Chromosome engineering in zygotes with CRISPR/Cas9.
Chromosome engineering in zygotes with CRISPR/Cas9.
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DOI：
10.1002/dvg.22915
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发表时间：
2016-02
期刊：
影响因子：
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通讯作者：
Bradley A
中科院分区：
文献类型：
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作者：
Boroviak K;Doe B;Banerjee R;Yang F;Bradley A
覆盖几个基因的大基因组区域的缺失、重复和倒位是一类重要的人类致病变异。在小鼠中建模这些结构变体需要在ES细胞中进行多步处理，这限制了它们的可用性。含有小插入、缺失和单核苷酸多态性的突变小鼠可以直接在小鼠受精卵中使用CRISPR/Cas9可靠地产生。可以在ES细胞中使用CRISPR/Cas9产生大的结构变体，但不可能直接在受精卵中产生这些变体。我们现在证明了直接产生的缺失，复制和倒位多达一百万个碱基对受精卵注射。创世纪54：78-85，2016。© 2016作者。出版社：Wiley Periodicals，Inc.
Deletions, duplications, and inversions of large genomic regions covering several genes are an important class of disease causing variants in humans. Modeling these structural variants in mice requires multistep processes in ES cells, which has limited their availability. Mutant mice containing small insertions, deletions, and single nucleotide polymorphisms can be reliably generated using CRISPR/Cas9 directly in mouse zygotes. Large structural variants can be generated using CRISPR/Cas9 in ES cells, but it has not been possible to generate these directly in zygotes. We now demonstrate the direct generation of deletions, duplications and inversions of up to one million base pairs by zygote injection. genesis 54:78–85, 2016. © 2016 The Authors. genesis Published by Wiley Periodicals, Inc.