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

Overview

MeSH Major

  • Acetyltransferases
  • Chromatids
  • Chromosomal Proteins, Non-Histone
  • Chromosome Pairing
  • Cleft Lip
  • Cleft Palate
  • Ectromelia
  • Nuclear Proteins
  • Saccharomyces cerevisiae Proteins

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.

publication date

  • May 2005

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/ng1548

PubMed ID

  • 15821733

Additional Document Info

start page

  • 468

end page

  • 70

volume

  • 37

number

  • 5