Genome diversity and instability in human germ cells and preimplantation embryos

Autor: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla

Publikováno v: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007
Seminars in Cell & Developmental Biology

Genome diversity is essential for evolution and is of fundamental importance to human health. Generating genome diversity requires phases of DNA damage and repair that can cause genome instability. Humans have a high incidence of de novo congenital d

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https://doi.org/10.1016/j.semcdb.2020.12.007

Genetic insights into biological mechanisms governing human ovarian ageing

Autor: Unnur Styrkarsdottir, Lynda M. Rose, Rehannah Borup, Anne B. Newman, Georgia Chenevix-Trench, Chikashi Terao, Jeremy A. Daniel, Christa Meisinger, Albert V. Smith, Emil Peter Thrane Hertz, Raymond Noordam, Wei He, Jennifer A. Smith, Mikael Eriksson, Konstantin Strauch, Daniel I. Chasman, Nicholas J. Timpson, Melissa A. Troester, Claudia Langenberg, Montserrat Garcia-Closas, Mohammad Arfan Ikram, Sara Lindström, Gad Rennert, Pascal Guénel, Kristina W. Olsen, Pierre Fontanillas, Ozren Polasek, Daniel F. Gudbjartsson, Frank B. Hu, Archie Campbell, Celine M. Vachon, Sheila Ulivi, Robin N Beaumont, Robert Karlsson, Lenore J. Launer, Renée de Mutsert, Annette Peters, David Schlessinger, Stefania Bandinelli, Rico Rueedi, Joop S.E. Laven, Pascal Timshel, Joanne M. Murabito, Kuang Lin, Jazib Hussain, Dennis O. Mook-Kanamori, Manjeet K. Bolla, Catherine E. Aiken, Javier Martin Gonzalez, Simon S. Cross, Immaculata De Vivo, Paul M. Ridker, Christopher A. Haiman, Gerardo Heiss, Jessica Tyrrell, Paul R. H. J. Timmers, Hironori Abe, Mike A. Nalls, Luigi Ferrucci, Natalia Perjakova, Jouke J. Hottenga, Robin G. Walters, Reedik Mägi, Niclas Håkansson, Miriam Dwek, Barbara McKnight, Sandra Turon, Stasa Stankovic, Linda Broer, Stephen J. Chanock, Martina La Bianca, Jenny Chang-Claude, Loic Le Marchand, Hamdi Mbarek, Doris Stöckl, Andrew F. Olshan, Graham G. Giles, James F. Wilson, Micaella Joaquim, Amruta Shrikhande, Eva Hoffmann, Stefania Benonisdottir, Ana Martínez-Marchal, Anthony J. Swerdlow, David Karasik, Nicholas J. Wareham, Peter A. Fasching, Jane L. Tarry-Adkins, Charles Kooperberg, Peter Vollenweider, Douglas F. Easton, Paula Aguilera, Jessica D. Faul, Patrik K. E. Magnusson, Emmanouil Saloustros, Alpa V. Patel, Ellen W. Demerath, Qin Wang, Aditya Sankar, Christopher G. Scott, Iffat Rahman, Sharon L.R. Kardia, Peter K. Joshi, Caterina Barbieri, Claus Yding Andersen, Tõnu Esko, Massimo Mezzavilla, Nicholas G. Martin, Rebecca D. Jackson, Alison D. Murray, Marina Ciullo, Nicholas Bowker, Anna Murray, Patrick Deelen, Zoltán Kutalik, Alicja Wolk, Manuela Gago-Dominguez, Eleonora Porcu, Laura Crisponi, Michela Traglia, Katharina E. Schraut, Antonietta Robino, Chunyan He, Bruce H. R. Wolffenbuttel, Henry Völzke, Daniela Ruggiero, John R. B. Perry, Lude Franke, Igor Rudan, Angela Cox, Unnur Þorsteinsdottir, Christian Gieger, David R. Weir, Jodie N. Painter, Martha S. Linet, Massimo Mangino, Melissa C. Southey, Petr Solc, Tim D. Spector, Christiana Kartsonaki, Momoko Horikoshi, Meir J. Stampfer, Eulalia Catamo, Mònica Ferrer-Roda, Ko Willems van Dijk, Daniela Toniolo, Caroline Hayward, Lili Milani, Chloé Sarnowski, Jian'an Luan, Behrooz Z. Alizadeh, Jenny A. Visser, Stig E. Bojesen, Genevieve Lachance, Ulrike Peters, Antonella Mulas, John J. Spinelli, Elnaz Naderi, Andrew R. Wood, Paul D.P. Pharoah, Elinor J. Sawyer, Annique Claringbould, Saleh Shekari, David G. Hunter, Marie Louise Grøndahl, Vilmundur Gudnason, Nora Franceschini, Dale P. Sandler, Dale R. Nyholt, Jacques E. Rossouw, Amber N. Wilcox, Thomas U. Ahearn, Hedy S. Rennert, Olivier B. Bakker, Jingmei Li, Francesco Cucca, Eric Boerwinkle, Matthias W. Beckmann, Cristina Menni, Minouk J. Schoemaker, Esther M. John, Tune H. Pers, Andrés J. López-Contreras, Tanguy Corre, Jonathan Marten, Alice M. Arnold, N. Charlotte Onland-Moret, Lucie Knoblochova, Anna Pujol, Kathryn L. Lunetta, Marjanka K. Schmidt, Teresa Nutile, Serena Sanna, Gonneke Willemsen, Roger L. Milne, Kristan J. Aronson, Frits R. Rosendaal, Murielle Bochud, Ken K. Ong, Susan M. Ring, Nancy L. Pedersen, Blair H. Smith, Ivana Kolcic, Annelie Augustinsson, Jose E. Castelao, Alexander Teumer, Felix R. Day, Sven Bergmann, Timothy M. Frayling, Lauren R. Teras, George Davey Smith, Thomas Meitinger, Alison M. Dunning, Ignasi Roig, Dorret I. Boomsma, Harald Grallert, Toshiko Tanaka, Katherine S. Ruth, Julie E. Buring, Marek Zygmunt, Uwe Völker, Irene L. Andrulis, Håkan Olsson, Harry Campbell, Cari M. Kitahara, Annika Lindblom, Yvonne T. van der Schouw, Cinzia Sala, Debbie A Lawlor, Joe Dennis, Yongmei Liu, Yan Huang, Stephen Burgess, Brumat Marco, Veronique Vitart, Kari Stefansson, Susan E. Ozanne, Kamila Czene, Simin Liu, John L. Hopper, Joyce B. J. van Meurs, Satoshi H. Namekawa, Miya Kudo Høffding, Fergus J. Couch, Ajuna Azad, Eco J. C. de Geus, Liming Li, Grant W. Montgomery, Peter Kraft, André G. Uitterlinden, Arto Mannermaa, Heiko Becher, Allison W. Kurian, Vallari Shukla, Zhengming Chen, Per Hall, Jennifer A. Brody, Rossella Sorice, Wei Zhao, Andres Metspalu, Sarah E. Medland, Tricia Lindstrom, Clarice R. Weinberg, Bruce M. Psaty, Thérèse Truong, Anna Marie Mulligan, Deborah J. Thompson, Patrick Sulem

Publikováno v: University of Bristol-PURE
Nature, 596(7872), 393-397. NATURE PORTFOLIO
Nature 596, 393-397 (2021)
Nature, 596(7872), 393-397. Nature Publishing Group
Nature (Lond.) 596 (2021): 393–397. doi:10.1038/s41586-021-03779-7
info:cnr-pdr/source/autori:Ruth K.S.; Day F.R.; Hussain J.; Martinez-Marchal A.; Aiken C.E.; Azad A.; Thompson D.J.; Knoblochova L.; Abe H.; Tarry-Adkins J.L.; Gonzalez J.M.; Fontanillas P.; Claringbould A.; Bakker O.B.; Sulem P.; Walters R.G.; Terao C.; Turon S.; Horikoshi M.; Lin K.; Onland-Moret N.C.; Sankar A.; Hertz E.P.T.; Timshel P.N.; Shukla V.; Borup R.; Olsen K.W.; Aguilera P.; Ferrer-Roda M.; Huang Y.; Stankovic S.; Timmers P.R.H.J.; Ahearn T.U.; Alizadeh B.Z.; Naderi E.; Andrulis I.L.; Arnold A.M.; Aronson K.J.; Augustinsson A.; Bandinelli S.; Barbieri C.M.; Beaumont R.N.; Becher H.; Beckmann M.W.; Benonisdottir S.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Boomsma D.I.; Bowker N.; Brody J.A.; Broer L.; Buring J.E.; Campbell A.; Campbell H.; Castelao J.E.; Catamo E.; Chanock S.J.; Chenevix-Trench G.; Ciullo M.; Corre T.; Couch F.J.; Cox A.; Crisponi L.; Cross S.S.; Cucca F.; Czene K.; Smith G.D.; de Geus E.J.C.N.; de Mutsert R.; De Vivo I.; Demerath E.W.; Dennis J.; Dunning A.M.; Dwek M.; Eriksson M.; Esko T.; Fasching P.A.; Faul J.D.; Ferrucci L.; Franceschini N.; Frayling T.M.; Gago-Dominguez M.; Mezzavilla M.; Garcia-Closas M.; Gieger C.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Gudnason V.; Guenel P.; Haiman C.A.; Hakansson N.; Hall P.; Hayward C.; He C.; He W.; Heiss G.; Hoffding M.K.; Hopper J.L.; Hottenga J.J.; Hu F.; Hunter D.; Ikram M.A.; Jackson R.D.; Joaquim M.D.R.; John E.M.; Joshi P.K.; Karasik D.; Kardia S.L.R.; Kartsonaki C.; Karlsson R.; Kitahara C.M.; Kolcic I.; Kooperberg C.; Kraft P.; Kurian A.W.; Kutalik Z.; La Bianca M.; LaChance G.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lawlor D.A.; Le Marchand L.; Li J.; Lindblom A.; Lindstrom S.; Lindstrom T.; Linet M.; Liu Y.M.; Liu S.; Luan J.; Magi R.; Magnusson P.K.E.; Mangino M.; Mannermaa A.; Marco B.; Marten J.; Martin N.G.; Mbarek H.; McKnight B.; Medland S.E.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Milani L.; Milne R.L.; Montgomery G.W.; Mook-Kanamori D.O.; Mulas A.; Mulligan A.M.; Murray A.; Nalls M.A.; Newman A.; Noordam R.; Nutile T.; Nyholt D.R.; Olshan A.F.; Olsson H.; Painter J.N.; Patel A.V.; Pedersen N.L.; Perjakova N.; Peters A.; Peters U.; Pharoah P.D.P.; Polasek O.; Porcu E.; Psaty B.M.; Rahman I.; Rennert G.; Rennert H.S.; Ridker P.M.; Ring S.M.; Robino A.; Rose L.M.; Rosendaal F.R.; Rossouw J.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Saloustros E.; Sandler D.P.; Sanna S.; Sawyer E.J.; Sarnowski C.; Schlessinger D.; Schmidt M.K.; Schoemaker M.J.; Schraut K.E.; Scott C.; Shekari S.; Shrikhande A.; Smith A.V.; Smith B.H.; Smith J.A.; Sorice R.; Southey M.C.; Spector T.D.; Spinelli J.J.; Stampfer M.; Stockl D.; van Meurs J.B.J.; Strauch K.; Styrkarsdottir U.; Swerdlow A.J.; Tanaka T.; Teras L.R.; Teumer A.; Thorsteinsdottir U.; Timpson N.J.; Toniolo D.; Traglia M.; Troester M.A.; Truong T.; Tyrrell J.; Uitterlinden A.G.; Ulivi S.; Vachon C.M.; Vitart V.; Volker U.; Vollenweider P.; Volzke H.; Wang Q.; Wareham N.J.; Weinberg C.R.; Weir D.R.; Wilcox A.N.; van Dijk K.W.; Willemsen G.; Wilson J.F.; Wolffenbuttel B.H.R.; Wolk A.; Wood A.R.; Zhao W.; Zygmunt M.; Chen Z.; Li L.; Franke L.; Burgess S.; Deelen P.; Pers T.H.; Grondahl M.L.; Andersen C.Y.; Pujol A.; Lopez-Contreras A.J.; Daniel J.A.; Stefansson K.; Chang-Claude J.; van der Schouw Y.T.; Lunetta K.L.; Chasman D.I.; Easton D.F.; Visser J.A.; Ozanne S.E.; Namekawa S.H.; Solc P.; Murabito J.M.; Ong K.K.; Hoffmann E.R.; Murray A.; Roig I.; Perry J.R.B./titolo:Genetic insights into biological mechanisms governing human ovarian ageing/doi:10.1038%2Fs41586-021-03779-7/rivista:Nature (Lond.)/anno:2021/pagina_da:393/pagina_a:397/intervallo_pagine:393–397/volume:596
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Nature
Ruth, K S, Day, F R, Hussain, J, Martinez-Marchal, A, Aiken, C E, Azad, A, Thompson, D J, Knoblochova, L, Abe, H, Tarry-Adkins, J L, Gonzalez, J M, Fontanillas, P, Claringbould, A, Bakker, O B, Sulem, P, Walters, R G, Terao, C, Turon, S, Horikoshi, M, Lin, K, Onland-Moret, N C, Sankar, A, Hertz, E P T, Timshel, P N, Shukla, V, Borup, R, Olsen, K W, Aguilera, P, Ferrer-Roda, M, Huang, Y, Stankovic, S, Timmers, P R H J, Ahearn, T U, Alizadeh, B Z, Naderi, E, Andrulis, I L, Arnold, A M, Aronson, K J, Augustinsson, A, Bojesen, S E, Hoffding, M K, Shrikhande, A, Pers, T H, Grøndahl, M L, Andersen, C Y, Lopez-Contreras, A J, Daniel, J A, Hoffmann, E R, Biobank-based Integrative Omics St, eQTLGen Consortium, BioBank Japan Project, China Kadoorie Biobank Collaborati, kConFab Investigators, LifeLines Cohort Study, InterAct Consortium & 23 Me Res Team 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature, vol. 596, pp. 393-397 . https://doi.org/10.1038/s41586-021-03779-7
Ruth, K S, Davey Smith, G, Lawlor, D A, Ring, S M, Timpson, N J, Perry, J R B & al., E 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature . https://doi.org/10.1038/s41586-021-03779-7
Ruth, K S, Boomsma, D I, de Geus, E J C N, Hottenga, J J, Willemsen, G, Murray, A, Perry, J R B, China Kadoorie Biobank Collaborative Group, kConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, 23Andme Research Team, Biobank-based Integrative Omics Study (BIOS) Consortium, eQTLGen Consortium & The Biobank Japan Project 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature, vol. 596, no. 7872, pp. 393-397 . https://doi.org/10.1038/s41586-021-03779-7
2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature . https://doi.org/10.1038/s41586-021-03779-7

Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c116da3463b05311b0eb7aaf58170e4e
https://hdl.handle.net/1887/3217417