@article {308519,
	title = {Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos.},
	journal = {Science},
	volume = {348},
	year = {2015},
	note = {http://www.sciencemag.org/content/348/6231/235.short},
	month = {2015 Apr 10},
	pages = {235-8},
	abstract = {<p>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.</p>},
	keywords = {Alleles, Aneuploidy, Blastomeres, Embryo, Mammalian, Embryonic Development, Fathers, Female, Fertilization in Vitro, Genetic Association Studies, Genetic Testing, Haplotypes, Humans, Male, Mitosis, Mothers, Phenotype, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, Selection, Genetic, Trophoblasts},
	issn = {1095-9203},
	doi = {10.1126/science.aaa3337},
	url = {http://www.ncbi.nlm.nih.gov/pubmed/25859044},
	author = {McCoy, Rajiv C and Demko, Zachary and Ryan, Allison and Banjevic, Milena and Hill, Matthew and Sigurjonsson, Styrmir and Rabinowitz, Matthew and Fraser, Hunter B and Petrov, Dmitri A}
}
