Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis

被引：0

作者：

Rots, Dmitrijs ^{[1
]}

Yamada, Ayumi ^{[2
]}

Foroutan, Aidin ^{[3
,4
]}

McCon-Key, Haley ^{[4
]}

Kerkhof, Jennifer ^{[4
]}

Alders, Marielle ^{[5
]}

Maystadt, Isabelle ^{[6
]}

Holden, Simon ^{[7
]}

Balasubramanian, Meena ^{[8
,9
]}

Merla, Giuseppe ^{[10
]}

San-Ten, Gijs ^{[11
]}

Belonis, Alyce ^{[12
]}

Bouman, Arianne ^{[1
]}

Kummeling, Joost ^{[1
]}

Heijligers, Malou ^{[13
]}

Van Haelst, Mieke ^{[14
]}

Parker, Michael ^{[8
]}

Park, Soo-Mi ^{[7
]}

Metcalfe, Kay ^{[15
]}

Genevieve, David ^{[16
,17
]}

Chatron, Nicolas ^{[18
,19
]}

Putoux, Audrey ^{[20
,21
]}

Pasquier, Laurent ^{[22
]}

Dubourg, Christele ^{[23
,24
]}

Strobl-Wildemann, Gertrud

Plomp, Astrid ^{[5
]}

Vreeburg, Maaike ^{[13
]}

Baralle, Diana ^{[25
,26
]}

Foulds, Nicola ^{[25
,26
]}

Scurr, Ingrid ^{[27
]}

Cappuccio, Gerarda ^{[28
]}

Brunetti-Pierri, Nicola

Van Hagen, Annet ^{[14
]}

Bijlsma, Emilia K.

Firth, Helen ^{[7
]}

Forzano, Francesca ^{[29
]}

Kalsner, Louisa ^{[30
,31
,32
]}

Hol, Janna A. ^{[33
]}

Courage, Carolina ^{[34
]}

Vanhoutte, Els ^{[13
]}

Banka, Siddharth ^{[15
]}

Venselaar, Hanka ^{[35
]}

Kasri, N. Nadif ^{[1
]}

van Bokhoven, Hans ^{[1
]}

Brunner, Han ^{[1
]}

Vissers, Lisenka ^{[1
]}

Shinkai, Yoichi ^{[2
]}

Sadikovic, Bekim ^{[4
]}

Kleefstra, Tjitske ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[2] RIKEN CPR, Cellular Memory Lab, Wako, Saitama, Japan

[3] Western Univ, Dept Pathol & Lab Med, London, ON, Canada

[4] London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON, Canada

[5] Univ Amsterdam, Med Ctr, Dept Human Genet, Amsterdam, Netherlands

[6] Ctr Human Genet, Inst Pathol & Genet, Charleroi, Belgium

[7] Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England

[8] Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[9] Univ Sheffield, Acad Unit Child Hlth, Sheffield, S Yorkshire, England

[10] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

[11] Leiden Univ Med Ctr LUMC, Leiden, Netherlands

[12] Cincinnati Childrens Hosp, Div Human Genet, Med Ctr, Cincinnati, OH USA

[13] Maastricht Univ, Med Ctr, Maastricht, Netherlands

[14] Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

[15] Manchester Ctr Genom Med, Manchester, Lancs, England

[16] Montpellier Univ, INSERM U1183, Montpellier, France

[17] CHU Montpellier, Genet Clin, Dept Genet Med Malad Rares & Med Personnalisee, Ctr Reference Anomalies Dev SOOR,ERN ITHACA, Montpellier, France

[18] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[19] Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France

[20] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[21] Univ Claude Bernard Lyon 1, INSERM U1028, Ctr Rech Neurosci Lyon, Equipe GENDEV,CNRS UMR5292, Lyon, France

[22] CHU Rennes, Dept Med Genet, Hop Sud, Reference Ctr Rare Dis Intellectual Deficiencie, Rennes, France

[23] CHU Rennes, Serv Genet Mol & Genom, F-35033 Rennes, France

[24] Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France

[25] Univ Southampton, Southampton, Hants, England

[26] Univ Hosp Southampton, Fac Med, Southampton, Hants, England

[27] Univ Hosp Bristol, Dept Clin Genet, Bristol, Avon, England

[28] Telethon Inst Genet & Med, Pozzuoli, Italy

[29] Guys & St Thomas Natl Hlth Syst Fdn Trust, Dept Clin Genet, London, England

[30] Connecticut Childrens Med Ctr, Dept Neurol & Pediat, Farmington, CT USA

[31] Univ Connecticut, Sch Med, Dept Neurol, Farmington, CT USA

[32] Univ Connecticut, Sch Med, Dept Pediat, Farmington, CT USA

[33] Erasmus MC, Rotterdam, Netherlands

[34] Helsinki Univ Hosp, Dept Clin Genet, Helsinki, Finland

[35] Radboud Inst Mol Life Sci, Radboudumc Ctr Mol & Biomol Informat, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.031.C

引用

页码：456 / 457

页数：2

共 33 条

[21] Inhibition of EHMT1/2 rescues synaptic and cognitive functions for Alzheimer's disease
Zheng, Yan
Liu, Aiyi
Wang, Zi-Jun
Cao, Qing
Wang, Wei
Lin, Lin
Ma, Kaijie
Zhang, Freddy
Wei, Jing
Matas, Emmanuel
Cheng, Jia
Chen, Guo-Jun
Wang, Xiaomin
Yan, Zhen
BRAIN, 2019, 142 : 787 - 807
[22] A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding
Blackburn, Patrick R.
Tischer, Alexander
Zimmermann, Michael T.
Kemppainen, Jennifer L.
Sastry, Sujatha
Knight Johnson, Amy E.
Cousin, Margot A.
Boczek, Nicole J.
Oliver, Gavin
Misra, Vinod K.
Gavrilova, Ralitza H.
Lomberk, Gwen
Auton, Matthew
Urrutia, Raul
Klee, Eric W.
JOURNAL OF BIOLOGICAL CHEMISTRY, 2017, 292 (09) : 3866 - 3876
[23] A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation
Blackburn, Patrick R.
Williams, Monique
Cousin, Margot A.
Boczek, Nicole J.
Beek, Geoffrey J.
Lomberk, Gwen A.
Urrutia, Raul A.
Babovic-Vuksanovic, Dusica
Klee, Eric W.
MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (02): : 141 - 146
[24] CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
Vanessa S. Fear
Catherine A. Forbes
Denise Anderson
Sebastian Rauschert
Genevieve Syn
Nicole Shaw
Sarra Jamieson
Michelle Ward
Gareth Baynam
Timo Lassmann
Stem Cell Research & Therapy, 13
[25] Demethylation of EHMT1/GLP Protein Reprograms Its Transcriptional Activity and Promotes Prostate Cancer Progression
Besschetnova, Anna
Han, Wanting
Liu, Mingyu
Gao, Yanfei
Li, Muqing
Wang, Zifeng
Labaf, Maryam
Patalano, Susan
Venkataramani, Kavita
Muriph, Rachel E.
Macoska, Jill A.
Siegfried, Kellee R.
Evans, Jason
Balk, Steven P.
Gao, Shuai
Han, Dong
Cai, Changmeng
CANCER RESEARCH COMMUNICATIONS, 2023, 3 (08): : 1716 - 1730
[26] EHMT1 Protein Binds to Nuclear Factor-κB p50 and Represses Gene Expression
Ea, Chee-Kwee
Hao, ShengLi
Yeo, Kok Siong
Baltimore, David
JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (37) : 31207 - 31217
[27] Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance
Bock, Istvan
Nemeth, Krisztina
Pentelenyi, Klara
Balicza, Peter
Balazs, Anna
Molnar, Maria Judit
Roman, Viktor
Nagy, Jozsef
Levay, Gyorgy
Kobolak, Julianna
Dinnyes, Andras
GENE, 2016, 595 (02) : 131 - 141
[28] CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
Fear, Vanessa S.
Forbes, Catherine A.
Anderson, Denise
Rauschert, Sebastian
Syn, Genevieve
Shaw, Nicole
Jamieson, Sarra
Ward, Michelle
Baynam, Gareth
Lassmann, Timo
STEM CELL RESEARCH & THERAPY, 2022, 13 (01)
[29] Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance
Varga, Eszter
Nemes, Csilla
Tancos, Zsuzsanna
Bock, Istvan
Berzsenyi, Sara
Levay, Gyoergy
Roman, Viktor
Kobolak, Julianna
Dinnyes, Andras
STEM CELL RESEARCH, 2016, 17 (03) : 531 - 533
[30] Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Kleefstra, Tjitske
Brunner, Han G.
Amiel, Jeanne
Oudakker, Astrid R.
Nillesen, Willy M.
Magee, Alex
Genevieve, David
Cormier-Daire, Valerie
van Esch, Hilde
Fryns, Jean-Pierre
Hamel, Ben C. J.
Sistermans, Erik A.
de Vries, Bert B. A.
van Bokhoven, Hans
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (02) : 370 - 377

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