Chromosome abnormality articles within Nature Communications

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  • Article
    | Open Access

    Information on the occurrence of aneuploidies in prehistory human populations are rare. Here, from a large screen of ancient human genomes and osteological examination, the authors find genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome) in historic and prehistoric infants.

    • Adam Benjamin Rohrlach
    • , Maïté Rivollat
    •  & Kay Prüfer

  • Article
    | Open Access

    It is still a challenge to accurately identify off-target endonuclease edits. Here the authors report PEAC-seq using a Prime Editor to insert a tag to the editing sites and enrich the tagged regions with site-specific primers for sequencing: they show that PEAC-seq could identify DNA translocations.

    • Zhenxing Yu
    • , Zhike Lu
    •  & Lijia Ma

  • Article
    | Open Access

    Aneuploidy (abnormal chromosome number) can enable rapid adaptation to stress conditions, but it also entails fitness costs from gene imbalance. Here, the authors experimentally evolve yeast while forcing maintenance of aneuploidy to identify the mechanisms that promote tolerance of aneuploidy.

    • Alaattin Kaya
    • , Marco Mariotti
    •  & Vadim N. Gladyshev

  • Article
    | Open Access

    Down syndrome (DS) is caused by trisomy 21 (T21), but the underlying etiology of the related immune and neurological dysfunction is unclear. Here, the authors show that T21 activates the kynurenine pathway via increased interferon receptor copy number, which could contribute to DS pathophysiology.

    • Rani K. Powers
    • , Rachel Culp-Hill
    •  & Joaquin M. Espinosa

  • Article
    | Open Access

    Mosaic loss of chromosome Y (mLOY) is associated with age and smoking but also genetic factors play a role. Here, Terao et al. perform GWAS for mLOY in 95,380 Japanese men and identify 46 loci that overlap with hematopoietic stem cell enhancers and transcription factor binding sites critical for hematopoiesis.

    • Chikashi Terao
    • , Yukihide Momozawa
    •  & Yoichiro Kamatani

  • Article
    | Open Access

    Transient aneuploidy enables cells to survive sudden environmental changes before longterm cellular adaptations are established. Here, the authors show that yeast cells respond to the acute loss of Ulp2 SUMO protease by rapid induction of aneuploidy, and reveal predictable long-term adaptation mechanisms that restore euploidy.

    • Hong-Yeoul Ryu
    • , Francesc López-Giráldez
    •  & Mark Hochstrasser

  • Article
    | Open Access

    Trisomy 21 (T21) is a major cause of Down syndrome but little is known about its impact on the cellular proteome. Here, the authors define the proteome of T21 fibroblasts and its turnover and also map proteomic differences in monozygotic T21-discordant twins, revealing extensive, organelle-specific changes caused by T21.

    • Yansheng Liu
    • , Christelle Borel
    •  & Ruedi Aebersold

  • Article
    | Open Access

    Chromosomal aberrations can be detected by global gene expression analysis. Here, the authors report eSNP-Karyotyping, a new method that can detect chromosomal aberrations by measuring the ratio of expression between the two alleles without comparison to a matched diploid sample.

    • Uri Weissbein
    • , Maya Schachter
    •  & Nissim Benvenisty

  • Article
    | Open Access

    Genetically engineered mouse models of cancer are useful in identifying oncogenes and tumour suppressors. Here, the authors use gene expression profiles to generate a catalogue of copy number aberrations in 45 mouse models, and compare mouse and human tumours to identify additional drivers of tumorigenesis.

    • Uri Ben-David
    • , Gavin Ha
    •  & Todd R. Golub

  • Article
    | Open Access

    The developmental potential of mosaic embryos of euploid and aneuploid cells is unknown. Here, the authors create a mouse model of chromosome mosaicism, showing that aneuploid cells in the fetus are eliminated by apoptosis and developmental potential is dependent on the presence of sufficient euploid cells.

    • Helen Bolton
    • , Sarah J. L. Graham
    •  & Magdalena Zernicka-Goetz

  • Article
    | Open Access

    One of the hallmarks of cancer cells is aneuploidy, however the molecular effects are poorly understood. Here the authors show that trisomic and tetrasomic cells display increased genomic instability and reduced levels of the helicase MCM2-7.

    • Verena Passerini
    • , Efrat Ozeri-Galai
    •  & Zuzana Storchová

  • Article
    | Open Access

    Sotos syndrome is an growth syndrome characterized by advanced growth in childhood, characteristic facial appearance and intellectual disability. Here the authors identify a genome-wide DNA methylation signature that accurately diagnoses Sotos Syndrome and distinguishes it from similar conditions.

    • S. Choufani
    • , C. Cytrynbaum
    •  & R. Weksberg

  • Article
    | Open Access

    Protein fusions between MLL and AEP (AF4 family/ENL family/P-TEFb) constitutively activate their target genes to immortalize hematopoietic progenitors. Here, Okuda et al. show that MLL-AEP binds SL1, a component of the pre-initiation complex of RNA polymerase (RNAP) I, to initiate RNAP II dependent transcription.

    • Hiroshi Okuda
    • , Akinori Kanai
    •  & Akihiko Yokoyama

  • Article
    | Open Access

    It is unclear why certain tissues are more susceptible to the consequences of aneuploidy. Here, in Drosophila, Gogendeau et al.identify aneuploidy as the cause of lengthened G1 and premature differentiation in both neural and adult intestinal stem cells, which prevents cells with abnormal genomes from cycling.

    • Delphine Gogendeau
    • , Katarzyna Siudeja
    •  & Renata Basto

  • Article
    | Open Access

    Barriers to DNA replication are potent sources of genome instability. Here, the authors provide a mechanistic model for how a single persistent G-quadruplex structure generates multiple substrates for polymerase theta-mediated end-joining, thus causing multiple deletions during animal development.

    • Bennie Lemmens
    • , Robin van Schendel
    •  & Marcel Tijsterman

  • Article
    | Open Access

    The loss of telomeres is a catastrophic event and eukaryotes have evolved multiple strategies to overcome this. Here the authors show that Saccharomyces cerevisiaecan generate aneuploid survivors that upregulate telomerase to overcome telomere loss.

    • Caroline Millet
    • , Darya Ausiannikava
    •  & Svetlana Makovets

  • Article
    | Open Access

    The question of whether recombination rate increases with maternal age is controversial, with conflicting prior evidence. Here, Martin et al.analyse nine cohorts in the largest SNP-based analysis of this question and find a small positive increase with maternal age in the number of crossovers.

    • Hilary C. Martin
    • , Ryan Christ
    •  & Peter Donnelly

  • Article
    | Open Access

    Aneuploidy may be fatal for the embryo, hence predicting its occurrence is important for successfulin vitrofertilization. Here the authors monitor development of human preimplantation embryos in real-time and correlate the blastomere ploidy with cleavage dynamics and gene expression, identifying 12-transcript signature that determines ploidy.

    • Maria Vera-Rodriguez
    • , Shawn L. Chavez
    •  & Carlos Simon

  • Article
    | Open Access

    CENP-E regulates chromosome alignment during mitosis to distribute chromosomes equally into daughter cells. Here, the authors show that CENP-E inhibition causes p53-mediated post-mitotic apoptosis in tumours where the spindle assembly checkpoint is compromised, suggesting that CENP-E is a therapeutic target for these cancers.

    • Akihiro Ohashi
    • , Momoko Ohori
    •  & Kentaro Iwata

  • Article
    | Open Access

    As oocytes age the frequency of chromosome segregation errors during meiosis I increases. Here the authors use live imaging of oocytes from naturally aged mice to provide direct evidence that bivalent separation into univalents is the primary defect responsible for age-related aneuploidy.

    • Yogo Sakakibara
    • , Shu Hashimoto
    •  & Tomoya S. Kitajima

  • Article |

    Ionizing radiations (IRs) cause widespread genomic damage and can, through unknown mechanisms, lead to changes in chromosome numbers by perturbing the cells undergoing mitosis. Here, the authors investigate the potential mechanism behind the increased susceptibility of mitotic cells to IRs.

    • Samuel F. Bakhoum
    • , Lilian Kabeche
    •  & Duane A. Compton

  • Article |

    Trisomy 12 is the most frequent chromosomal abnormality detected in cultures of human pluripotent stem cells. Here the authors show that human pluripotent stem cells carrying this abnormality exhibit gene expression profiles more similar to those of germ cell tumours, and give rise to more aggressive teratomas.

    • Uri Ben-David
    • , Gal Arad
    •  & Juan Carlos Biancotti

  • Article |

    Chromosome mis-segregation is a frequent occurrence in meiosis. Here the authors show that single unpaired chromatids avoid the spindle assembly checkpoint in the second meiotic division as they form bi-directional microtubule–kinetochore attachments, which leads to the completion of meiosis and the establishment of aneuploidy.

    • Anna Kouznetsova
    • , Abrahan Hernández-Hernández
    •  & Christer Höög

  • Article |

    De novocopy number variations are known to occur in somatic cell populations and pluripotent stem cells. Here the authors use single-cell array comparative genomic hybridization to identify copy number variations in individual human somatic and embryonic stem cells.

    • Kurt Jacobs
    • , Afroditi Mertzanidou
    •  & Claudia Spits

  • Article |

    Palindromic DNA sequences in the genome can cause gross chromosomal rearrangements. Inagaki et al.demonstrate how the pathways of Holliday-junction resolution and antigen-receptor gene rearrangement interact to process cruciform conformation of palindrome DNA into chromosomal translocations in human embryonic kidney cells.

    • Hidehito Inagaki
    • , Tamae Ohye
    •  & Hiroki Kurahashi

  • Article
    | Open Access

    Abnormal human embryo development is implicated in the embryo arrest observed during in vitrofertilization. Chavez and colleagues perform time-lapse imaging on human embryos and find that chromosomally abnormal embryos exhibit diverse cell cycle parameters that may contribute to arrest.

    • Shawn L. Chavez
    • , Kevin E. Loewke
    •  & Renee A. Reijo Pera

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