Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11
| Autor: | Silvia Onesti, Francesca M. Pisani, Luisa M. R. Napolitano, Ettore Napolitano |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
iron-sulphur cluster lcsh:QH426-470 DDX11 DNA repair DNA helicase Review DNA replication Warsaw breakage syndrome CHL1 03 medical and health sciences chemistry.chemical_compound DNA repair/recombination Genetics Genetics (clinical) biology Helicase genome stability maintenance sister chromatid cohesion Establishment of sister chromatid cohesion lcsh:Genetics 030104 developmental biology chemistry biology.protein Chromatid DNA |
| Zdroj: | Genes (Basel) 9 (2018). doi:10.3390/genes9110564 info:cnr-pdr/source/autori:Pisani F. M., Napolitano E., Napolitano L. M. R., Onesti S./titolo:Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11/doi:10.3390%2Fgenes9110564/rivista:Genes (Basel)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:9 Genes Genes, Vol 9, Iss 11, p 564 (2018) |
| DOI: | 10.3390/genes9110564 |
| Popis: | DDX11/ChlR1 (Chl1 in yeast) is a DNA helicase involved in sister chromatid cohesion and in DNA repair pathways. The protein belongs to the family of the iron–sulphur cluster containing DNA helicases, whose deficiencies have been linked to a number of diseases affecting genome stability. Mutations of human DDX11 are indeed associated with the rare genetic disorder named Warsaw breakage syndrome, showing both chromosomal breakages and chromatid cohesion defects. Moreover, growing evidence of a potential role in oncogenesis further emphasizes the clinical relevance of DDX11. Here, we illustrate the biochemical and structural features of DDX11 and how it cooperates with multiple protein partners in the cell, acting at the interface of DNA replication/repair/recombination and sister chromatid cohesion to preserve genome stability. |
| Databáze: | OpenAIRE |
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