| SUMO1 haploinsufficiency leads to cleft lip and palate. | |
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MedLine Citation:
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PMID: 16990542 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Fowzan S Alkuraya; Irfan Saadi; Jennifer J Lund; Annick Turbe-Doan; Cynthia C Morton; Richard L Maas |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Science (New York, N.Y.) Volume: 313 ISSN: 1095-9203 ISO Abbreviation: Science Publication Date: 2006 Sep |
Date Detail:
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Created Date: 2006-09-22 Completed Date: 2006-10-03 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0404511 Medline TA: Science Country: United States |
Other Details:
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Languages: eng Pagination: 1751 Citation Subset: IM |
Affiliation:
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Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, NRB-458, 77 Louis Pasteur, Boston, MA 02115, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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DE015246/DE/NIDCR NIH HHS; DE11697/DE/NIDCR NIH HHS; GM061365/GM/NIGMS NIH HHS; HD043430/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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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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