Academic Journal
Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis
| العنوان: | Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis |
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| المؤلفون: | Salehi, Z., Keramatipour, M., Talebi, S., Arab, S.S., Naser Moghadasi, A., Sahraian, M.A., Izad, M. |
| سنة النشر: | 2021 |
| المجموعة: | eprints Iran University of Medical Sciences |
| مصطلحات موضوعية: | WE Musculoskeletal System, QZ Pathology |
| الوصف: | The prevalence of familial multiple sclerosis (FMS) is increasing worldwide which endorses the heritability of the disease. Given that many genome variations are ethnicity-specific and consanguineous marriage could affect genetic diseases, hereditary disease gene analysis among FMS patients from Iran, a country with high rates of parental consanguinity, could be highly effective in finding mutations underlying disease pathogenesis. To examine rare genetic mutations, we selected three Iranian FMS cases with â�¥3 MS patients in more than one generation and performed whole exome sequencing. We identified a homozygous rare missense variant in POLD2 (p. Arg141Cys; rs372336011). Molecular dynamics analysis showed reduced polar dehydration energy and conformational changes in POLD2 mutant. Further, we found a heterozygote rare missense variant in NBFP1 (p. Gly487Asp; rs778806175). Our study revealed the possible role of novel rare variants in FMS. Molecular dynamic simulation provided the initial evidence of the structural changes behind POLD2 mutant. © 2021 Elsevier Inc. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| Relation: | Salehi, Z. and Keramatipour, M. and Talebi, S. and Arab, S.S. and Naser Moghadasi, A. and Sahraian, M.A. and Izad, M. (2021) Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis. Genomics, 113 (4). pp. 2645-2655. |
| الاتاحة: | http://eprints.iums.ac.ir/39130/ https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107822832&doi=10.1016%2fj.ygeno.2021.06.008&partnerID=40&md5=8f94e10238854769c170434f576d89c6 |
| رقم الانضمام: | edsbas.F2E66800 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |