دورية أكاديمية
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.
| العنوان: | Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure. |
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| المؤلفون: | Ton ND; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam.; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Nakagawa H; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Ha NH; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Duong NT; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Nhung VP; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Hien LTT; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Hue HTT; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Hoang NH; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam., Wong JH; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan., Nakano K; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Maejima K; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Sasaki-Oku A; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Tsunoda T; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan., Fujimoto A; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan., Van Hai N; Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam. |
| المصدر: | Human mutation [Hum Mutat] 2018 Oct; Vol. 39 (10), pp. 1384-1392. Date of Electronic Publication: 2018 Jul 16. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat |
| أسماء مطبوعة: | Original Publication: New York : Wiley-Liss, c1992- |
| مواضيع طبية MeSH: | Genome-Wide Association Study* , Mutation* , Whole Genome Sequencing*, Dioxins/*adverse effects , Paternal Exposure/*adverse effects, Alleles ; Child ; Dioxins/blood ; Female ; Germ Cells/metabolism ; Germ-Line Mutation ; Humans ; Male ; Mass Spectrometry ; Mutation Rate ; Polymorphism, Single Nucleotide ; Veterans |
| مستخلص: | 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or dioxin, is commonly considered the most toxic man-made substance. Dioxin exposure impacts human health and diseases, birth defects and teratogenesis were frequently observed in children of persons who have been exposed to dioxin. However, the impact of dioxin on human mutation rate in trios has not yet been elucidated at the whole genome level. To identify and characterize the genetic alterations in the individuals exposed to dioxin, we performed whole genome sequencing (WGS) of nine Vietnamese trios whose fathers were exposed to dioxin. In total, 846 de novo point mutations, 26 de novo insertions and deletions, 4 de novo structural variations, and 1 de novo copy number variation were identified. The number of point mutations and dioxin concentrations were positively correlated (P-value < 0.05). Considering the substitution pattern, the number of A > T/T > A mutation and the dioxin concentration was positively correlated (P-value < 0.05). Our analysis also identified one possible disease-related mutation in LAMA5 in one trio. These findings suggested that dioxin exposure might affect father genomes of trios leading to de novo mutations in their children. Further analysis with larger sample sizes would be required to better clarify mutation rates and substitution patterns in trios caused by dioxin. (© 2018 Wiley Periodicals, Inc.) |
| فهرسة مساهمة: | Keywords: LAMA5 gene; dioxin; human de novo mutation rate; mental retardation |
| المشرفين على المادة: | 0 (Dioxins) |
| تواريخ الأحداث: | Date Created: 20180704 Date Completed: 20190813 Latest Revision: 20190813 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1002/humu.23585 |
| PMID: | 29969170 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1098-1004 |
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| DOI: | 10.1002/humu.23585 |