Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. 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.
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We thank the families with Roberts syndrome for their interest and cooperation; D. Tomkins for R22 sample; Biobank at the Istituto Giannina Gaslini for R34 sample; and M. Camargo for technical support. H.V. was supported by scholarships from the Japanese Ministry of Education, Culture, Sports, Science and Technology and the Instituto Colombiano para el Desarrollo de la Ciencia y la Tecnologia. M.G. is supported by the Smile Train Fellowship award to the Center for Craniofacial Development and Disorders at Johns Hopkins University. M.G. and E.W.J. were supported by the Louis H. Gross Foundation, J.S. Sutland and L. and S. Pakula. Q.W. was supported by the Netherlands Organization for Health Research and Development.
The authors declare no competing financial interests.
Mutations in ESCO2 in 15 RBS families. (PDF 55 kb)
Map of the genomic region between markers D8S1771 and D8S1820 and gene structure and tissue expression of ESCO2. (PDF 2548 kb)
Multiple protein sequence alignment of ESCO2 vertebrate orthologs. (PDF 1346 kb)
Multiple sequence alignment of the Eco1p domain in different species. (PDF 172 kb)
Mitotic spindle checkpoint study in RBS cells. (PDF 1059 kb)
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Vega, H., Waisfisz, Q., Gordillo, M. et al. 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, 468–470 (2005). https://doi.org/10.1038/ng1548
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