| First Author | Alkuraya FS | Year | 2006 |
| Journal | Science | Volume | 313 |
| Issue | 5794 | Pages | 1751 |
| PubMed ID | 16990542 | Mgi Jnum | J:112841 |
| Mgi Id | MGI:3663824 | Doi | 10.1126/science.1128406 |
| Citation | Alkuraya FS, et al. (2006) SUMO1 haploinsufficiency leads to cleft lip and palate. Science 313(5794):1751 |
| abstractText | 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. |
