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. 2005 May;37(5):468-70. doi: 10.1038/ng1548.
Hugo Vega  1 ,  Quinten Waisfisz ,  Miriam Gordillo ,  Norio Sakai ,  Itaru Yanagihara ,  Minoru Yamada ,  Djoke van Gosliga ,  Hülya Kayserili ,  Chengzhe Xu ,  Keiichi Ozono ,  Ethylin Wang Jabs ,  Koji Inui ,  Hans Joenje
Affiliations
  • 1. Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia. [email protected]
PMID: 15821733 DOI: 10.1038/ng1548
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.