title: Mammalian pre-implantation chromosomal instability: species comparison, evolutionary considerations, and pathological correlations.
abstract: Pre-implantation embryo development in mammals begins at fertilization with the migration and fusion of the maternal and paternal pro-nuclei, followed by the degradation of inherited factors involved in germ cell specification and the activation of embryonic genes required for subsequent cell divisions, compaction, and blastulation. The majority of studies on early embryogenesis have been conducted in the mouse or non-mammalian species, often requiring extrapolation of the findings to human development. Given both conserved similarities and species-specific differences, however, even comparison between closely related mammalian species may be challenging as certain aspects, including susceptibility to chromosomal aberrations, varies considerably across mammals. Moreover, most human embryo studies are limited to patient samples obtained from in vitro fertilization (IVF) clinics and donated for research, which are generally of poorer quality and produced with germ cells that may be sub-optimal. Recent technical advances in genetic, epigenetic, chromosomal, and time-lapse imaging analyses of high quality whole human embryos have greatly improved our understanding of early human embryogenesis, particularly at the single embryo and cell level. This review summarizes the major characteristics of mammalian pre-implantation development from a chromosomal perspective, in addition to discussing the technological achievements that have recently been developed to obtain this data. We also discuss potential translation to clinical applications in reproductive medicine and conclude by examining the broader implications of these findings for the evolution of mammalian species and cancer pathology in somatic cells.
authors.affiliation: a Division of Neuroscience , Oregon National Primate Research Center .|b Department of Behavioral Neuroscience .|c Department of Molecular & Medical Genetics .|d Bioinformatics & Computational Biology, Oregon Health & Science University .
authors.forename: Lucia
authors.initials: L
authors.lastname: Carbone
authors.affiliation: e Division of Reproductive & Developmental Sciences , Oregon National Primate Research Center .|f Department of Obstetrics & Gynecology , and.|g Department of Physiology & Pharmacology , Oregon Health & Science University , Portland , Oregon , USA.
authors.forename: Shawn L
authors.initials: SL
authors.lastname: Chavez
mesh_terms: D000782:Aneuploidy; D000818:Animals; D005075:Biological Evolution; D043171:Chromosomal Instability; D047108:Embryonic Development; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D027724:Reproductive Techniques, Assisted
keywords: Aneuploidy; IVF; cancer; chromothripsis; embryo; evolution; fragmentation; micronuclei; preimplantation