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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Lewis, Susanna M. Elledge, Stephen J. Hajdu, Ildiko Ciccia, Alberto |
| Description | Author Affiliation: Hajdu I ( Department of Genetics, Howard Hughes Medical Institute, Division of Genetics, Brigham and Women's Hospital, Harvard University Medical School, Boston, MA 02115, USA.); |
| Abstract | Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with growth retardation, mental retardation, and immunodeficiency resulting from a hemizygous deletion of the short arm of chromosome 4, called the WHS critical region (WHSC). The WHSC1 gene is located in this region, and its loss is believed to be responsible for a number of WHS characteristics. We identified WHSC1 in a genetic screen for genes involved in responding to replication stress, linking Wolf-Hirschhorn syndrome to the DNA damage response (DDR). Here, we report that the WHSC1 protein is a member of the DDR pathway. WHSC1 localizes to sites of DNA damage and replication stress and is required for resistance to many DNA-damaging and replication stress-inducing agents. Through its SET domain, WHSC1 regulates the methylation status of the histone H4 K20 residue and is required for the recruitment of 53BP1 to sites of DNA damage. We propose that Wolf-Hirschhorn syndrome results from a defect in the DDR. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 32 |
| Volume Number | 108 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2011-08-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | DNA Damage Histone-Lysine N-Methyltransferase Metabolism Repressor Proteins Wolf-Hirschhorn Syndrome Pathology Cell Line, Tumor Checkpoint Kinase 2 DNA Replication Drug Effects Enzyme Activation Gene Silencing Deficiency Histones Hydroxyurea Pharmacology Intracellular Signaling Peptides And Proteins Lysine Methylation Phosphorylation Protein Transport Protein-Serine-Threonine Kinases Replication Protein A Stress, Physiological Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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