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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

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  • 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

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  • 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

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  • 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

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  • 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

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  • 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

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

About the Authors

Francesca Lugani, Natalia Papeta, Ami Patel, Zongyu Zheng, Roel Sterken, Ali G. Gharavi
Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, United States of America
Ripla Arora, Ruth A. Singer, Cathy Mendelsohn, Lori Sussel, Virginia E. Papaioannou
Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, New York, United States of America
Gianluca Caridi
Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy
Cathy Mendelsohn
Department of Urology, Columbia University College of Physicians and Surgeons, New York, New York, United States of America

Corresponding Author

Email: ag2239@columbia.edu

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AGG FL VEP. Performed the experiments: FL RA ZZ NP RAS AP RS. Analyzed the data: FL RA NP GC VEP AGG. Contributed reagents/materials/analysis tools: LS CM VEP. Wrote the paper: FL RA LS VEP AGG.