Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A and SMC3 are present in approximately 65% of CdLS patients. In addition to their canonical roles in chromosome segregation, the cohesin proteins are involved in other biological processes such as regulation of gene expression, DNA repair and maintenance of genome stability. To gain insights into the molecular basis of CdLS, we analyzed the affinity of mutated SMC1A and SMC3 hinge domains for DNA. Mutated hinge dimers bind DNA with higher affinity than wild-type proteins. SMC1A- and SMC3-mutated CdLS cell lines display genomic instability and sensitivity to ionizing radiation and interstrand crosslinking agents. We propose that SMC1A and SMC3 CdLS mutations affect the dynamic association between SMC proteins and DNA, providing new clues to the underlying molecular cause of CdLS.
Details
Original language | English |
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Pages (from-to) | 418-27 |
Number of pages | 10 |
Journal | Human Molecular Genetics |
Volume | 18 |
Issue number | 3 |
Publication status | Published - 1 Feb 2009 |
Peer-reviewed | Yes |
External IDs
PubMed | 18996922 |
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PubMedCentral | PMC2722190 |
Scopus | 58749104967 |
Keywords
Keywords
- Cell Cycle Proteins/genetics, Cell Line, Cells, Cultured, Chondroitin Sulfate Proteoglycans/genetics, Chromosomal Proteins, Non-Histone/genetics, DNA/genetics, DNA Damage, DNA-Binding Proteins/genetics, De Lange Syndrome/genetics, Female, Humans, Mutation, Protein Binding