The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity [PDF]
Human Molecular Genetics, 2008 Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular alterations in RBS include lack of cohesion at the heterochromatic regions around centromeres and the long arm of the Y chromosome, reduced growth capacity, and hypersensitivity to DNA damaging agents.
Miriam Gordillo +25 more
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The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis [PDF]
Scientific Reports, 2019 Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects the embryo development has not yet been obtained.
Julia do Amaral Gomes +6 more
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Discovery and validation of proliferative exhausted T cells as a favorable prognostic biomarker in esophageal squamous cell carcinoma [PDF]
Scientific ReportsEsophageal squamous cell carcinoma (ESCC) is an aggressive malignancy with limited therapies and poor prognosis. While exhausted T cell (Tex) heterogeneity under chronic antigen stimulation is recognized, the role of Tex subsets in shaping the tumor ...
Guanyang Li +6 more
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A multimodal genetic testing approach to a diagnosis of Roberts-SC phocomelia syndrome, an ESCO2 spectrum disorder [PDF]
Archives of Oral Biology, 2022 Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction.
Trevor Killeen +3 more
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The EMBO journal, 2011 Sister chromatid cohesion, mediated by cohesin and regulated by Sororin, is essential for chromosome segregation. In mammalian cells, cohesion establishment and Sororin recruitment to chromatin-bound cohesin depends on the acetyltransferases Esco1 and Esco2. Mutations in Esco2 cause Roberts syndrome, a developmental disease in which mitotic chromosomes
Gabriela Whelan +5 more
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Cohesin acetyltransferase Esco2 regulates SAC and kinetochore functions via maintaining H4K16 acetylation during mouse oocyte meiosis [PDF]
Nucleic Acids Research, 2017 Sister chromatid cohesion, mediated by cohesin complex and established by the acetyltransferases Esco1 and Esco2, is essential for faithful chromosome segregation. Mutations in Esco2 cause Roberts syndrome, a developmental disease characterized by severe prenatal retardation as well as limb and facial abnormalities.
Yajuan Lu +6 more
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ATM-ESCO2-SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex. [PDF]
Nucleic Acids Res, 2023 Fu J +6 more
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EG-12 * NOVEL CHROMATIN REGULATORY ACTIVITY OF ESCO2 IN CANCER AND NEURAL DEVELOPMENT
Neuro-Oncology, 2014 ESCO2 has a well characterized role in the stabilization of the cohesin ring through its acetyltransferase activity. Quantitative PCR studies comparing RNA from tissue collected from ependymoma biopsies and tissue from non-tumor brain, show an increased level of ESCO2 transcription in ependymoma.
Nathan Rockwell +5 more
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ESCO2 Inhibits p53 Transcription and Promotes Proliferation and Migration of Lung Cancer Cells [PDF]
, 2021 Abstract Purpose: This study aimed to reveal the expression of the Establishment of Sister Chromatid Cohesion N-acetyltransferase 2 (ESCO2) in non-small-cell lung carcinoma(NSCLC) and the relevant mechanisms. Methods: ESCO2 expression and its correlation with the clinicopathological factors of NSCLC were evaluated via GEO database analysis and ...
Ming Liu, Yinan Ma, Enhua Wang
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Localization and Regulation of Murine Esco2 During Male and Female Meiosis1 [PDF]
Biology of Reproduction, 2012 Elizabeth Evans +5 more
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