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- Title
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
- Authors
Vega, Hugo; Waisfisz, Quinten; Gordillo, Miriam; Sakai, Norio; Yanagihara, Itaru; Yamada, Minoru; van Gosliga, Djoke; Kayserili, Hülya; Xu, Chengzhe; Ozono, Keiichi; Jabs, Ethylin Wang; Inui, Koji; Joenje, Hans
- Abstract
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.
- Publication
Nature genetics, 2005, Vol 37, Issue 5, p468
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1548