Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing.
Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing.
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DOI：
10.1126/science.1229112
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发表时间：
2012-12-21
期刊：
影响因子：
--
通讯作者：
Xie XS
中科院分区：
文献类型：
--
作者：
Lu S;Zong C;Fan W;Yang M;Li J;Chapman AR;Zhu P;Hu X;Xu L;Yan L;Bai F;Qiao J;Tang F;Li R;Xie XS
Meiotic recombination creates genetic diversity and ensures segregation of homologous chromosomes. Previous population analyses yielded results averaged among individuals and impacted by evolutionary pressures. Here we sequenced 99 sperm from an Asian male using the newly developed amplification method—Multiple Annealing and Looping-Based Amplification Cycles (MALBAC)—to phase the personal genome and map at high resolution recombination events, which are non-uniformly distributed across the genome in the absence of selection pressure. The paucity of recombination near transcription start sites observed in individual sperm indicates such a phenomenon is intrinsic to the molecular mechanism of meiosis. Interestingly, a decreased crossover frequency in companion with an increase of autosomal aneuploidy is observable on a global per-sperm basis.
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影响因子：
64.8
作者：
Peters, Brock A.;Kermani, Bahram G.;Sparks, Andrew B.;Alferov, Oleg;Hong, Peter;Alexeev, Andrei;Jiang, Yuan;Dahl, Fredrik;Tang, Y. Tom;Haas, Juergen;Robasky, Kimberly;Zaranek, Alexander Wait;Lee, Je-Hyuk;Ball, Madeleine Price;Peterson, Joseph E.;Perazich, Helena;Yeung, George;Liu, Jia;Chen, Linsu;Kennemer, Michael I.;Pothuraju, Kaliprasad;Konvicka, Karel;Tsoupko-Sitnikov, Mike;Pant, Krishna P.;Ebert, Jessica C.;Nilsen, Geoffrey B.;Baccash, Jonathan;Halpern, Aaron L.;Church, George M.;Drmanac, Radoje
通讯作者：
Drmanac, Radoje
影响因子：
3.5
作者：
Ferguson, Kyle A.;Wong, Edgar Chan;Ma, Sai
通讯作者：
Ma, Sai
影响因子：
30.8
作者：
Jeffreys, AJ;Neumann, R
通讯作者：
Neumann, R
影响因子：
4
作者：
Downie, SE;Flaherty, SP;Matthews, CD
通讯作者：
Matthews, CD
影响因子：
30.8
作者：
Jeffreys, AJ;May, CA
通讯作者：
May, CA