ESCO2 explained

N-acetyltransferase ESCO2, also known as establishment of cohesion 1 homolog 2 or ECO1 homolog 2, is an enzyme that in humans is encoded by the ESCO2 gene.^{[1] [2] [3]}

Function

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of the cell cycle.^[1]

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome.^[4]

See also

• Cohesin#Clinical significance
• Establishment of sister chromatid cohesion

Further reading

• Bender D, De Silva E, Chen J, Poss A, Gawey L, Rulon Z, Rankin, S . Multivalent interaction of ESCO2 with replication machinery is required for sister chromatid cohesion in vertebrates . Proc. Natl. Acad. Sci. U.S.A. . 117 . 2 . 1081–1089 . December 2019 . 31879348 . 10.1073/pnas.1911936117 . 6969535. free .
• Enjuanes A, Benavente Y, Bosch F . Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. . Cancer Res. . 68 . 24 . 10178–86 . 2008 . 19074885 . 10.1158/0008-5472.CAN-08-2221 . etal. free .
• Olsen JV, Blagoev B, Gnad F . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . etal. free .
• Nishihara M, Yamada M, Nozaki M . Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene. . Biochem. Biophys. Res. Commun. . 393 . 1 . 111–7 . 2010 . 20116366 . 10.1016/j.bbrc.2010.01.094 . etal.
• Vega H, Trainer AH, Gordillo M . 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. . J. Med. Genet. . 47 . 1 . 30–7 . 2010 . 19574259 . 10.1136/jmg.2009.068395 . 39261608 . etal.
• van der Lelij P, Godthelp BC, van Zon W . The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. . PLOS ONE . 4 . 9 . e6936 . 2009 . 19738907 . 10.1371/journal.pone.0006936 . 2734174. 2009PLoSO...4.6936V . etal. free .
• Tomkins D, Hunter A, Roberts M . Cytogenetic findings in Roberts-SC phocomelia syndrome(s). . Am. J. Med. Genet. . 4 . 1 . 17–26 . 1979 . 495649 . 10.1002/ajmg.1320040104 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. etal . 2002PNAS...9916899M. free .
• Schüle B, Oviedo A, Johnston K . Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. . Am. J. Hum. Genet. . 77 . 6 . 1117–28 . 2005 . 16380922 . 10.1086/498695 . 1285169. etal.
• Kim BJ, Kang KM, Jung SY . Esco2 is a novel corepressor that associates with various chromatin modifying enzymes. . Biochem. Biophys. Res. Commun. . 372 . 2 . 298–304 . 2008 . 18501190 . 10.1016/j.bbrc.2008.05.056 . etal.
• Schulz S, Gerloff C, Ledig S . Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. . Prenat. Diagn. . 28 . 1 . 42–5 . 2008 . 18186147 . 10.1002/pd.1904 . 5463824 . etal. free .
• Resta N, Susca FC, Di Giacomo MC . A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. . J. Cell. Physiol. . 209 . 1 . 67–73 . 2006 . 16775838 . 10.1002/jcp.20708 . 10531373 . etal.

External links

• GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome

Notes and References

1. Web site: Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae).
2. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H . Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion . Nat. Genet. . 37 . 5 . 468–70 . May 2005 . 15821733 . 10.1038/ng1548 . 22948986 .
3. Hou F, Zou H . Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion . Mol. Biol. Cell . 16 . 8 . 3908–18 . August 2005 . 15958495 . 1182326 . 10.1091/mbc.E04-12-1063 .
4. Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW . The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity . Hum. Mol. Genet. . 17 . 14 . 2172–80 . July 2008 . 18411254 . 10.1093/hmg/ddn116 . free .