark.

出版信息

Mol Cell. 2010 Apr 23;38(2):165-78. doi: 10.1016/j.molcel.2010.03.002. Epub 2010 Mar 25.

DOI:10.1016/j.molcel.2010.03.002
PMID:20346720
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2989439/
Abstract

X-linked mental retardation (XLMR) is an inherited disorder that mostly affects males and is caused by mutations in genes located on the X chromosome. Here, we show that the XLMR protein PHF8 and a C. elegans homolog F29B9.2 catalyze demethylation of di- and monomethylated lysine 9 of histone H3 (H3K9me2/me1). The PHD domain of PHF8 binds to H3K4me3 and colocalizes with H3K4me3 at transcription initiation sites. Furthermore, PHF8 interacts with another XMLR protein, ZNF711, which binds to a subset of PHF8 target genes, including the XLMR gene JARID1C. Of interest, the C. elegans PHF8 homolog is highly expressed in neurons, and mutant animals show impaired locomotion. Taken together, our results functionally link the XLMR gene PHF8 to two other XLMR genes, ZNF711 and JARID1C, indicating that MR genes may be functionally linked in pathways, causing the complex phenotypes observed in patients developing MR.

摘要

X 连锁智力障碍 (XLMR) 是一种遗传性疾病，主要影响男性，由位于 X 染色体上的基因突变引起。在这里，我们表明 XLMR 蛋白 PHF8 和秀丽隐杆线虫的同源物 F29B9.2 催化组蛋白 H3 的二甲基和单甲基赖氨酸 9 的去甲基化 (H3K9me2/me1)。PHF8 的 PHD 结构域结合 H3K4me3，并与转录起始位点的 H3K4me3 共定位。此外，PHF8 与另一个 XMLR 蛋白 ZNF711 相互作用，ZNF711 结合到 PHF8 的一组靶基因上，包括 XLMR 基因 JARID1C。有趣的是，秀丽隐杆线虫 PHF8 同源物在神经元中高度表达，突变动物表现出运动障碍。总之，我们的研究结果将 XLMR 基因 PHF8 与另外两个 XLMR 基因 ZNF711 和 JARID1C 联系起来，表明 MR 基因可能在通路中具有功能联系，导致患者出现复杂的智力障碍表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/e0e5b0533474/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/55e11b448ef9/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/fbb993538771/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/36b8957826d6/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/4b5332e07d48/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/0bce416da164/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/00ab74a98539/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/e0e5b0533474/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/55e11b448ef9/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/fbb993538771/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/36b8957826d6/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/4b5332e07d48/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/0bce416da164/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/00ab74a98539/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/834c/2989439/e0e5b0533474/gr6.jpg

相似文献

[1]
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.

Mol Cell. 2010-3-25

[2]
The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.

Cell Res. 2010-6-15

[3]
Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

Nature. 2010-7-11

[4]
PHF8 targets histone methylation and RNA polymerase II to activate transcription.

Mol Cell Biol. 2010-4-26

[5]
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

Cell. 2007-3-23

[6]
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

J Med Genet. 2005-10

[7]
PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.

Nat Struct Mol Biol. 2010-3-7

[8]
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

Hum Mol Genet. 2009-10-19

[9]
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

J Med Genet. 2008-12

[10]
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.

Genes (Basel). 2021-7-18

引用本文的文献

[1]
Combined single-cell profiling of chromatin-transcriptome and splicing across brain cell types, regions and disease state.

Nat Biotechnol. 2025-7-22

[2]
Nuclear deformability depends on H3K9-methylated heterochromatin anchorage to the nuclear periphery in Caenorhabditis elegans.

Genetics. 2025-7-9

[3]
X-Linked Cancer-Associated Polypeptide (XCP) from Cooperates with PHF8 to Regulate Gene Expression and Cellular Pathways in Breast Cancer.

bioRxiv. 2025-3-25

[4]
Cardiac differentiation roadmap for analysis of plasticity and balanced lineage commitment.

Stem Cell Reports. 2025-3-11

[5]
Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.

Neurol Int. 2025-1-20

[6]
PHF8/KDM7B: A Versatile Histone Demethylase and Epigenetic Modifier in Nervous System Disease and Cancers.

Epigenomes. 2024-9-15

[7]
Formerly degenerate seventh zinc finger domain from transcription factor ZNF711 rehabilitated by experimental NMR structure.

Protein Sci. 2024-9

[8]
Anchorage of H3K9-methylated heterochromatin to the nuclear periphery helps mediate P-cell nuclear migration though constricted spaces in .

bioRxiv. 2024-5-23

[9]
Insights into the Dissociation Process and Binding Pattern of the BRCT7/8-PHF8 Complex.

ACS Omega. 2024-5-2

[10]
Reduction of ZFX levels decreases histone H4 acetylation and increases Pol2 pausing at target promoters.

Nucleic Acids Res. 2024-7-8

本文引用的文献

[1]
Structural insight into histone recognition by the ING PHD fingers.

Curr Drug Targets. 2009-5

[2]
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet. 2009-5

[3]
Unbiased proteomic screen for binding proteins to modified lysines on histone H3.

Proteomics. 2009-5

[4]
Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease.

Genes Dev. 2008-5-1

[5]
Mechanisms involved in the regulation of histone lysine demethylases.

Curr Opin Cell Biol. 2008-6

[6]
Genes, plasticity and mental retardation.

Behav Brain Res. 2008-9-1

[7]
Transcription of genes encoding synaptic vesicle proteins in human neural stem cells: chromatin accessibility, histone methylation pattern, and the essential role of rest.

J Biol Chem. 2008-4-4

[8]
XLMR genes: update 2007.

Eur J Hum Genet. 2008-4

[9]
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

Clin Genet. 2007-8

[10]
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

Clin Genet. 2007-7

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索