Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
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.
Vega
Hugo
H
Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia. hhvegaf@unal.edu.co
Waisfisz
Quinten
Q
Gordillo
Miriam
M
Sakai
Norio
N
Yanagihara
Itaru
I
Yamada
Minoru
M
van Gosliga
Djoke
D
Kayserili
Hülya
H
Xu
Chengzhe
C
Ozono
Keiichi
K
Jabs
Ethylin Wang
EW
Inui
Koji
K
Joenje
Hans
H
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
D002868:Chromosomal Proteins, Non-Histone; D009687:Nuclear Proteins; D029701:Saccharomyces cerevisiae Proteins; D000123:Acetyltransferases; C118076:ECO1 protein, S cerevisiae; C500785:ESCO2 protein, human