The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

doi:10.1093/hmg/ddn116

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Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Human molecular genetics - 15 Jul 2008

Gordillo Miriam, Vega Hugo, Trainer Alison H, Hou Fajian, Sakai Norio, Luque Ricardo, Kayserili Hülya, Basaran Seher, Skovby Flemming, Hennekam Raoul C M, Uzielli Maria L Giovannucci, Schnur Rhonda E, Manouvrier Sylvie, Chang Susan, Blair Edward, Hurst Jane A, Forzano Francesca, Meins Moritz, Simola Kalle O J, Raas-Rothschild Annick, Schultz Roger A, McDaniel Lisa D, Ozono Keiichi, Inui Koji, Zou Hui, Jabs Ethylin Wang

Abstract excerpt

Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular alterations in RBS include lack of cohesion at the heterochromatic regions around centromeres and the long arm of the Y chromosome, reduced growth capacity, and hypersensitivity to DNA damaging agents. RBS is caused by mutations in ESCO2, which encodes a protein...

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Identifiers

PMID: 18411254
DOI: 10.1093/hmg/ddn116

Genes

ESCO2

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.PMID 18411254Read ↗

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.Semantic proximity Read ↗

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Non-Redundant Roles in Sister Chromatid Cohesion of the DNA Helicase DDX11 and the SMC3 Acetyl Transferases ESCO1/2Semantic proximity Read ↗

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionSemantic proximity Read ↗

Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.Semantic proximity Read ↗

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Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome.Semantic proximity Read ↗

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