التفاصيل البيبلوغرافية
| العنوان: |
Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology |
| المؤلفون: |
Diana Santos, Mohammad Mahtab, Ana Boavida, Francesca M. Pisani |
| المصدر: |
International Journal of Molecular Sciences; Volume 22; Issue 5; Pages: 2308 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2021 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
DDX11, DNA helicase, DNA replication, G-quadruplexes, sister chromatid cohesion, cohesinopathies |
| جغرافية الموضوع: |
agris |
| الوصف: |
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1, orthologous to the yeast chromosome loss protein 1 (Chl1). WABS is classified in the group of “cohesinopathies”, rare hereditary diseases that are caused by mutations in genes coding for subunits of the cohesin complex or protein factors having regulatory roles in the sister chromatid cohesion process. In fact, among the cohesion regulators, an important player is DDX11, which is believed to be important for the functional coupling of DNA synthesis and cohesion establishment at the replication forks. Here, we will review what is known about the molecular and cellular functions of human DDX11 and its role in WABS etiopathogenesis, even in light of recent findings on the role of cohesin and its regulator network in promoting chromatin loop formation and regulating chromatin spatial organization. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
Molecular Role of Xenobiotics; https://dx.doi.org/10.3390/ijms22052308Test |
| DOI: |
10.3390/ijms22052308 |
| الإتاحة: |
https://doi.org/10.3390/ijms22052308Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.28C46E9D |
| قاعدة البيانات: |
BASE |
