Journal home
Advance online publication
Current issue
Archive
Press releases
Free Association (blog)
Supplements
Focuses
Guide to authors
Online submissionOnline submission
For referees
Free online issue
Contact the journal
Subscribe
Advertising
work@npg
Reprints and permissions
About this site
For librarians
 
NPG Resources
Nature
Nature Biotechnology
Nature Cell Biology
Nature Medicine
Nature Methods
Nature Reviews Cancer
Nature Reviews Genetics
Nature Reviews Molecular Cell Biology
news@nature.com
Nature Conferences
RNAi Gateway
NPG Subject areas
Biotechnology
Cancer
Chemistry
Clinical Medicine
Dentistry
Development
Drug Discovery
Earth Sciences
Evolution & Ecology
Genetics
Immunology
Materials Science
Medical Research
Microbiology
Molecular Cell Biology
Neuroscience
Pharmacology
Physics
Browse all publications
Brief Communication
Nature Genetics  37, 468 - 470 (2005)
Published online: 10 April 2005; | 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 Vega1, 2, Quinten Waisfisz3, Miriam Gordillo2, 4, Norio Sakai2, Itaru Yanagihara5, Minoru Yamada5, Djoke van Gosliga3, Hülya Kayserili6, Chengzhe Xu2, Keiichi Ozono2, Ethylin Wang Jabs4, Koji Inui2 & Hans Joenje3

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

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

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

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

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

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

Correspondence should be addressed to Hugo Vega hhvegaf@unal.edu.co or Ethylin Wang Jabs ejabs1@jhem.jhmi.edu
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.


MORE ARTICLES LIKE THIS

These links to content published by NPG are automatically generated.

 Top
Abstract
Previous | Next
Table of contents
Full textFull text
Download PDFDownload PDF
Send to a friendSend to a friend
Save this linkSave this link

Open Innovation Challenges

naturejobs

Figures & Tables
Supplementary info
Export citation
natureproducts

Search buyers guide:

 
ADVERTISEMENT
 
Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
Journal home | Advance online publication | Current issue | Archive | Press releases | Supplements | Focuses | For authors | Online submission | Permissions | For referees | Free online issue | About the journal | Contact the journal | Subscribe | Advertising | work@npg | naturereprints | About this site | For librarians
Nature Publishing Group, publisher of Nature, and other science journals and reference works©2005 Nature Publishing Group | Privacy policy