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References

1. Dorsett D. Roles of the sister chromatid cohesion apparatus in geneexpression, development, and human syndromes. Chromosoma. 2007 Feb;116(1):1-13.
2. 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 Robertssyndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116.
3. Hou F, Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are bothrequired for proper sister-chromatid cohesion. Mol Biol Cell. 2005Aug;16(8):3908-18.
4. McNairn AJ, Gerton JL. Cohesinopathies: One ring, many obligations. Mutat Res.2008 Dec 1;647(1-2):103-11. doi: 10.1016/j.mrfmmm.2008.08.010.Review.
5. Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C,Guanti G. A homozygous frameshift mutation in the ESCO2 gene: evidence ofintertissue and interindividual variation in Nmd efficiency. J Cell Physiol. 2006Oct;209(1):67-73.
6. Schüle B, Oviedo A, Johnston K, Pai S, Francke U. Inactivating mutations inESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotypecorrelation. Am J Hum Genet. 2005 Dec;77(6):1117-28.
7. Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder. 2006 Apr 18 [updated2020 Mar 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1153/
8. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO,Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic variability in 49 cases ofESCO2 mutations, including novel missense and codon deletion in theacetyltransferase domain, correlates with ESCO2 expression and establishes theclinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7. doi:10.1136/jmg.2009.068395.
9. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van GosligaD, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome iscaused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential forthe establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70.
10. Whelan G, Kreidl E, Wutz G, Egner A, Peters JM, Eichele G. Cohesinacetyltransferase Esco2 is a cell viability factor and is required for cohesionin pericentric heterochromatin. EMBO J. 2012 Jan 4;31(1):71-82. doi:10.1038/emboj.2011.381.