Replication stress impairs chromosome segregation and preimplantation development in human embryos

DNA replication fork speed underlies cell fate changes and promotes reprogramming

(2022) Tsunetoshi Nakatani et al.   NATURE GENETICS

DNA replication is highly resilient and persistent under the challenge of mild replication stress

(2022) Camelia Mocanu et al.   Cell Reports

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

(2021) Rachel E. Rodin et al.   NATURE NEUROSCIENCE

Inherent mosaicism and extensive mutation of human placentas

(2021) Tim H. H. Coorens et al.   NATURE

Phosphorylation state of the histone variant H2A.X controls human stem and progenitor cell fate decisions

(2021) Luca Orlando et al.   Cell Reports

Twelve years of SAMtools and BCFtools

(2021) Petr Danecek et al.   GigaScience

Parental genome unification is highly error-prone in mammalian embryos

(2021) Tommaso Cavazza et al.   CELL

Increased Neural Progenitor Proliferation in a hiPSC Model of Autism Induces Replication Stress-Associated Genome Instability

(2020) Meiyan Wang et al.   Cell Stem Cell

Physiological Tolerance to ssDNA Enables Strand Uncoupling during DNA Replication

(2020) Amaia Ercilla et al.   Cell Reports

Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos

(2020) Laura Girardi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide high-resolution mapping of mitotic DNA synthesis sites and common fragile sites by direct sequencing

(2020) Fang Ji et al.   CELL RESEARCH

High-resolution mapping of mitotic DNA synthesis regions and common fragile sites in the human genome through direct sequencing

(2020) Morgane Macheret et al.   CELL RESEARCH

New insights into abasic site repair and tolerance

(2020) Petria S. Thompson et al.   DNA REPAIR

3D genome organization contributes to genome instability at fragile sites

(2020) Dan Sarni et al.   Nature Communications

Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

(2020) Michael V. Zuccaro et al.   CELL

PrimPol-dependent single-stranded gap formation mediates homologous recombination at bulky DNA adducts

(2020) Ann Liza Piberger et al.   Nature Communications

Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability

(2019) Xiaofei Cheng et al.   Molecular Cytogenetics

Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview

(2019) María-José Escribà et al.   Reproductive Biology and Endocrinology

Chromosome errors in human eggs shape natural fertility over reproductive life span

(2019) Jennifer R. Gruhn et al.   SCIENCE

Transcription-mediated organization of the replication initiation program across large genes sets common fragile sites genome-wide

(2019) Olivier Brison et al.   Nature Communications

Low estradiol responses in oocyte donors undergoing gonadotropin stimulation do not influence clinical outcomes

(2018) Katherine L. Palmerola et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Compensating human subjects providing oocytes for stem cell research: 9-year experience and outcomes

(2018) L. Zakarin Safier et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Computational correction of index switching in multiplexed sequencing libraries

(2018) Anton J M Larsson et al.   NATURE METHODS

High speed of fork progression induces DNA replication stress and genomic instability

(2018) Apolinar Maya-Mendoza et al.   NATURE

Prevalence and authenticity of de-novo segmental aneuploidy (>16 Mb) in human blastocysts as detected by next-generation sequencing

(2018) Shuang Zhou et al.   REPRODUCTIVE BIOMEDICINE ONLINE

The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos

(2017) D Babariya et al.   HUMAN REPRODUCTION

Focused time-lapse analysis reveals novel aspects of human fertilization and suggests new parameters of embryo viability

(2017) G Coticchio et al.   HUMAN REPRODUCTION

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Genomic instability during reprogramming by nuclear transfer is DNA replication dependent

(2017) Gloryn Chia et al.   NATURE CELL BIOLOGY

BRCA2 suppresses replication stress-induced mitotic and G1 abnormalities through homologous recombination

(2017) Weiran Feng et al.   Nature Communications

Replication fork slowing and stalling are distinct, checkpoint-independent consequences of replicating damaged DNA

(2017) Divya Ramalingam Iyer et al.   PLoS Genetics

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

(2017) Keiko Shimojima et al.   CONGENITAL ANOMALIES

Genome Transfer Prevents Fragmentation and Restores Developmental Potential of Developmentally Compromised Postovulatory Aged Mouse Oocytes

(2017) Mitsutoshi Yamada et al.   Stem Cell Reports

Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro

(2017) Christian S. Ottolini et al.   Scientific Reports

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

A Mechanism for Controlled Breakage of Under-replicated Chromosomes during Mitosis

(2016) Heike Duda et al.   DEVELOPMENTAL CELL

Unreplicated DNA remaining from unperturbed S phases passes through mitosis for resolution in daughter cells

(2016) Alberto Moreno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A short G1 phase imposes constitutive replication stress and fork remodelling in mouse embryonic stem cells

(2016) Akshay K. Ahuja et al.   Nature Communications

Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential

(2016) Helen Bolton et al.   Nature Communications

Optimizing sparse sequencing of single cells for highly multiplex copy number profiling

(2015) Timour Baslan et al.   GENOME RESEARCH

Rad51-mediated replication fork reversal is a global response to genotoxic treatments in human cells

(2015) Ralph Zellweger et al.   JOURNAL OF CELL BIOLOGY

A clinically useful simplified blastocyst grading system

(2015) Alison Richardson et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis

(2015) Maria Vera-Rodriguez et al.   Nature Communications

Large transcription units unify copy number variants and common fragile sites arising under replication stress

(2014) Thomas E. Wilson et al.   GENOME RESEARCH

DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly

(2014) Ilari Scheinin et al.   GENOME RESEARCH

The DNA methylation landscape of human early embryos

(2014) Hongshan Guo et al.   NATURE

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

(2014) Stefania Gimelli et al.   Molecular Cytogenetics

Human Embryonic Stem Cells Derived by Somatic Cell Nuclear Transfer

(2013) Masahito Tachibana et al.   CELL

How unfinished business from S-phase affects mitosis and beyond

(2013) Hocine W Mankouri et al.   EMBO JOURNAL

The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening

(2013) Jason M. Franasiak et al.   FERTILITY AND STERILITY

Characterization and preclinical development of LY2603618: a selective and potent Chk1 inhibitor

(2013) Constance King et al.   INVESTIGATIONAL NEW DRUGS

DNA Double-Strand Break Repair Pathway Choice Is Directed by Distinct MRE11 Nuclease Activities

(2013) Atsushi Shibata et al.   MOLECULAR CELL

Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing

(2013) Zhigang Xue et al.   NATURE

Replication stress links structural and numerical cancer chromosomal instability

(2013) Rebecca A. Burrell et al.   NATURE

Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells

(2013) Liying Yan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Spontaneous slow replication fork progression elicits mitosis alterations in homologous recombination-deficient mammalian cells

(2013) T. Wilhelm et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The human first cell cycle: impact on implantation

(2013) Jesús Aguilar et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Cleavage speed and implantation potential of early-cleavage embryos in IVF or ICSI cycles

(2012) Meng-Ju Lee et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Genome-wide copy number analysis of single cells

(2012) Timour Baslan et al.   Nature Protocols

Distinct roles for DNA-PK, ATM and ATR in RPA phosphorylation and checkpoint activation in response to replication stress

(2012) S. Liu et al.   NUCLEIC ACIDS RESEARCH

Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage

(2012) Shawn L. Chavez et al.   Nature Communications

Nucleotide Deficiency Promotes Genomic Instability in Early Stages of Cancer Development

(2011) Assaf C. Bester et al.   CELL

Factors determining DNA double-strand break repair pathway choice in G2 phase

(2011) Atsushi Shibata et al.   EMBO JOURNAL

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

(2011) M.D. Perrone et al.   European Journal of Medical Genetics

Replication stress induces 53BP1-containing OPT domains in G1 cells

(2011) Jeanine A. Harrigan et al.   JOURNAL OF CELL BIOLOGY

Discovery of Potent and Selective Inhibitors of Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Protein Kinase as Potential Anticancer Agents

(2011) Jean-Damien Charrier et al.   JOURNAL OF MEDICINAL CHEMISTRY

Collisions between Replication and Transcription Complexes Cause Common Fragile Site Instability at the Longest Human Genes

(2011) Anne Helmrich et al.   MOLECULAR CELL

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Cell-type-specific replication initiation programs set fragility of the FRA3B fragile site

(2011) Anne Letessier et al.   NATURE

53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress

(2011) Claudia Lukas et al.   NATURE CELL BIOLOGY

DNA-PK-Dependent RPA2 Hyperphosphorylation Facilitates DNA Repair and Suppresses Sister Chromatid Exchange

(2011) Hungjiun Liaw et al.   PLoS One

Reprogramming within hours following nuclear transfer into mouse but not human zygotes

(2011) Dieter Egli et al.   Nature Communications

Genomic Instability, Defective Spermatogenesis, Immunodeficiency, and Cancer in a Mouse Model of the RIDDLE Syndrome

(2011) Toshiyuki Bohgaki et al.   PLoS Genetics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Effect of Trichostatin A on Chromatin Remodeling, Histone Modifications, DNA Replication, and Transcriptional Activity in Cloned Mouse Embryos1

(2010) Hong-Thuy Bui et al.   BIOLOGY OF REPRODUCTION

Dynamic link of DNA demethylation, DNA strand breaks and repair in mouse zygotes

(2010) Mark Wossidlo et al.   EMBO JOURNAL

Standardization of grading embryo morphology

(2010) Catherine Racowsky et al.   FERTILITY AND STERILITY

Sperm DNA damage measured by the alkaline Comet assay as an independent predictor of male infertility and in vitro fertilization success

(2010) Luke Simon et al.   FERTILITY AND STERILITY

Rewirable gene regulatory networks in the preimplantation embryonic development of three mammalian species

(2010) D. Xie et al.   GENOME RESEARCH

Genome-wide microarray evidence that 8-cell human blastomeres over-express cell cycle drivers and under-express checkpoints

(2010) Ann A. Kiessling et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Hydroxyurea-Stalled Replication Forks Become Progressively Inactivated and Require Two Different RAD51-Mediated Pathways for Restart and Repair

(2010) Eva Petermann et al.   MOLECULAR CELL

Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage

(2010) Connie C Wong et al.   NATURE BIOTECHNOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

RNF168 Binds and Amplifies Ubiquitin Conjugates on Damaged Chromosomes to Allow Accumulation of Repair Proteins

(2009) Carsten Doil et al.   CELL

Human RPA phosphorylation by ATR stimulates DNA synthesis and prevents ssDNA accumulation during DNA-replication stress

(2009) V. M. Vassin et al.   JOURNAL OF CELL SCIENCE

Small-molecule inhibition of Wee1 kinase by MK-1775 selectively sensitizes p53-deficient tumor cells to DNA-damaging agents

(2009) H. Hirai et al.   MOLECULAR CANCER THERAPEUTICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

AZD7762, a novel checkpoint kinase inhibitor, drives checkpoint abrogation and potentiates DNA-targeted therapies

(2008) S. D. Zabludoff et al.   MOLECULAR CANCER THERAPEUTICS

A forward chemical genetic screen reveals an inhibitor of the Mre11–Rad50–Nbs1 complex

(2008) Aude Dupré et al.   Nature Chemical Biology