Nature Genetics
37, 468 - 470 (2005)
Published online: 10 April 2005; | doi:10.1038/ng1548
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionHugo Vega1, 2, Quinten Waisfisz3, Miriam Gordillo2, 4, Norio Sakai2, Itaru Yanagihara5, Minoru Yamada5, Djoke van Gosliga3, Hülya Kayserili6, Chengzhe Xu2, Keiichi Ozono2, Ethylin Wang Jabs4, Koji Inui2
& Hans Joenje31
Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia. 2
Department of Developmental Medicine (Pediatrics) D-5, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. 3
Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands. 4
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 North Broadway, Baltimore, Maryland, 21205, USA. 5
Department of Developmental Infectious Diseases, Research Institute, Osaka Medical Center for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. 6
Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Cad., Capa 34390, Istanbul, Turkey.
Correspondence should be addressed to Hugo Vega hhvegaf@unal.edu.co or Ethylin Wang Jabs ejabs1@jhem.jhmi.eduRoberts 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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