Genome-wide patterns and properties of de novo mutations in humans
| العنوان: | Genome-wide patterns and properties of de novo mutations in humans |
|---|---|
| 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. |
| المساهمون: | Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC), Biological Psychology, Culture, Organization and Management, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Epidemiology, Pharmacy |
| المصدر: | Nature Genetics, 47(7), 822-826.e3. Nature Publishing Group Nature Genetics Nature Genetics, 47(7), 822-826. Nature Publishing Group Nature genetics Nature Genetics, 47(7), 822-+. Nature Publishing Group Nature Genetics, 47(7), 822 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 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292Test |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, Netherlands Twin Register (NTR), Mutation rate, Population genetics, Twin Study, DISEASE, Nucleotide diversity, 0302 clinical medicine, Mutation Rate, ELEMENTS, Non-U.S. Gov't, POPULATION, Genetics, 0303 health sciences, education.field_of_study, Research Support, Non-U.S. Gov't, SUBSTITUTION, Mutation (genetic algorithm), Female, Pan troglodytes, Population, DNA-SEQUENCING DATA, Mutagenesis (molecular biology technique), Biology, Research Support, Article, Paternal Age, N.I.H, Evolution, Molecular, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Research Support, N.I.H., Extramural, Journal Article, Animals, Humans, education, Germ-Line Mutation, 030304 developmental biology, Models, Genetic, Genome, Human, Extramural, FRAMEWORK, POLYMORPHISM, RECOMBINATION RATES, RESOLUTION, RADIATION, Human genome, 030217 neurology & neurosurgery |
| الوصف: | Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect(1-10). 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(11-13) but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcriptioncoupled 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. |
| وصف الملف: | image/pdf; application/pdf |
| اللغة: | English |
| تدمد: | 1061-4036 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcffa53d5a79b0ce9e9a5a500dbe44cbTest https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....bcffa53d5a79b0ce9e9a5a500dbe44cb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10614036 |
|---|