Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development
Acta Biochimica Polonica, 2023 This study investigated the biological role and mechanism of circMETTL15 in colorectal cancer (CRC). Cancer tissues and matched adjacent normal tissues were collected. CircMETTL15, miR-374a-5p, and ESCO2 levels were detected by RT-qPCR and Western Blot. LoVo cells were selected for loss- and gain-of-function assays and rescue assays. Cell proliferation
Feng Guo +3 more
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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome [PDF]
Journal of Medical Genetics, 2009 Background Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations ...
Horacio Astudillo‐de la Vega +16 more
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Reduced sister chromatid cohesion acts as a tumor penetrance modifier. [PDF]
PLoS Genetics, 2022 Sister chromatid cohesion (SCC) is an important process in chromosome segregation. ESCO2 is essential for establishment of SCC and is often deleted/altered in human cancers.
Jun Wang +9 more
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Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression [PDF]
Proceedings of the National Academy of Sciences, 2017 Significance Sister chromatids are tethered together by the cohesin complex from the time they are made until cell division. Acetylation of the Smc3 subunit of cohesin stabilizes its association with chromatin, and is critical for sister chromatid cohesion. In vertebrates, cohesin is acetylated by two related enzymes: Esco1 and Esco2. We show
Reem M. Alomer +7 more
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ESCO2’s oncogenic role in human tumors: a pan-cancer analysis and experimental validation [PDF]
BMC CancerPurpose Establishment of sister chromatid cohesion N-acetyltransferase 2 (ESCO2) is involved in the mitotic S-phase adhesins acetylation and is responsible for bridging two sister chromatids.
Yue Huang +9 more
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Esco2 and Cohesin Regulate CRL4 Ubiquitin Ligase ddb1 Expression and Thalidomide Teratogenicity [PDF]
Cell Cycle, 2020 ABSTRACTCornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including SMC3, CdLS) and ESCO2 (RBS). Though ESCO2 activate cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable.
Annie C. Sanchez +3 more
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Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant [PDF]
Journal of Pediatric Genetics, 2019 AbstractRoberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age.
Carla Bastos da Costa Almeida +9 more
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The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. [PDF]
PLoS ONE, 2009 Cohesion between sister chromatids is essential for faithful chromosome segregation. In budding yeast, the acetyltransferase Eco1/Ctf7 establishes cohesion during DNA replication in S phase and in response to DNA double strand breaks in G2/M phase.
Petra van der Lelij +12 more
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Multivalent interaction of ESCO2 with the replication machinery is required for cohesion [PDF]
, 2019 AbstractThe tethering together of sister chromatids by the cohesin complex ensures their accurate alignment and segregation during cell division. In vertebrates, the establishment of cohesion between sister chromatids requires the activity of the ESCO2 acetyltransferase, which modifies the Smc3 subunit of cohesin.
Dawn E. Bender +6 more
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Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation [PDF]
The American Journal of Human Genetics, 2005 The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood.
Birgitt Schüle +4 more
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