Volume 25 Issue 11, November 2019

Volume 25 Issue 11

Stable genomes follow in vitro fertilization

Chromosomal instability is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization. In this issue, Andres Salumets and colleagues find that these chromosomal changes are not preserved at later stages of prenatal development, and therefore the rates of de novo numerical aberrations or large structural DNA imbalances are similar between IVF and naturally conceived live-born neonates.

See: Salumets and colleagues

Image credit: Masoud Zamani Esteki (concept), Bram de Jong (design). Cover design: Erin Dewalt

Editorial

News

News Feature

Correspondence

Comment

  • Comment |

    Cardiometabolic disease is the leading cause of death and disability in the world, driven in part by the rise in unhealthy diets, poor air quality and other byproducts of economic development. A new economic model is needed, one that places people rather than profits at its center.

    • Johanna Ralston
    •  & Rachel Nugent

Research Highlights

News & Views

Turning Points

  • Turning Points |

    Sergiu Pașca is a faculty member at Stanford University, where he is also the Uytengsu Director of the Stanford Brain Organogenesis Program. He is a pioneer in developing 3D brain-region-specific organoids, assembloids and cellular models of neuropsychiatric disease from stem cells.

    • Sergiu P. Pașca

Review Articles

Brief Communications

  • Brief Communication |

    A unique case from the Colombian cohort of autosomal dominant Alzheimer’s disease is reported in which disease progression is substantially delayed despite unusually high amyloid plaque pathology, possibly related to a rare mutation in APOE3.

    • Joseph F. Arboleda-Velasquez
    • , Francisco Lopera
    • , Michael O’Hare
    • , Santiago Delgado-Tirado
    • , Claudia Marino
    • , Natalia Chmielewska
    • , Kahira L. Saez-Torres
    • , Dhanesh Amarnani
    • , Aaron P. Schultz
    • , Reisa A. Sperling
    • , David Leyton-Cifuentes
    • , Kewei Chen
    • , Ana Baena
    • , David Aguillon
    • , Silvia Rios-Romenets
    • , Margarita Giraldo
    • , Edmarie Guzmán-Vélez
    • , Daniel J. Norton
    • , Enmanuelle Pardilla-Delgado
    • , Arabiye Artola
    • , Justin S. Sanchez
    • , Juliana Acosta-Uribe
    • , Matthew Lalli
    • , Kenneth S. Kosik
    • , Matthew J. Huentelman
    • , Henrik Zetterberg
    • , Kaj Blennow
    • , Rebecca A. Reiman
    • , Ji Luo
    • , Yinghua Chen
    • , Pradeep Thiyyagura
    • , Yi Su
    • , Gyungah R. Jun
    • , Marcus Naymik
    • , Xiaowu Gai
    • , Moiz Bootwalla
    • , Jianling Ji
    • , Lishuang Shen
    • , John B. Miller
    • , Leo A. Kim
    • , Pierre N. Tariot
    • , Keith A. Johnson
    • , Eric M. Reiman
    •  & Yakeel T. Quiroz

Letters

  • Letter |

    Neurological phenotypes of PTEN loss are driven by aberrant mTORC2 signaling, and therapeutic inhibition of the mTORC2 component Rictor by antisense oligonucleotides reverses seizures, social interaction deficits and memory impairments in rodents.

    • Chien-Ju Chen
    • , Martina Sgritta
    • , Jacqunae Mays
    • , Hongyi Zhou
    • , Rocco Lucero
    • , Jin Park
    • , I-Ching Wang
    • , Jun Hyoung Park
    • , Benny Abraham Kaipparettu
    • , Loredana Stoica
    • , Paymaan Jafar-Nejad
    • , Frank Rigo
    • , Jeannie Chin
    • , Jeffrey L. Noebels
    •  & Mauro Costa-Mattioli
  • Letter |

    Pluripotent stem cells can generate functional lungs when injected into blastocyst-stage mouse embryos, a step toward the goal of growing human lungs in large animals for disease modeling and therapeutic applications.

    • Munemasa Mori
    • , Kazuhiro Furuhashi
    • , Jennifer A. Danielsson
    • , Yuichi Hirata
    • , Miwako Kakiuchi
    • , Chyuan-Sheng Lin
    • , Mayu Ohta
    • , Paul Riccio
    • , Yusuke Takahashi
    • , Xinjing Xu
    • , Charles W. Emala
    • , Chao Lu
    • , Hiromitsu Nakauchi
    •  & Wellington V. Cardoso
  • Letter |

    Characterization of the genomic landscape of fetal and placental postpartum tissues shows that chromosomal instability associated with in vitro fertilization (IVF) is not preserved at later stages of prenatal development. Thus rates of de novo numerical aberrations or large structural DNA imbalances are similar between IVF and naturally conceived live-born neonates.

    • Masoud Zamani Esteki
    • , Triin Viltrop
    • , Olga Tšuiko
    • , Airi Tiirats
    • , Mariann Koel
    • , Margit Nõukas
    • , Olga Žilina
    • , Katre Teearu
    • , Heidi Marjonen
    • , Hanna Kahila
    • , Jeroen Meekels
    • , Viveca Söderström-Anttila
    • , Anne-Maria Suikkari
    • , Aila Tiitinen
    • , Reedik Mägi
    • , Sulev Kõks
    • , Nina Kaminen-Ahola
    • , Ants Kurg
    • , Thierry Voet
    • , Joris Robert Vermeesch
    •  & Andres Salumets
  • Letter |

    A single-arm multicenter phase 2 trial demonstrates clinical efficacy of neoadjuvant PD-L1 blockade in patients with resectable muscle-invasive bladder cancer ineligible for cisplatin and examines biomarkers associated with patient outcome.

    • Thomas Powles
    • , Mark Kockx
    • , Alejo Rodriguez-Vida
    • , Ignacio Duran
    • , Simon J. Crabb
    • , Michiel S. Van Der Heijden
    • , Bernadett Szabados
    • , Albert Font Pous
    • , Gwenaelle Gravis
    • , Urbano Anido Herranz
    • , Andrew Protheroe
    • , Alain Ravaud
    • , Denis Maillet
    • , Maria Jose Mendez
    • , Cristina Suarez
    • , Mark Linch
    • , Aaron Prendergast
    • , Pieter-Jan van Dam
    • , Diana Stanoeva
    • , Sofie Daelemans
    • , Sanjeev Mariathasan
    • , Joy S. Tea
    • , Kelly Mousa
    • , Romain Banchereau
    •  & Daniel Castellano
  • Letter |

    The degree of sequence divergence between patient MHC class I alleles influences the response to immune checkpoint blockade therapy independently of tumor mutational burden.

    • Diego Chowell
    • , Chirag Krishna
    • , Federica Pierini
    • , Vladimir Makarov
    • , Naiyer A. Rizvi
    • , Fengshen Kuo
    • , Luc G. T. Morris
    • , Nadeem Riaz
    • , Tobias L. Lenz
    •  & Timothy A. Chan
  • Letter |

    Epigenetic regulators modulating chromatin accessibility dictate sensitivity to anthracycline-based therapy in early breast cancer and represent potential biomarkers for patient stratification.

    • Jose A. Seoane
    • , Jacob G. Kirkland
    • , Jennifer L. Caswell-Jin
    • , Gerald R. Crabtree
    •  & Christina Curtis
  • Letter |

    Large-scale sequencing of coding exons of MRAP2 in 9,418 adults and adolescents identifies loss-of-function mutations that are associated with monogenic obesity, hypertension and hyperglycemia.

    • Morgane Baron
    • , Julie Maillet
    • , Marlène Huyvaert
    • , Aurélie Dechaume
    • , Raphaël Boutry
    • , Hélène Loiselle
    • , Emmanuelle Durand
    • , Bénédicte Toussaint
    • , Emmanuel Vaillant
    • , Julien Philippe
    • , Jérémy Thomas
    • , Amjad Ghulam
    • , Sylvia Franc
    • , Guillaume Charpentier
    • , Jean-Michel Borys
    • , Claire Lévy-Marchal
    • , Maïthé Tauber
    • , Raphaël Scharfmann
    • , Jacques Weill
    • , Cécile Aubert
    • , Julie Kerr-Conte
    • , François Pattou
    • , Ronan Roussel
    • , Beverley Balkau
    • , Michel Marre
    • , Mathilde Boissel
    • , Mehdi Derhourhi
    • , Stefan Gaget
    • , Mickaël Canouil
    • , Philippe Froguel
    •  & Amélie Bonnefond
  • Letter |

    Targeting the adipokine adipsin and its downstream pathway may provide an approach for preservation of beta cell loss in type 2 diabetes.

    • Nicolás Gómez-Banoy
    • , J. Sawalla Guseh
    • , Ge Li
    • , Alfonso Rubio-Navarro
    • , Tong Chen
    • , BreAnne Poirier
    • , Gregory Putzel
    • , Carolina Rosselot
    • , Maria A. Pabón
    • , João Paulo Camporez
    • , Vijeta Bhambhani
    • , Shih-Jen Hwang
    • , Chen Yao
    • , Rachel J. Perry
    • , Sushmita Mukherjee
    • , Martin G. Larson
    • , Daniel Levy
    • , Lukas E. Dow
    • , Gerald I. Shulman
    • , Noah Dephoure
    • , Adolfo Garcia-Ocana
    • , Mingming Hao
    • , Bruce M. Spiegelman
    • , Jennifer E. Ho
    •  & James C. Lo
  • Letter |

    Antibodies in CSF specific for viral peptides implicate enteroviruses in acute flaccid myelitis.

    • Ryan D. Schubert
    • , Isobel A. Hawes
    • , Prashanth S. Ramachandran
    • , Akshaya Ramesh
    • , Emily D. Crawford
    • , John E. Pak
    • , Wesley Wu
    • , Carly K. Cheung
    • , Brian D. O’Donovan
    • , Cristina M. Tato
    • , Amy Lyden
    • , Michelle Tan
    • , Rene Sit
    • , Gavin A. Sowa
    • , Hannah A. Sample
    • , Kelsey C. Zorn
    • , Debarko Banerji
    • , Lillian M. Khan
    • , Riley Bove
    • , Stephen L. Hauser
    • , Amy A. Gelfand
    • , Bethany L. Johnson-Kerner
    • , Kendall Nash
    • , Kalpathy S. Krishnamoorthy
    • , Tanuja Chitnis
    • , Joy Z. Ding
    • , Hugh J. McMillan
    • , Charles Y. Chiu
    • , Benjamin Briggs
    • , Carol A. Glaser
    • , Cynthia Yen
    • , Victoria Chu
    • , Debra A. Wadford
    • , Samuel R. Dominguez
    • , Terry Fei Fan Ng
    • , Rachel L. Marine
    • , Adriana S. Lopez
    • , W. Allan Nix
    • , Ariane Soldatos
    • , Mark P. Gorman
    • , Leslie Benson
    • , Kevin Messacar
    • , Jennifer L. Konopka-Anstadt
    • , M. Steven Oberste
    • , Joseph L. DeRisi
    •  & Michael R. Wilson

Articles

  • Article |

    Analysis of data from over 400,000 UK Biobank participants shows that eGFR measured by cystatin C, but not serum creatinine, is strongly associated with cardiovascular disease outcomes and mortality.

    • Jennifer S. Lees
    • , Claire E. Welsh
    • , Carlos A. Celis-Morales
    • , Daniel Mackay
    • , James Lewsey
    • , Stuart R. Gray
    • , Donald M. Lyall
    • , John G. Cleland
    • , Jason M. R. Gill
    • , Pardeep S. Jhund
    • , Jill Pell
    • , Naveed Sattar
    • , Paul Welsh
    •  & Patrick B. Mark
  • Article |

    The beneficial effects of exercise on cardiovascular disease are linked to decreased inflammation through crosstalk between adipose tissue and hematopoietic progenitor cells in the bone marrow.

    • Vanessa Frodermann
    • , David Rohde
    • , Gabriel Courties
    • , Nicolas Severe
    • , Maximilian J. Schloss
    • , Hajera Amatullah
    • , Cameron S. McAlpine
    • , Sebastian Cremer
    • , Friedrich F. Hoyer
    • , Fei Ji
    • , Ian D. van Koeverden
    • , Fanny Herisson
    • , Lisa Honold
    • , Gustavo Santos Masson
    • , Shuang Zhang
    • , Jana Grune
    • , Yoshiko Iwamoto
    • , Stephen P. Schmidt
    • , Gregory R. Wojtkiewicz
    • , I-Hsiu Lee
    • , Karin Gustafsson
    • , Gerard Pasterkamp
    • , Saskia C. A. de Jager
    • , Ruslan I. Sadreyev
    • , Jean MacFadyen
    • , Peter Libby
    • , Paul Ridker
    • , David T. Scadden
    • , Kamila Naxerova
    • , Kate L. Jeffrey
    • , Filip K. Swirski
    •  & Matthias Nahrendorf
  • Article |

    Disrupting the normal maturation of the infant gut microbiota induced late-onset sepsis in mice, which could be prevented by administering specific bacteria.

    • Jeffrey R. Singer
    • , Emily G. Blosser
    • , Carlene L. Zindl
    • , Daniel J. Silberger
    • , Sean Conlan
    • , Vincent A. Laufer
    • , Daniel DiToro
    • , Clay Deming
    • , Ranjit Kumar
    • , Casey D. Morrow
    • , Julia A. Segre
    • , Michael J. Gray
    • , David A. Randolph
    •  & Casey T. Weaver
  • Article |

    A first-in-class engineered receptor decoy that neutralizes CLCF1–CNTFR signaling exhibits antitumor activity in preclinical models of lung adenocarcinoma driven by some mutant KRAS variants and other oncogenic genotypes.

    • Jun W. Kim
    • , Cesar P. Marquez
    • , Kaja Kostyrko
    • , Amanda L. Koehne
    • , Kieren Marini
    • , David R. Simpson
    • , Alex G. Lee
    • , Stanley G. Leung
    • , Leanne C. Sayles
    • , Joseph Shrager
    • , Irene Ferrer
    • , Luis Paz-Ares
    • , Melanie Hayden Gephart
    • , Silvestre Vicent
    • , Jennifer R. Cochran
    •  & E. Alejandro Sweet-Cordero

Amendments & Corrections