Mosaicism

Definition

Mosaicism is the occurrence in an organism of two or more genetically distinct cell populations derived from the same individual. In human genetics, the consequences of aneuploidy or gene mutation can be less severe if the affected individual also contains some normal cells.

Latest Research and Reviews

  • Reviews |

    Single-cell genome sequencing can provide detailed insights into the composition of single genomes that are not readily apparent when studying bulk cell populations. This Review discusses the considerable technical challenges of amplifying and interrogating genomes from single cells, emerging innovative solutions and various applications in microbiology and human disease, in particular in cancer.

    • Charles Gawad
    • , Winston Koh
    •  & Stephen R. Quake
  • Reviews |

    Somatic genetic mosaicism has been demonstrated in many tissues, leading to interactions between functionally diverse cell populations that could contribute to homeostasis ('clonal health') or influence disease states. These authors argue that embryonic somatic mosaicism can contribute to adult cancers.

    • Luis C. Fernández
    • , Miguel Torres
    •  & Francisco X. Real
  • Research | | open

    It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk

    • Mitchell J. Machiela
    • , Weiyin Zhou
    • , Eric Karlins
    • , Joshua N. Sampson
    • , Neal D. Freedman
    • , Qi Yang
    • , Belynda Hicks
    • , Casey Dagnall
    • , Christopher Hautman
    • , Kevin B. Jacobs
    • , Christian C. Abnet
    • , Melinda C. Aldrich
    • , Christopher Amos
    • , Laufey T. Amundadottir
    • , Alan A. Arslan
    • , Laura E. Beane-Freeman
    • , Sonja I. Berndt
    • , Amanda Black
    • , William J. Blot
    • , Cathryn H. Bock
    • , Paige M. Bracci
    • , Louise A. Brinton
    • , H Bas Bueno-de-Mesquita
    • , Laurie Burdett
    • , Julie E. Buring
    • , Mary A. Butler
    • , Federico Canzian
    • , Tania Carreón
    • , Kari G. Chaffee
    • , I-Shou Chang
    • , Nilanjan Chatterjee
    • , Chu Chen
    • , Constance Chen
    • , Kexin Chen
    • , Charles C. Chung
    • , Linda S. Cook
    • , Marta Crous Bou
    • , Michael Cullen
    • , Faith G. Davis
    • , Immaculata De Vivo
    • , Ti Ding
    • , Jennifer Doherty
    • , Eric J. Duell
    • , Caroline G. Epstein
    • , Jin-Hu Fan
    • , Jonine D. Figueroa
    • , Joseph F. Fraumeni
    • , Christine M. Friedenreich
    • , Charles S. Fuchs
    • , Steven Gallinger
    • , Yu-Tang Gao
    • , Susan M. Gapstur
    • , Montserrat Garcia-Closas
    • , Mia M. Gaudet
    • , J. Michael Gaziano
    • , Graham G. Giles
    • , Elizabeth M. Gillanders
    • , Edward L. Giovannucci
    • , Lynn Goldin
    • , Alisa M. Goldstein
    • , Christopher A. Haiman
    • , Goran Hallmans
    • , Susan E. Hankinson
    • , Curtis C. Harris
    • , Roger Henriksson
    • , Elizabeth A. Holly
    • , Yun-Chul Hong
    • , Robert N. Hoover
    • , Chao A. Hsiung
    • , Nan Hu
    • , Wei Hu
    • , David J. Hunter
    • , Amy Hutchinson
    • , Mazda Jenab
    • , Christoffer Johansen
    • , Kay-Tee Khaw
    • , Hee Nam Kim
    • , Yeul Hong Kim
    • , Young Tae Kim
    • , Alison P. Klein
    • , Robert Klein
    • , Woon-Puay Koh
    • , Laurence N. Kolonel
    • , Charles Kooperberg
    • , Peter Kraft
    • , Vittorio Krogh
    • , Robert C. Kurtz
    • , Andrea LaCroix
    • , Qing Lan
    • , Maria Teresa Landi
    • , Loic Le Marchand
    • , Donghui Li
    • , Xiaolin Liang
    • , Linda M. Liao
    • , Dongxin Lin
    • , Jianjun Liu
    • , Jolanta Lissowska
    • , Lingeng Lu
    • , Anthony M. Magliocco
    • , Nuria Malats
    • , Keitaro Matsuo
    • , Lorna H. McNeill
    • , Robert R. McWilliams
    • , Beatrice S. Melin
    • , Lisa Mirabello
    • , Lee Moore
    • , Sara H. Olson
    • , Irene Orlow
    • , Jae Yong Park
    • , Ana Patiño-Garcia
    • , Beata Peplonska
    • , Ulrike Peters
    • , Gloria M. Petersen
    • , Loreall Pooler
    • , Jennifer Prescott
    • , Ludmila Prokunina-Olsson
    • , Mark P. Purdue
    • , You-Lin Qiao
    • , Preetha Rajaraman
    • , Francisco X. Real
    • , Elio Riboli
    • , Harvey A. Risch
    • , Benjamin Rodriguez-Santiago
    • , Avima M. Ruder
    • , Sharon A. Savage
    • , Fredrick Schumacher
    • , Ann G. Schwartz
    • , Kendra L. Schwartz
    • , Adeline Seow
    • , Veronica Wendy Setiawan
    • , Gianluca Severi
    • , Hongbing Shen
    • , Xin Sheng
    • , Min-Ho Shin
    • , Xiao-Ou Shu
    • , Debra T. Silverman
    • , Margaret R. Spitz
    • , Victoria L. Stevens
    • , Rachael Stolzenberg-Solomon
    • , Daniel Stram
    • , Ze-Zhong Tang
    • , Philip R. Taylor
    • , Lauren R. Teras
    • , Geoffrey S. Tobias
    • , David Van Den Berg
    • , Kala Visvanathan
    • , Sholom Wacholder
    • , Jiu-Cun Wang
    • , Zhaoming Wang
    • , Nicolas Wentzensen
    • , William Wheeler
    • , Emily White
    • , John K. Wiencke
    • , Brian M. Wolpin
    • , Maria Pik Wong
    • , Chen Wu
    • , Tangchun Wu
    • , Xifeng Wu
    • , Yi-Long Wu
    • , Jay S. Wunder
    • , Lucy Xia
    • , Hannah P. Yang
    • , Pan-Chyr Yang
    • , Kai Yu
    • , Krista A. Zanetti
    • , Anne Zeleniuch-Jacquotte
    • , Wei Zheng
    • , Baosen Zhou
    • , Regina G. Ziegler
    • , Luis A. Perez-Jurado
    • , Neil E. Caporaso
    • , Nathaniel Rothman
    • , Margaret Tucker
    • , Michael C. Dean
    • , Meredith Yeager
    •  & Stephen J. Chanock
  • Research | | open

    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
    • , Niels Van der Aa
    • , Parveen Kumar
    • , Koen Theunis
    • , Elia Fernandez Gallardo
    • , Thierry Voet
    •  & Magdalena Zernicka-Goetz

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