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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants</title><author><name sortKey="Kagawa, Reiko" sort="Kagawa, Reiko" uniqKey="Kagawa R" first="Reiko" last="Kagawa">Reiko Kagawa</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Fujiki, Ryoji" sort="Fujiki, Ryoji" uniqKey="Fujiki R" first="Ryoji" last="Fujiki">Ryoji Fujiki</name><affiliation><nlm:aff id="A2">Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan</nlm:aff></affiliation></author><author><name sortKey="Tsumura, Miyuki" sort="Tsumura, Miyuki" uniqKey="Tsumura M" first="Miyuki" last="Tsumura">Miyuki Tsumura</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Sakata, Sonoko" sort="Sakata, Sonoko" uniqKey="Sakata S" first="Sonoko" last="Sakata">Sonoko Sakata</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Nishimura, Shiho" sort="Nishimura, Shiho" uniqKey="Nishimura S" first="Shiho" last="Nishimura">Shiho Nishimura</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kong, Xiao Fei" sort="Kong, Xiao Fei" uniqKey="Kong X" first="Xiao-Fei" last="Kong">Xiao-Fei Kong</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kato, Zenichiro" sort="Kato, Zenichiro" uniqKey="Kato Z" first="Zenichiro" last="Kato">Zenichiro Kato</name><affiliation><nlm:aff id="A4">Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Structural Medicine, The United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan</nlm:aff></affiliation></author><author><name sortKey="Ohnishi, Hidenori" sort="Ohnishi, Hidenori" uniqKey="Ohnishi H" first="Hidenori" last="Ohnishi">Hidenori Ohnishi</name><affiliation><nlm:aff id="A4">Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan</nlm:aff></affiliation></author><author><name sortKey="Hirata, Osamu" sort="Hirata, Osamu" uniqKey="Hirata O" first="Osamu" last="Hirata">Osamu Hirata</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Saito, Satoshi" sort="Saito, Satoshi" uniqKey="Saito S" first="Satoshi" last="Saito">Satoshi Saito</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Ikeda, Maiko" sort="Ikeda, Maiko" uniqKey="Ikeda M" first="Maiko" last="Ikeda">Maiko Ikeda</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Okazaki City Hospital, Aichi, Japan</nlm:aff></affiliation></author><author><name sortKey="El Baghdadi, Jamila" sort="El Baghdadi, Jamila" uniqKey="El Baghdadi J" first="Jamila" last="El Baghdadi">Jamila El Baghdadi</name><affiliation><nlm:aff id="A7">Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="A8">Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Marocco</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Averroes University Hospital, B.P 2698, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Fujiwara, Kaori" sort="Fujiwara, Kaori" uniqKey="Fujiwara K" first="Kaori" last="Fujiwara">Kaori Fujiwara</name><affiliation><nlm:aff id="A10">Department of Pediatrics, National Hospital Organization Fukuyama Medical Center, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Oleastro, Matias" sort="Oleastro, Matias" uniqKey="Oleastro M" first="Matias" last="Oleastro">Matias Oleastro</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Yancoski, Judith" sort="Yancoski, Judith" uniqKey="Yancoski J" first="Judith" last="Yancoski">Judith Yancoski</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Perez, Laura" sort="Perez, Laura" uniqKey="Perez L" first="Laura" last="Perez">Laura Perez</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Danielian, Silvia" sort="Danielian, Silvia" uniqKey="Danielian S" first="Silvia" last="Danielian">Silvia Danielian</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="A8">Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Marocco</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Averroes University Hospital, B.P 2698, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Takada, Hidetoshi" sort="Takada, Hidetoshi" uniqKey="Takada H" first="Hidetoshi" last="Takada">Hidetoshi Takada</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Hara, Toshiro" sort="Hara, Toshiro" uniqKey="Hara T" first="Toshiro" last="Hara">Toshiro Hara</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Howard Hughes Medical Institute, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Ohara, Osamu" sort="Ohara, Osamu" uniqKey="Ohara O" first="Osamu" last="Ohara">Osamu Ohara</name><affiliation><nlm:aff id="A2">Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan</nlm:aff></affiliation></author><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28011069</idno><idno type="pmc">5471135</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471135</idno><idno type="RBID">PMC:5471135</idno><idno type="doi">10.1016/j.jaci.2016.09.035</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000148</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000148</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants</title><author><name sortKey="Kagawa, Reiko" sort="Kagawa, Reiko" uniqKey="Kagawa R" first="Reiko" last="Kagawa">Reiko Kagawa</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Fujiki, Ryoji" sort="Fujiki, Ryoji" uniqKey="Fujiki R" first="Ryoji" last="Fujiki">Ryoji Fujiki</name><affiliation><nlm:aff id="A2">Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan</nlm:aff></affiliation></author><author><name sortKey="Tsumura, Miyuki" sort="Tsumura, Miyuki" uniqKey="Tsumura M" first="Miyuki" last="Tsumura">Miyuki Tsumura</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Sakata, Sonoko" sort="Sakata, Sonoko" uniqKey="Sakata S" first="Sonoko" last="Sakata">Sonoko Sakata</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Nishimura, Shiho" sort="Nishimura, Shiho" uniqKey="Nishimura S" first="Shiho" last="Nishimura">Shiho Nishimura</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kong, Xiao Fei" sort="Kong, Xiao Fei" uniqKey="Kong X" first="Xiao-Fei" last="Kong">Xiao-Fei Kong</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kato, Zenichiro" sort="Kato, Zenichiro" uniqKey="Kato Z" first="Zenichiro" last="Kato">Zenichiro Kato</name><affiliation><nlm:aff id="A4">Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Structural Medicine, The United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan</nlm:aff></affiliation></author><author><name sortKey="Ohnishi, Hidenori" sort="Ohnishi, Hidenori" uniqKey="Ohnishi H" first="Hidenori" last="Ohnishi">Hidenori Ohnishi</name><affiliation><nlm:aff id="A4">Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan</nlm:aff></affiliation></author><author><name sortKey="Hirata, Osamu" sort="Hirata, Osamu" uniqKey="Hirata O" first="Osamu" last="Hirata">Osamu Hirata</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Saito, Satoshi" sort="Saito, Satoshi" uniqKey="Saito S" first="Satoshi" last="Saito">Satoshi Saito</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Ikeda, Maiko" sort="Ikeda, Maiko" uniqKey="Ikeda M" first="Maiko" last="Ikeda">Maiko Ikeda</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Okazaki City Hospital, Aichi, Japan</nlm:aff></affiliation></author><author><name sortKey="El Baghdadi, Jamila" sort="El Baghdadi, Jamila" uniqKey="El Baghdadi J" first="Jamila" last="El Baghdadi">Jamila El Baghdadi</name><affiliation><nlm:aff id="A7">Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="A8">Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Marocco</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Averroes University Hospital, B.P 2698, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Fujiwara, Kaori" sort="Fujiwara, Kaori" uniqKey="Fujiwara K" first="Kaori" last="Fujiwara">Kaori Fujiwara</name><affiliation><nlm:aff id="A10">Department of Pediatrics, National Hospital Organization Fukuyama Medical Center, Hiroshima, Japan</nlm:aff></affiliation></author><author><name sortKey="Oleastro, Matias" sort="Oleastro, Matias" uniqKey="Oleastro M" first="Matias" last="Oleastro">Matias Oleastro</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Yancoski, Judith" sort="Yancoski, Judith" uniqKey="Yancoski J" first="Judith" last="Yancoski">Judith Yancoski</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Perez, Laura" sort="Perez, Laura" uniqKey="Perez L" first="Laura" last="Perez">Laura Perez</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Danielian, Silvia" sort="Danielian, Silvia" uniqKey="Danielian S" first="Silvia" last="Danielian">Silvia Danielian</name><affiliation><nlm:aff id="A11">Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="A8">Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Marocco</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Averroes University Hospital, B.P 2698, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Takada, Hidetoshi" sort="Takada, Hidetoshi" uniqKey="Takada H" first="Hidetoshi" last="Takada">Hidetoshi Takada</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Hara, Toshiro" sort="Hara, Toshiro" uniqKey="Hara T" first="Toshiro" last="Hara">Toshiro Hara</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Howard Hughes Medical Institute, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Ohara, Osamu" sort="Ohara, Osamu" uniqKey="Ohara O" first="Osamu" last="Ohara">Osamu Ohara</name><affiliation><nlm:aff id="A2">Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan</nlm:aff></affiliation></author><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation><affiliation><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</nlm:aff></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of allergy and clinical immunology</title><idno type="ISSN">0091-6749</idno><idno type="eISSN">1097-6825</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P2">Germline heterozygous mutations in human <italic>STAT1</italic> can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases (MSMD), or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis (CMC). LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil and DNA-binding domains (CCD/DBD). Moreover, 6% of CMC patients with a GOF <italic>STAT1</italic> mutation develop mycobacterial disease, obscuring the functional significance of the identified <italic>STAT1</italic> mutations. Current computational approaches, such as <italic>combined annotation-dependent depletion</italic>, do not distinguish LOF and GOF variants</p></sec><sec id="S2"><title>Objective</title><p id="P3">Estimate variations in CCD/DBD of STAT1</p></sec><sec id="S3"><title>Method</title><p id="P4">Mutagenized 342 individual wild-type amino acids in CCD/DBD (45.6% of full-length STAT1) to alanine and tested the mutants for STAT1 transcriptional activity.</p></sec><sec id="S4"><title>Results</title><p id="P5">Of these 342 mutants, 201 were neutral, 30 LOF, and 111 GOF in a luciferase assay. This assay system correctly estimated all previously reported LOF mutations (100%) and slightly fewer GOF mutations (78.1%) in CCD/DBD of STAT1. We found that GOF alanine mutants occurred at the interface of the antiparallel STAT1 dimer, suggesting that they destabilize this dimer. This assay also precisely predicted the impact of two hypomorphic and dominant-negative mutations, E157K and G250E, in CCD of STAT1 that we found in two unrelated MSMD patients.</p></sec><sec id="S5"><title>Conclusion</title><p id="P6">Systematic alanine-scanning assay is a useful tool to estimate the GOF or LOF status and impact of heterozygous missense mutations in <italic>STAT1</italic> identified in patients with severe infectious diseases, including mycobacterial and fungal diseases.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">1275002</journal-id><journal-id journal-id-type="pubmed-jr-id">4431</journal-id><journal-id journal-id-type="nlm-ta">J Allergy Clin Immunol</journal-id><journal-id journal-id-type="iso-abbrev">J. Allergy Clin. Immunol.</journal-id><journal-title-group><journal-title>The Journal of allergy and clinical immunology</journal-title></journal-title-group><issn pub-type="ppub">0091-6749</issn><issn pub-type="epub">1097-6825</issn></journal-meta><article-meta><article-id pub-id-type="pmid">28011069</article-id><article-id pub-id-type="pmc">5471135</article-id><article-id pub-id-type="doi">10.1016/j.jaci.2016.09.035</article-id><article-id pub-id-type="manuscript">NIHMS841900</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kagawa</surname><given-names>Reiko</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">a</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Fujiki</surname><given-names>Ryoji</given-names></name><xref ref-type="aff" rid="A2">b</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Tsumura</surname><given-names>Miyuki</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Sakata</surname><given-names>Sonoko</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Nishimura</surname><given-names>Shiho</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Itan</surname><given-names>Yuval</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Kong</surname><given-names>Xiao-Fei</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Kato</surname><given-names>Zenichiro</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A4">d</xref><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Ohnishi</surname><given-names>Hidenori</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A4">d</xref></contrib><contrib contrib-type="author"><name><surname>Hirata</surname><given-names>Osamu</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Saito</surname><given-names>Satoshi</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Ikeda</surname><given-names>Maiko</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>El Baghdadi</surname><given-names>Jamila</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Bousfiha</surname><given-names>Aziz</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A8">h</xref><xref ref-type="aff" rid="A9">i</xref></contrib><contrib contrib-type="author"><name><surname>Fujiwara</surname><given-names>Kaori</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A10">j</xref></contrib><contrib contrib-type="author"><name><surname>Oleastro</surname><given-names>Matias</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A11">k</xref></contrib><contrib contrib-type="author"><name><surname>Yancoski</surname><given-names>Judith</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A11">k</xref></contrib><contrib contrib-type="author"><name><surname>Perez</surname><given-names>Laura</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A11">k</xref></contrib><contrib contrib-type="author"><name><surname>Danielian</surname><given-names>Silvia</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A11">k</xref></contrib><contrib contrib-type="author"><name><surname>Ailal</surname><given-names>Fatima</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A8">h</xref><xref ref-type="aff" rid="A9">i</xref></contrib><contrib contrib-type="author"><name><surname>Takada</surname><given-names>Hidetoshi</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A12">l</xref></contrib><contrib contrib-type="author"><name><surname>Hara</surname><given-names>Toshiro</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A12">l</xref></contrib><contrib contrib-type="author"><name><surname>Puel</surname><given-names>Anne</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A13">m</xref><xref ref-type="aff" rid="A14">n</xref></contrib><contrib contrib-type="author"><name><surname>Boisson-Dupuis</surname><given-names>Stéphanie</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A13">m</xref><xref ref-type="aff" rid="A14">n</xref></contrib><contrib contrib-type="author"><name><surname>Bustamante</surname><given-names>Jacinta</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A13">m</xref><xref ref-type="aff" rid="A14">n</xref><xref ref-type="aff" rid="A15">o</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A13">m</xref><xref ref-type="aff" rid="A14">n</xref><xref ref-type="aff" rid="A16">p</xref><xref ref-type="aff" rid="A17">q</xref></contrib><contrib contrib-type="author"><name><surname>Ohara</surname><given-names>Osamu</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A2">b</xref><xref ref-type="aff" rid="A18">r</xref></contrib><contrib contrib-type="author"><name><surname>Okada</surname><given-names>Satoshi</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Kobayashi</surname><given-names>Masao</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib></contrib-group><aff id="A1"><label>a</label>Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan</aff><aff id="A2"><label>b</label>Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan</aff><aff id="A3"><label>c</label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, N Y, USA</aff><aff id="A4"><label>d</label>Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan</aff><aff id="A5"><label>e</label>Structural Medicine, The United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan</aff><aff id="A6"><label>f</label>Department of Pediatrics, Okazaki City Hospital, Aichi, Japan</aff><aff id="A7"><label>g</label>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</aff><aff id="A8"><label>h</label>Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Marocco</aff><aff id="A9"><label>i</label>Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Averroes University Hospital, B.P 2698, Casablanca, Morocco</aff><aff id="A10"><label>j</label>Department of Pediatrics, National Hospital Organization Fukuyama Medical Center, Hiroshima, Japan</aff><aff id="A11"><label>k</label>Department of Immunology, “Juan Pedro Garrahan” National Hospital of Pediatrics, Buenos Aires, Argentina</aff><aff id="A12"><label>l</label>Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan</aff><aff id="A13"><label>m</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France</aff><aff id="A14"><label>n</label>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France</aff><aff id="A15"><label>o</label>Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</aff><aff id="A16"><label>p</label>Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France</aff><aff id="A17"><label>q</label>Howard Hughes Medical Institute, New York, NY, USA</aff><aff id="A18"><label>r</label>Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan</aff><author-notes><corresp id="cor1">Correspondence: Satoshi Okada, MD, PhD, Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan Tel: +81-82-257-5212 Fax: +81-82-257-5214 <email>saok969@gmail.com</email></corresp><fn id="FN1" fn-type="equal"><label>*</label><p id="P1">These authors contributed equally to this work</p></fn><fn fn-type="COI-statement" id="FN4"><p id="P28"><bold>Disclosure of potential conflict of interest:</bold></p><p id="P29">The authors have no conflict of interest to declare.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>1</month><year>2017</year></pub-date><pub-date pub-type="epub"><day>20</day><month>12</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2018</year></pub-date><volume>140</volume><issue>1</issue><fpage>232</fpage><lpage>241</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.jaci.2016.09.035</pmc-comment>
<abstract id="Abs1"><sec id="S1"><title>Background</title><p id="P2">Germline heterozygous mutations in human <italic>STAT1</italic> can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases (MSMD), or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis (CMC). LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil and DNA-binding domains (CCD/DBD). Moreover, 6% of CMC patients with a GOF <italic>STAT1</italic> mutation develop mycobacterial disease, obscuring the functional significance of the identified <italic>STAT1</italic> mutations. Current computational approaches, such as <italic>combined annotation-dependent depletion</italic>, do not distinguish LOF and GOF variants</p></sec><sec id="S2"><title>Objective</title><p id="P3">Estimate variations in CCD/DBD of STAT1</p></sec><sec id="S3"><title>Method</title><p id="P4">Mutagenized 342 individual wild-type amino acids in CCD/DBD (45.6% of full-length STAT1) to alanine and tested the mutants for STAT1 transcriptional activity.</p></sec><sec id="S4"><title>Results</title><p id="P5">Of these 342 mutants, 201 were neutral, 30 LOF, and 111 GOF in a luciferase assay. This assay system correctly estimated all previously reported LOF mutations (100%) and slightly fewer GOF mutations (78.1%) in CCD/DBD of STAT1. We found that GOF alanine mutants occurred at the interface of the antiparallel STAT1 dimer, suggesting that they destabilize this dimer. This assay also precisely predicted the impact of two hypomorphic and dominant-negative mutations, E157K and G250E, in CCD of STAT1 that we found in two unrelated MSMD patients.</p></sec><sec id="S5"><title>Conclusion</title><p id="P6">Systematic alanine-scanning assay is a useful tool to estimate the GOF or LOF status and impact of heterozygous missense mutations in <italic>STAT1</italic> identified in patients with severe infectious diseases, including mycobacterial and fungal diseases.</p></sec></abstract><abstract abstract-type="short" id="Abs2"><title>Capsule summary</title><p id="P7">Reference database based on the alanine-scanning assay is a useful tool for evaluating unknown variations in STAT1. Gain-of-function alanine mutants occurred at the interface of the antiparallel STAT1 dimer, suggesting that they destabilize this dimer.</p></abstract><kwd-group><kwd>STAT1</kwd><kwd>alanine-scanning</kwd><kwd>chronic mucocutaneous candidiasis</kwd><kwd>mendelian susceptibility to mycobacterial disease</kwd><kwd>reference database</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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