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.
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.
authors.affiliation: Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia. hhvegaf@unal.edu.co
authors.forename: Hugo
authors.initials: H
authors.lastname: Vega
authors.forename: Quinten
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: Miriam
authors.initials: M
authors.lastname: Gordillo
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Itaru
authors.initials: I
authors.lastname: Yanagihara
authors.forename: Minoru
authors.initials: M
authors.lastname: Yamada
authors.forename: Djoke
authors.initials: D
authors.lastname: van Gosliga
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Chengzhe
authors.initials: C
authors.lastname: Xu
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
authors.forename: Ethylin Wang
authors.initials: EW
authors.lastname: Jabs
authors.forename: Koji
authors.initials: K
authors.lastname: Inui
authors.forename: Hans
authors.initials: H
authors.lastname: Joenje
mesh_terms: D000123:Acetyltransferases / Q000235:genetics* / Q000502:physiology; D002842:Chromatids / Q000502:physiology*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism; D023902:Chromosome Pairing / Q000502:physiology*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics* / Q000502:physiology
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D009687:Nuclear Proteins; D029701:Saccharomyces cerevisiae Proteins; D000123:Acetyltransferases; C118076:ECO1 protein, S cerevisiae; C500785:ESCO2 protein, human