Affiliation: Universidad Nacional de Colombia
- Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionHugo Vega
Instituto de Genetica, Universidad Nacional de Colombia, Ciudad Universitaria, Bogota, Colombia
Nat Genet 37:468-70. 2005..The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity...
- 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 syndromeH Vega
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA
J Med Genet 47:30-7. 2010..Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available...
- The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA
Hum Mol Genet 17:2172-80. 2008..In summary, we provide the first evidence that loss of acetyltransferase activity contributes to the pathogenesis of RBS, underscoring the essential role of the enzymatic activity of the Eco1p family of proteins...