دورية أكاديمية
Genome-wide patterns and properties of de novo mutations in humans
| العنوان: | Genome-wide patterns and properties of de novo mutations in humans |
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| المؤلفون: | Francioli, L.C., Polak, P.P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C.M., Swertz, M.A., Wijmenga, C., van Ommen, G.J., Slagboom, P.E., Boomsma, D.I., Ye, K., Guryev, V., Arndt, P.F., Kloosterman, W.P., Bakker, P.I.W., Sunyaev, S.R., Dijk, F., Neerincx, P.B.T., Pulit, S.L., Deelen, P., Elbers, C.C., Palamara, P.F., Pe'er, I., Abdellaoui, A., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Stoneking, M., de Knijff, P., Kayser, M., Veldink, J.H., Van den Berg, L.H., Byelas, H., den Dunnen, J.T., Dijkstra, M., Amin, N., van der Velde, K.J., Hottenga, J.J., van Setten, J., van Leeuwen, E.M., Kanterakis, A., Kattenberg, V.M., Karssen, L.C., van Schaik, B.D.C., Bot, J., Nijman, I.J., van Enckevort, D., Mei, H., Koval, V., Estrada, K., Medina-Gomez, C., Lameijer, E.W., Moed, M.H., Hehir-Kwa, J.Y., Handsaker, R.E., McCarroll, S.A., Vuzman, D., Sohail, M., Hormozdiari, F., Marschall, T., Schönhuth, A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B., Isaacs, A., Rivadeneira, F., Uitterlinden, A.G., Willemsen, G., Platteel, M., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Brandsma, M. |
| المصدر: | Francioli , L C , Polak , P P , Koren , A , Menelaou , A , Chun , S , Renkens , I , van Duijn , C M , Swertz , M A , Wijmenga , C , van Ommen , G J , Slagboom , P E , Boomsma , D I , Ye , K , Guryev , V , Arndt , P F , Kloosterman , W P , Bakker , P I W , Sunyaev , S R , Dijk , F , Neerincx , P B T , Pulit , S .... |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR) |
| الوصف: | Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show that de novo mutations in the offspring of older fathers are not only more numerous but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcription-coupled repair, whereas mutation clusters with a unique signature point to a new mutational mechanism. Mutation and recombination rates independently associate with nucleotide diversity, and regional variation in human-chimpanzee divergence is only partly explained by heterogeneity in mutation rate. Finally, we provide a genome-wide mutation rate map for medical and population genetics applications. Our results provide new insights and refine long-standing hypotheses about human mutagenesis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://research.vu.nl/en/publications/66af59bc-601b-41a7-be58-fe092af15064Test |
| DOI: | 10.1038/ng.3292 |
| الإتاحة: | https://doi.org/10.1038/ng.3292Test https://research.vu.nl/en/publications/66af59bc-601b-41a7-be58-fe092af15064Test https://hdl.handle.net/1871.1/66af59bc-601b-41a7-be58-fe092af15064Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.34A6C2C8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.3292 |
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