Document Detail


SUMO1 haploinsufficiency leads to cleft lip and palate.
MedLine Citation:
PMID:  16990542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Fowzan S Alkuraya; Irfan Saadi; Jennifer J Lund; Annick Turbe-Doan; Cynthia C Morton; Richard L Maas
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  313     ISSN:  1095-9203     ISO Abbreviation:  Science     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-09-22     Completed Date:  2006-10-03     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1751     Citation Subset:  IM    
Affiliation:
Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, NRB-458, 77 Louis Pasteur, Boston, MA 02115, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Animals
Cell Line
Child, Preschool
Cleft Lip / genetics*
Cleft Palate / genetics*
Embryo, Mammalian / cytology,  metabolism
Gene Dosage
Gene Expression Regulation, Developmental
Humans
In Situ Hybridization
Intracellular Signaling Peptides and Proteins / genetics,  metabolism
Karyotyping
Mice
Mice, Inbred C57BL
Morphogenesis
Nuclear Proteins / genetics,  metabolism
Palate / embryology,  metabolism
Protein Tyrosine Phosphatases / genetics,  metabolism
SUMO-1 Protein / genetics*,  physiology
Small Ubiquitin-Related Modifier Proteins / genetics*,  physiology
Stem Cells / metabolism
Translocation, Genetic
Grant Support
ID/Acronym/Agency:
DE015246/DE/NIDCR NIH HHS; DE11697/DE/NIDCR NIH HHS; GM061365/GM/NIGMS NIH HHS; HD043430/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; 0/SUMO-1 Protein; 0/SUMO1 protein, human; 0/Small Ubiquitin-Related Modifier Proteins; EC 3.1.3.48/Eya1 protein, mouse; EC 3.1.3.48/Protein Tyrosine Phosphatases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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