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Research Article

A Retrotransposon Insertion in the 5′ Regulatory Domain of Ptf1a Results in Ectopic Gene Expression and Multiple Congenital Defects in Danforth's Short Tail Mouse

  • Francesca Lugani,

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

    X
  • Ripla Arora,

    Affiliation: Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Natalia Papeta,

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

    X
  • Ami Patel,

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Zongyu Zheng,

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Roel Sterken,

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

    X
  • Ruth A. Singer,

    Affiliation: Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Gianluca Caridi,

    Affiliation: Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy

    X
  • Cathy Mendelsohn,

    Affiliations: Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America, Department of Urology, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

    X
  • Lori Sussel,

    Affiliation: Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Virginia E. Papaioannou,

    Affiliation: Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

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  • Ali G. Gharavi mail

    ag2239@columbia.edu

    Affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

    X
  • Published: February 21, 2013
  • DOI: 10.1371/journal.pgen.1003206

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Ectopic Expression of Ptf1a Induces Spinal Defects, Urogenital Defects, and Anorectal Malformations in Danforth's Short Tail Mice

Kei Semba, Kimi Araki, Ken-ichirou Matsumoto, Hiroko Suda, Takashi Ando, Akira Sei, Hiroshi Mizuta, Katsumasa Takagi, Mai Nakahara, Mayumi Muta, Gen Yamada, ...
Research Article | published 21 Feb 2013 | PLOS Genetics
doi:10.1371/journal.pgen.1003204

Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression

Christopher N. Vlangos, Amanda N. Siuniak, Dan Robinson, Arul M. Chinnaiyan, Robert H. Lyons Jr, James D. Cavalcoli, Catherine E. Keegan
Research Article | published 21 Feb 2013 | PLOS Genetics
doi:10.1371/journal.pgen.1003205

Retrotransposon Activates Ectopic Ptf1 Expression: A Short Tail

Bruce A. Hamilton
Perspective | published 21 Feb 2013 | PLOS Genetics
doi:10.1371/journal.pgen.1003331