生物
非整倍体
遗传学
胚泡
胚胎
有丝分裂
染色体
染色体分离
基因
胚胎发生
作者
Rajiv C. McCoy,Zachary Demko,Allison Ryan,Milena Banjevic,Matthew D. Hill,Styrmir Sigurjonsson,Matthew Rabinowitz,Hunter B. Fraser,Dmitri A. Petrov
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2015-04-10
卷期号:348 (6231): 235-238
被引量:104
标识
DOI:10.1126/science.aaa3337
摘要
Aneuploidy, the inheritance of an atypical chromosome complement, is common in early human development and is the primary cause of pregnancy loss. By screening day-3 embryos during in vitro fertilization cycles, we identified an association between aneuploidy of putative mitotic origin and linked genetic variants on chromosome 4 of maternal genomes. This associated region contains a candidate gene, Polo-like kinase 4 (PLK4), that plays a well-characterized role in centriole duplication and has the ability to alter mitotic fidelity upon minor dysregulation. Mothers with the high-risk genotypes contributed fewer embryos for testing at day 5, suggesting that their embryos are less likely to survive to blastocyst formation. The associated region coincides with a signature of a selective sweep in ancient humans, suggesting that the causal variant was either the target of selection or hitchhiked to substantial frequency.
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