Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
H Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara… - Nature …, 2005 - nature.com
H Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara, M Yamada, D Van Gosliga…
Nature genetics, 2005•nature.comRoberts 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.
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.
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.
nature.com