<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">McCoy, Rajiv C</style></author><author><style face="normal" font="default" size="100%">Demko, Zachary</style></author><author><style face="normal" font="default" size="100%">Ryan, Allison</style></author><author><style face="normal" font="default" size="100%">Banjevic, Milena</style></author><author><style face="normal" font="default" size="100%">Hill, Matthew</style></author><author><style face="normal" font="default" size="100%">Sigurjonsson, Styrmir</style></author><author><style face="normal" font="default" size="100%">Rabinowitz, Matthew</style></author><author><style face="normal" font="default" size="100%">Fraser, Hunter B</style></author><author><style face="normal" font="default" size="100%">Petrov, Dmitri A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Aneuploidy</style></keyword><keyword><style  face="normal" font="default" size="100%">Blastomeres</style></keyword><keyword><style  face="normal" font="default" size="100%">Embryo, Mammalian</style></keyword><keyword><style  face="normal" font="default" size="100%">Embryonic Development</style></keyword><keyword><style  face="normal" font="default" size="100%">Fathers</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Fertilization in Vitro</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Testing</style></keyword><keyword><style  face="normal" font="default" size="100%">Haplotypes</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mitosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Mothers</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein-Serine-Threonine Kinases</style></keyword><keyword><style  face="normal" font="default" size="100%">Selection, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Trophoblasts</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Apr 10</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25859044</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">348</style></volume><pages><style face="normal" font="default" size="100%">235-8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6231</style></issue><notes><style face="normal" font="default" size="100%">http://www.sciencemag.org/content/348/6231/235.short</style></notes><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25859044?dopt=Abstract</style></custom1></record></records></xml>