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Nat Genet. 2005 May;37(5):468-70. Epub 2005 Apr 10.

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

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  • 1Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia. hhvegaf@unal.edu.co

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.

PMID:
15821733
[PubMed - indexed for MEDLINE]
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