Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Marta Puig; David Castellano; Lorena Pantano; Carla Giner-Delgado; David Izquierdo; Magdalena Gayà-Vidal; José Ignacio Lucas-Lledó; Tõnu Esko; Chikashi Terao; Fumihiko Matsuda; Mario Cáceres

doi:10.1371/journal.pgen.1005495

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Open Access

Peer-reviewed

Research Article

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Marta Puig,

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
David Castellano,

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
Lorena Pantano,

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
Carla Giner-Delgado,

Affiliations Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
David Izquierdo,

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
Magdalena Gayà-Vidal,

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
José Ignacio Lucas-Lledó,

Current address: Institut Cavanilles de Biologia Evolutiva i Biodiversitat, Universitat de València, València, Spain

Affiliation Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
⨯
Tõnu Esko,

Affiliations Estonian Biobank, Estonian Genome Center, University of Tartu, Tartu, Estonia, Boston Children's Hospital, Harvard Medical School, and Broad Institute of Harvard and MIT, Boston, Massachusetts, United States of America
⨯
Chikashi Terao,

Affiliation Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
⨯
Fumihiko Matsuda,

Affiliation Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
⨯
Mario Cáceres

* E-mail: mcaceres@icrea.cat

Affiliations Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain, Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
⨯

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Marta Puig,
David Castellano,
Lorena Pantano,
Carla Giner-Delgado,
David Izquierdo,
Magdalena Gayà-Vidal,
José Ignacio Lucas-Lledó,
Tõnu Esko,
Chikashi Terao,
Fumihiko Matsuda

Published: October 1, 2015
https://doi.org/10.1371/journal.pgen.1005495

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Single nucleotide polymorphisms
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Gene expression
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Chromosomal inversions
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Heterozygosity
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Genomics
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Haplotypes
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Homozygosity
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Variant genotypes
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