SUMO1 haploinsufficiency leads to cleft lip and palate.

Science

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, NRB-458, 77 Louis Pasteur, Boston, MA 02115, USA.

Published: September 2006

The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. In mouse, we found that Sumo1 is expressed in the developing lip and palate and that a Sumo1 hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype. Products of several genes implicated in clefting are sumoylated, and the Sumo1 hypomorphic allele interacts genetically with a loss-of-function allele for one of these loci. Thus, sumoylation defines a network of genes important for palatogenesis.

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1128406DOI Listing

Publication Analysis

Top Keywords

lip palate
12
cleft lip
8
sumo1 hypomorphic
8
hypomorphic allele
8
sumo1
5
sumo1 haploinsufficiency
4
haploinsufficiency leads
4
leads cleft
4
palate posttranslational
4
posttranslational modification
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!