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

Hugo Vega; Quinten Waisfisz; Miriam Gordillo; Norio Sakai; Itaru Yanagihara; Minoru Yamada; Djoke Van Gosliga; Hülya Kayserili; Chengzhe Xu; Keiichi Ozono; Ethylin Wang Jabs; Koji Inui; Hans Joenje

doi:10.1038/ng1548

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

Hugo Vega, Quinten Waisfisz, Miriam Gordillo, Norio Sakai, Itaru Yanagihara, Minoru Yamada, Djoke Van Gosliga, Hülya Kayserili, Chengzhe Xu, Keiichi Ozono, Ethylin Wang Jabs, Koji Inui, Hans Joenje

School of Medicine

Research output: Contribution to journal › Article › peer-review

271 Scopus citations

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.

Original language	English (US)
Pages (from-to)	468-470
Number of pages	3
Journal	Nature Genetics
Volume	37
Issue number	5
DOIs	https://doi.org/10.1038/ng1548
State	Published - May 2005

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., Van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., & Joenje, H. (2005). Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genetics, 37(5), 468-470. https://doi.org/10.1038/ng1548

Vega, H, Waisfisz, Q, Gordillo, M, Sakai, N, Yanagihara, I, Yamada, M, Van Gosliga, D, Kayserili, H, Xu, C, Ozono, K, Jabs, EW, Inui, K & Joenje, H 2005, 'Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion', Nature Genetics, vol. 37, no. 5, pp. 468-470. https://doi.org/10.1038/ng1548

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

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.",

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T1 - Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

AU - Vega, Hugo

AU - Waisfisz, Quinten

AU - Gordillo, Miriam

AU - Sakai, Norio

AU - Yanagihara, Itaru

AU - Yamada, Minoru

AU - Van Gosliga, Djoke

AU - Kayserili, Hülya

AU - Xu, Chengzhe

AU - Ozono, Keiichi

AU - Jabs, Ethylin Wang

AU - Inui, Koji

AU - Joenje, Hans

PY - 2005/5

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AB - 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.

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

Abstract

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