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MBD5 Haploinsufficiency.
Mullegama SV, Mendoza-Londono R, Elsea SH. Mullegama SV, et al. 2016 Oct 27 [updated 2022 Apr 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Oct 27 [updated 2022 Apr 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27786435 Free Books & Documents. Review.
Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%). DIAGNOSIS/TESTING: The diagnosis of MBD5 haploinsufficiency is established in a proband by identification on molecular genetic testing of a heterozygous deletion of 2q23. …
Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%). DIAGNOSIS/TESTING: The diagnosis of …
MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription.
Tang FL, Zhang XG, Ke PY, Liu J, Zhang ZJ, Hu DM, Gu J, Zhang H, Guo HK, Zang QW, Huang R, Ma YL, Kwan P. Tang FL, et al. Neurobiol Dis. 2023 Jun 1;181:106103. doi: 10.1016/j.nbd.2023.106103. Epub 2023 Mar 29. Neurobiol Dis. 2023. PMID: 36997128 Free article.
Pathogenic mutations in the methyl-CpG binding domain protein 5 gene (MBD5) are known to cause epilepsy. However, the function and mechanism of MBD5 in epilepsy remain elusive. ...Collectively, our findings suggest that the MBD5-STAT1-NMDAR pathway may be a n …
Pathogenic mutations in the methyl-CpG binding domain protein 5 gene (MBD5) are known to cause epilepsy. However, the function and me …
MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer.
Tsuboyama N, Szczepanski AP, Zhao Z, Wang L. Tsuboyama N, et al. Genome Biol. 2022 Sep 30;23(1):206. doi: 10.1186/s13059-022-02776-x. Genome Biol. 2022. PMID: 36180891 Free PMC article.
RESULTS: We report the identification of the methyl-CpG-binding domain proteins 5 and 6 (MBD5 and MBD6) that bind to the C-terminal PHD fingers of the large scaffold subunits ASXL1-3 and stabilize the BAP1 complex at the chromatin. ...Therefore, depletion of MBD6 leads to …
RESULTS: We report the identification of the methyl-CpG-binding domain proteins 5 and 6 (MBD5 and MBD6) that bind to the C-terminal P …
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE. Turner TN, et al. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785789 Free PMC article.
As expected, we observe significant enrichment on the X chromosome for females but also find autosomal genes with potential sex bias (females, CDK13, ITPR1; males, CHD8, MBD5, SYNGAP1); 6.5% of females harbor a DNM in a female-enriched gene, whereas 2.7% of males have a DN …
As expected, we observe significant enrichment on the X chromosome for females but also find autosomal genes with potential sex bias (female …
MBD5-related intellectual disability in a Vietnamese child.
Le TNU, Ha TMT. Le TNU, et al. Am J Med Genet A. 2021 Apr;185(4):1321-1323. doi: 10.1002/ajmg.a.62077. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427406
The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5-associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217-1G …
The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders know …
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV, Elsea SH. Mullegama SV, et al. Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222293 Free PMC article. Review.
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common …
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, …
Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior.
Guo J, Zou Z, Dou X, Zhao X, Wang Y, Wei L, Pi Y, Wang Y, He C, Guo S. Guo J, et al. Nucleic Acids Res. 2024 May 8;52(8):4257-4275. doi: 10.1093/nar/gkae093. Nucleic Acids Res. 2024. PMID: 38366571 Free PMC article.
We further show that Mbd5 facilitates removal of the monoubiquitin mark at histone H2A-K119 through an interaction with the Polycomb repressive deubiquitinase (PR-DUB) complex in vivo. The direct target genes of Mbd5 are enriched with both RNA m5C and H2A-K119 ubiqu …
We further show that Mbd5 facilitates removal of the monoubiquitin mark at histone H2A-K119 through an interaction with the Polycomb …
MBD5 and MBD6 couple DNA methylation to gene silencing through the J-domain protein SILENZIO.
Ichino L, Boone BA, Strauskulage L, Harris CJ, Kaur G, Gladstone MA, Tan M, Feng S, Jami-Alahmadi Y, Duttke SH, Wohlschlegel JA, Cheng X, Redding S, Jacobsen SE. Ichino L, et al. Science. 2021 Jun 3:eabg6130. doi: 10.1126/science.abg6130. Online ahead of print. Science. 2021. PMID: 34083448 Free PMC article.
Here we describe two Arabidopsis methyl-CpG binding domain proteins, MBD5 and MBD6, that are recruited to chromatin by recognition of CG methylation, and redundantly repress a subset of genes and transposons without affecting DNA methylation levels. ...
Here we describe two Arabidopsis methyl-CpG binding domain proteins, MBD5 and MBD6, that are recruited to chromatin by recognition of …
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Seabra CM, et al. Mol Autism. 2020 Jun 5;11(1):45. doi: 10.1186/s13229-020-00354-1. Mol Autism. 2020. PMID: 32503625 Free PMC article.
However, little is known concerning the specific function(s) of MBD5. METHODS: To gain insight into the complex interactions associated with alteration of MBD5 in individuals with ASD and related NDDs, we explored the transcriptional landscape of MBD5 haploin …
However, little is known concerning the specific function(s) of MBD5. METHODS: To gain insight into the complex interactions associat …
Single-nucleus RNA-seq reveals that MBD5, MBD6, and SILENZIO maintain silencing in the vegetative cell of developing pollen.
Ichino L, Picard CL, Yun J, Chotai M, Wang S, Lin EK, Papareddy RK, Xue Y, Jacobsen SE. Ichino L, et al. Cell Rep. 2022 Nov 22;41(8):111699. doi: 10.1016/j.celrep.2022.111699. Cell Rep. 2022. PMID: 36417865 Free PMC article.
Consistently, crossing mbd5/6 to histone 1 mutants, which have decondensed chromatin in leaves, reveals derepression of MBD5/6-dependent TEs in leaves. MBD5/6 and SILENZIO thus act as a silencing system particularly important when chromatin compaction is comp …
Consistently, crossing mbd5/6 to histone 1 mutants, which have decondensed chromatin in leaves, reveals derepression of MBD5/6 …
121 results