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Research Article

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

  • Kei Semba equal contributor,

    equal contributor Contributed equally to this work with: Kei Semba, Kimi Araki

    Affiliations: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan, Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

    X
  • Kimi Araki equal contributor,

    equal contributor Contributed equally to this work with: Kei Semba, Kimi Araki

    Affiliation: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

    X
  • Ken-ichirou Matsumoto,

    Affiliations: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan, Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

    X
  • Hiroko Suda,

    Affiliations: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan, Department of Transplantation/Pediatric Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

    X
  • Takashi Ando,

    Affiliations: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan, Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

    X
  • Akira Sei,

    Affiliation: Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

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  • Hiroshi Mizuta,

    Affiliation: Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

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  • Katsumasa Takagi,

    Affiliation: Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan

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  • Mai Nakahara,

    Affiliation: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

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  • Mayumi Muta,

    Affiliation: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

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  • Gen Yamada,

    Affiliation: Department of Organ Formation, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

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  • Naomi Nakagata,

    Affiliation: Division of Reproductive Engineering, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

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  • Aritoshi Iida,

    Affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan

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  • Shiro Ikegawa,

    Affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan

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  • Yusuke Nakamura,

    Affiliation: Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan

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  • Masatake Araki,

    Affiliation: Division of Bioinformatics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

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  • Kuniya Abe,

    Affiliation: Technology Development Team for Mammalian Cellular Dynamics, BioResource Center, RIKEN, Tsukuba, Ibaraki, Japan

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  • Ken-ichi Yamamura mail

    yamamura@gpo.kumamoto-u.ac.jp

    Affiliation: Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan

    X
  • Published: February 21, 2013
  • DOI: 10.1371/journal.pgen.1003204

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

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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

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Retrotransposon Activates Ectopic Ptf1 Expression: A Short Tail

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