Skip to main content
SpringerLink
Log in

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

  • Brief Communication
  • Published:

From Nature Genetics

View current issue Submit your manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1: Clinical features, cytogenetics genotypes and multipoint linkage analysis of RBS.

Similar content being viewed by others

Accession codes

Accessions

GenBank/EMBL/DDBJ

References

  1. Van Den Berg, D.J. & Francke, U. Am. J. Med. Genet. 47, 1104–1123 (1993).

    Article  CAS  Google Scholar 

  2. German, J. Clin. Genet. 16, 441–447 (1979).

    Article  CAS  Google Scholar 

  3. Ivanov, D. et al. Curr. Biol. 12, 323–328 (2002).

    Article  CAS  Google Scholar 

  4. Skibbens, R.V., Corson, L.B., Koshland, D. & Hieter, P. Genes Dev. 13, 307–319 (1999).

    Article  CAS  Google Scholar 

  5. Tóth, A. et al. Genes Dev. 13, 320–333 (1999).

    Article  Google Scholar 

  6. Tanaka, K. et al. Mol. Cell. Biol. 20, 3459–3469 (2000).

    Article  CAS  Google Scholar 

  7. Williams, B.C. et al. Curr. Biol. 13, 2025–2036 (2003).

    Article  CAS  Google Scholar 

  8. Bellows, A.M., Kenna, M.A., Cassimeris, L. & Skibbens, R.V. Nucleic Acids Res. 31, 6334–6343 (2003).

    Article  CAS  Google Scholar 

  9. Petronczki, M., Siomos, M.F. & Nasmyth, K. Cell 112, 423–440 (2003).

    Article  CAS  Google Scholar 

  10. Jabs, E.W., Tuck-Muller, C.M., Cusano, R. & Rattner, J.B. Chromosoma 100, 251–261 (1991).

    Article  CAS  Google Scholar 

  11. Tomkins, D.J. & Sisken, J.E. Am. J. Hum. Genet. 36, 1332–1340 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Burns, M.A. & Tomkins, D.J. Mutat. Res. 216, 243–249 (1989).

    Article  CAS  Google Scholar 

  13. Gimenez-Abian, J.F. et al. Curr. Biol. 14, 1187–1193 (2004).

    Article  CAS  Google Scholar 

  14. Hoque, M.T. & Ishikawa, F. J. Biol. Chem. 277, 42306–42314 (2002).

    Article  CAS  Google Scholar 

  15. Tomkins, D., Hunter, A. & Roberts, M. Am. J. Med. Genet. 4, 17–26 (1979).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank the families with Roberts syndrome for their interest and cooperation; D. Tomkins for R22 sample; Biobank at the Istituto Giannina Gaslini for R34 sample; and M. Camargo for technical support. H.V. was supported by scholarships from the Japanese Ministry of Education, Culture, Sports, Science and Technology and the Instituto Colombiano para el Desarrollo de la Ciencia y la Tecnologia. M.G. is supported by the Smile Train Fellowship award to the Center for Craniofacial Development and Disorders at Johns Hopkins University. M.G. and E.W.J. were supported by the Louis H. Gross Foundation, J.S. Sutland and L. and S. Pakula. Q.W. was supported by the Netherlands Organization for Health Research and Development.

Author information

Authors and Affiliations

  1. Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá, Colombia

    Hugo Vega

  2. Department of Developmental Medicine (Pediatrics) D-5, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, 565-0871, Osaka, Japan

    Hugo Vega, Miriam Gordillo, Norio Sakai, Chengzhe Xu, Keiichi Ozono & Koji Inui

  3. Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, 1081 BT, The Netherlands

    Quinten Waisfisz, Djoke van Gosliga & Hans Joenje

  4. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 North Broadway, Baltimore, 21205, Maryland, USA

    Miriam Gordillo & Ethylin Wang Jabs

  5. Department of Developmental Infectious Diseases, Research Institute, Osaka Medical Center for Maternal and Child Health, 840 Murodo-cho, Izumi, 594-1101, Osaka, Japan

    Itaru Yanagihara & Minoru Yamada

  6. Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Cad., Capa, Istanbul, 34390, Turkey

    Hülya Kayserili

Authors
  1. Hugo Vega
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Quinten Waisfisz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Miriam Gordillo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Norio Sakai
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Itaru Yanagihara
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Minoru Yamada
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Djoke van Gosliga
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Hülya Kayserili
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Chengzhe Xu
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Keiichi Ozono
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Ethylin Wang Jabs
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Koji Inui
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Hans Joenje
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Hugo Vega or Ethylin Wang Jabs.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Mutations in ESCO2 in 15 RBS families. (PDF 55 kb)

Supplementary Fig. 2

Map of the genomic region between markers D8S1771 and D8S1820 and gene structure and tissue expression of ESCO2. (PDF 2548 kb)

Supplementary Fig. 3

Multiple protein sequence alignment of ESCO2 vertebrate orthologs. (PDF 1346 kb)

Supplementary Fig. 4

Multiple sequence alignment of the Eco1p domain in different species. (PDF 172 kb)

Supplementary Fig. 5

Mitotic spindle checkpoint study in RBS cells. (PDF 1059 kb)

Supplementary Methods (PDF 9 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Vega, H., Waisfisz, Q., Gordillo, M. et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 37, 468–470 (2005). https://doi.org/10.1038/ng1548

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng1548

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation