The role of SMARCAL1 in replication fork stability and telomere maintenance |
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| Affiliation: | 1. Department of Pathology, University of Rochester Medical Center, Rochester, NY 14642;2. Department of Biostatistics, University of Rochester Medical Center, Rochester, NY 14642;3. Department of Pathology, Lenox Hill Hospital-NS/LIJ Health System, New York, NY 10065;4. Department of Hematology and Oncology, University of Rochester Medical Center, Rochester, NY 14642;5. Department of Pathology, Mount Sinai Medical Center, New York, NY 10029 |
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| Abstract: | SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1), also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions. In this review, we summarize the main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress. |
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| Keywords: | DNA replication DNA replication stress SMARCAL1 Telomeres |
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