Mammalian pre-implantation chromosomal instability: Species comparison, evolutionary considerations, and pathological correlations

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)321-335
Number of pages15
JournalSystems Biology in Reproductive Medicine
Volume61
Issue number6
DOIs
StatePublished - Nov 2 2015

Fingerprint

Chromosomal Instability
Embryonic Development
Embryonic Structures
Germ Cells
Mammals
Time-Lapse Imaging
Reproductive Medicine
Human Development
Fertilization in Vitro
Fertilization
Epigenomics
Chromosome Aberrations
Cell Division
Transcriptional Activation
Mothers
Pathology
Research
Neoplasms

Keywords

  • Aneuploidy
  • cancer
  • chromothripsis
  • embryo
  • evolution
  • fragmentation
  • IVF
  • micronuclei
  • preimplantation

ASJC Scopus subject areas

  • Reproductive Medicine
  • Urology

Cite this

@article{9f4c167301cf435cac4d7d1f71932356,
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.",
keywords = "Aneuploidy, cancer, chromothripsis, embryo, evolution, fragmentation, IVF, micronuclei, preimplantation",
author = "Lucia Carbone and Shawn Chavez",
year = "2015",
month = "11",
day = "2",
doi = "10.3109/19396368.2015.1073406",
language = "English (US)",
volume = "61",
pages = "321--335",
journal = "Systems Biology in Reproductive Medicine",
issn = "1939-6368",
publisher = "Informa Healthcare",
number = "6",

}

TY - JOUR

T1 - Mammalian pre-implantation chromosomal instability

T2 - Species comparison, evolutionary considerations, and pathological correlations

AU - Carbone, Lucia

AU - Chavez, Shawn

PY - 2015/11/2

Y1 - 2015/11/2

N2 - 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.

AB - 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.

KW - Aneuploidy

KW - cancer

KW - chromothripsis

KW - embryo

KW - evolution

KW - fragmentation

KW - IVF

KW - micronuclei

KW - preimplantation

UR - http://www.scopus.com/inward/record.url?scp=84947494058&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84947494058&partnerID=8YFLogxK

U2 - 10.3109/19396368.2015.1073406

DO - 10.3109/19396368.2015.1073406

M3 - Article

C2 - 26366555

AN - SCOPUS:84947494058

VL - 61

SP - 321

EP - 335

JO - Systems Biology in Reproductive Medicine

JF - Systems Biology in Reproductive Medicine

SN - 1939-6368

IS - 6

ER -