| Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. | |
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MedLine Citation:
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PMID: 19251731 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. To address the cause of locus heterogeneity resulting in an indistinguishable heart-hand phenotype, we carried out in situ hybridization and immunofluorescence and identified co-localization of Evc and Lbn mRNA and protein. In the heart, expression was identified to be strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. Finally, we studied the transcriptional hierarchy of EVC and LBN but did not find any evidence of direct transcriptional interregulation between the two. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, we speculate that these proteins function coordinately in cardiac development and that loss of this coordinate function results in the characteristics of EvC syndrome. |
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Authors:
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Kristen Lipscomb Sund; Stephanie Roelker; Vijaya Ramachandran; Lisa Durbin; D Woodrow Benson |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-02-27 |
Journal Detail:
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Title: Human molecular genetics Volume: 18 ISSN: 1460-2083 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-04-23 Completed Date: 2009-07-14 Revised Date: 2010-09-23 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
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Languages: eng Pagination: 1813-24 Citation Subset: IM |
Affiliation:
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Division of Cardiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cardiovascular Diseases / genetics*, metabolism Cohort Studies Ellis-Van Creveld Syndrome / genetics*, metabolism Female Gene Expression Heart / growth & development* Humans Male Membrane Proteins / genetics*, metabolism Mice Mice, Inbred C57BL Mutation Myocardium / metabolism NIH 3T3 Cells Proteins / genetics*, metabolism |
| Grant Support | |
ID/Acronym/Agency:
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HL074728/HL/NHLBI NIH HHS; HL69712/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/EVC protein, human; 0/EVC2 protein, human; 0/EVC2 protein, mouse; 0/Evc protein, mouse; 0/Membrane Proteins; 0/Proteins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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