Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Hugo Vega, 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

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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.

Original languageEnglish (US)
Pages (from-to)468-470
Number of pages3
JournalNature Genetics
Volume37
Issue number5
DOIs
Publication statusPublished - May 2005

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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