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Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene : Lack of association with SARS in the vietnamese population

Identifieur interne : 000341 ( PascalFrancis/Curation ); précédent : 000340; suivant : 000342

Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene : Lack of association with SARS in the vietnamese population

Auteurs : Satoru Itoyama [Japon] ; Naoto Keicho [Japon] ; Minako Hijikata [Japon] ; Tran Quy [Viêt Nam] ; NGUYEN CHI PHI [Viêt Nam] ; HOANG THUY LONG [Viêt Nam] ; LE DANG HA [Viêt Nam] ; VO VAN BAN [Viêt Nam] ; Ikumi Matsushita [Japon] ; Hideki Yanai [Japon] ; Fumiko Kirikae [Japon] ; Teruo Kirikae [Japon] ; Tadatoshi Kuratsuji [Japon] ; Takehiko Sasazuki [Japon]

Source :

RBID : Pascal:05-0314695

Descripteurs français

English descriptors

Abstract

We analyzed genetic variations of angiotensin-converting enzyme 2 (ACE2), considering that it might influence patients' susceptibility to severe acute respiratory syndrome-associated coronavirus (SARS-CoV) or development of SARS as a functional receptor. By cloning of the full-length cDNA of the ACE2 gene in the lung, where replication occurs on SARS-CoV, it was shown that there are different splicing sites. All exons including the new alternative exon, exon-intron boundaries, and the corresponding 5'-flanking region of the gene were investigated and 19 single nucleotide polymorphisms (SNPs) were found. Out of these, 13 SNPs including one non-synonymous substitution and three 3'-UTR polymorphisms were newly identified. A case control study involving 44 SARS cases, 16 anti-SARS-CoV antibody-positive contacts, 87 antibody-negative contacts, and 50 non-contacts in Vietnam, failed to obtain any evidence that the ACE2 gene polymorphisms are involved in the disease process in the population. Nevertheless, identification of new 5'-untranslated exon and new SNPs is considered helpful in investigating regulation of ACE2 gene expression in the future.
pA  
A01 01  1    @0 0148-7299
A02 01      @0 AJMGDA
A03   1    @0 Am. j. med. genet.
A05       @2 136A
A06       @2 1
A08 01  1  ENG  @1 Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene : Lack of association with SARS in the vietnamese population
A11 01  1    @1 ITOYAMA (Satoru)
A11 02  1    @1 KEICHO (Naoto)
A11 03  1    @1 HIJIKATA (Minako)
A11 04  1    @1 QUY (Tran)
A11 05  1    @1 NGUYEN CHI PHI
A11 06  1    @1 HOANG THUY LONG
A11 07  1    @1 LE DANG HA
A11 08  1    @1 VO VAN BAN
A11 09  1    @1 MATSUSHITA (Ikumi)
A11 10  1    @1 YANAI (Hideki)
A11 11  1    @1 KIRIKAE (Fumiko)
A11 12  1    @1 KIRIKAE (Teruo)
A11 13  1    @1 KURATSUJI (Tadatoshi)
A11 14  1    @1 SASAZUKI (Takehiko)
A14 01      @1 Department of Respiratory Diseases, Research Institute, International Medical Center of Japan @2 Tokyo @3 JPN @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 9 aut.
A14 02      @1 Bach Mai Hospital @2 Hanoi @3 VNM @Z 4 aut. @Z 5 aut.
A14 03      @1 National Institute of Hygiene and Epidemiology @2 Hanoi @3 VNM @Z 6 aut.
A14 04      @1 Institute for Clinical Research in Tropical Medicine @3 VNM @Z 7 aut.
A14 05      @1 Hanoi-French Hospital @3 VNM @Z 8 aut.
A14 06      @1 The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association @3 JPN @Z 10 aut.
A14 07      @1 Department of Infectious Diseases, Research Institute, International Medical Center of Japan @3 JPN @Z 11 aut. @Z 12 aut.
A14 08      @1 Research Institute, International Medical Center of Japan @3 JPN @Z 13 aut.
A14 09      @1 International Medical Center of Japan @3 JPN @Z 14 aut.
A20       @1 52-57
A21       @1 2005
A23 01      @0 ENG
A43 01      @1 INIST @2 17405 @5 354000132241680100
A44       @0 0000 @1 © 2005 INIST-CNRS. All rights reserved.
A45       @0 25 ref.
A47 01  1    @0 05-0314695
A60       @1 P
A61       @0 A
A64 01  1    @0 American journal of medical genetics
A66 01      @0 USA
C01 01    ENG  @0 We analyzed genetic variations of angiotensin-converting enzyme 2 (ACE2), considering that it might influence patients' susceptibility to severe acute respiratory syndrome-associated coronavirus (SARS-CoV) or development of SARS as a functional receptor. By cloning of the full-length cDNA of the ACE2 gene in the lung, where replication occurs on SARS-CoV, it was shown that there are different splicing sites. All exons including the new alternative exon, exon-intron boundaries, and the corresponding 5'-flanking region of the gene were investigated and 19 single nucleotide polymorphisms (SNPs) were found. Out of these, 13 SNPs including one non-synonymous substitution and three 3'-UTR polymorphisms were newly identified. A case control study involving 44 SARS cases, 16 anti-SARS-CoV antibody-positive contacts, 87 antibody-negative contacts, and 50 non-contacts in Vietnam, failed to obtain any evidence that the ACE2 gene polymorphisms are involved in the disease process in the population. Nevertheless, identification of new 5'-untranslated exon and new SNPs is considered helpful in investigating regulation of ACE2 gene expression in the future.
C02 01  X    @0 002B23A
C02 02  X    @0 002B05C02C
C03 01  X  FRE  @0 Identification @5 09
C03 01  X  ENG  @0 Identification @5 09
C03 01  X  SPA  @0 Identificación @5 09
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C03 02  X  ENG  @0 Exon @5 10
C03 02  X  SPA  @0 Exón @5 10
C03 03  X  FRE  @0 Polymorphisme @5 11
C03 03  X  ENG  @0 Polymorphism @5 11
C03 03  X  SPA  @0 Polimorfismo @5 11
C03 04  X  FRE  @0 Peptidyl-dipeptidase A @2 FE @5 12
C03 04  X  ENG  @0 Peptidyl-dipeptidase A @2 FE @5 12
C03 04  X  SPA  @0 Peptidyl-dipeptidase A @2 FE @5 12
C03 05  X  FRE  @0 Gène @5 13
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C03 06  X  SPA  @0 Asociación @5 14
C03 07  X  FRE  @0 Syndrome respiratoire aigu sévère @2 NM @5 15
C03 07  X  ENG  @0 Severe acute respiratory syndrome @2 NM @5 15
C03 07  X  SPA  @0 Síndrome respiratorio agudo severo @2 NM @5 15
C03 08  X  FRE  @0 Vietnam @2 NG @5 17
C03 08  X  ENG  @0 Vietnam @2 NG @5 17
C03 08  X  SPA  @0 Vietnam @2 NG @5 17
C03 09  X  FRE  @0 Population @5 18
C03 09  X  ENG  @0 Population @5 18
C03 09  X  SPA  @0 Población @5 18
C03 10  X  FRE  @0 Coronavirus @2 NW @5 19
C03 10  X  ENG  @0 Coronavirus @2 NW @5 19
C03 10  X  SPA  @0 Coronavirus @2 NW @5 19
C03 11  X  FRE  @0 Récepteur biologique @5 21
C03 11  X  ENG  @0 Biological receptor @5 21
C03 11  X  SPA  @0 Receptor biológico @5 21
C03 12  X  FRE  @0 Génétique @5 22
C03 12  X  ENG  @0 Genetics @5 22
C03 12  X  SPA  @0 Genética @5 22
C03 13  X  FRE  @0 Homme @5 23
C03 13  X  ENG  @0 Human @5 23
C03 13  X  SPA  @0 Hombre @5 23
C07 01  X  FRE  @0 Peptidyl-dipeptidases @2 FE
C07 01  X  ENG  @0 Peptidyl-dipeptidases @2 FE
C07 01  X  SPA  @0 Peptidyl-dipeptidases @2 FE
C07 02  X  FRE  @0 Peptidases @2 FE
C07 02  X  ENG  @0 Peptidases @2 FE
C07 02  X  SPA  @0 Peptidases @2 FE
C07 03  X  FRE  @0 Hydrolases @2 FE
C07 03  X  ENG  @0 Hydrolases @2 FE
C07 03  X  SPA  @0 Hydrolases @2 FE
C07 04  X  FRE  @0 Enzyme @2 FE
C07 04  X  ENG  @0 Enzyme @2 FE
C07 04  X  SPA  @0 Enzima @2 FE
C07 05  X  FRE  @0 Virose
C07 05  X  ENG  @0 Viral disease
C07 05  X  SPA  @0 Virosis
C07 06  X  FRE  @0 Infection
C07 06  X  ENG  @0 Infection
C07 06  X  SPA  @0 Infección
C07 07  X  FRE  @0 Asie @2 NG
C07 07  X  ENG  @0 Asia @2 NG
C07 07  X  SPA  @0 Asia @2 NG
C07 08  X  FRE  @0 Coronaviridae @2 NW
C07 08  X  ENG  @0 Coronaviridae @2 NW
C07 08  X  SPA  @0 Coronaviridae @2 NW
C07 09  X  FRE  @0 Nidovirales @2 NW
C07 09  X  ENG  @0 Nidovirales @2 NW
C07 09  X  SPA  @0 Nidovirales @2 NW
C07 10  X  FRE  @0 Virus @2 NW
C07 10  X  ENG  @0 Virus @2 NW
C07 10  X  SPA  @0 Virus @2 NW
C07 11  X  FRE  @0 Appareil respiratoire pathologie @5 37
C07 11  X  ENG  @0 Respiratory disease @5 37
C07 11  X  SPA  @0 Aparato respiratorio patología @5 37
C07 12  X  FRE  @0 Poumon pathologie @5 38
C07 12  X  ENG  @0 Lung disease @5 38
C07 12  X  SPA  @0 Pulmón patología @5 38
N21       @1 220
N44 01      @1 OTO
N82       @1 OTO

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Pascal:05-0314695

Le document en format XML

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<name sortKey="Vo Van Ban" sort="Vo Van Ban" uniqKey="Vo Van Ban" last="Vo Van Ban">VO VAN BAN</name>
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<name sortKey="Matsushita, Ikumi" sort="Matsushita, Ikumi" uniqKey="Matsushita I" first="Ikumi" last="Matsushita">Ikumi Matsushita</name>
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<name sortKey="Yanai, Hideki" sort="Yanai, Hideki" uniqKey="Yanai H" first="Hideki" last="Yanai">Hideki Yanai</name>
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<name sortKey="Kirikae, Fumiko" sort="Kirikae, Fumiko" uniqKey="Kirikae F" first="Fumiko" last="Kirikae">Fumiko Kirikae</name>
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<name sortKey="Kirikae, Teruo" sort="Kirikae, Teruo" uniqKey="Kirikae T" first="Teruo" last="Kirikae">Teruo Kirikae</name>
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<name sortKey="Kuratsuji, Tadatoshi" sort="Kuratsuji, Tadatoshi" uniqKey="Kuratsuji T" first="Tadatoshi" last="Kuratsuji">Tadatoshi Kuratsuji</name>
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<name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name>
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<title xml:lang="en" level="a">Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene : Lack of association with SARS in the vietnamese population</title>
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<name sortKey="Itoyama, Satoru" sort="Itoyama, Satoru" uniqKey="Itoyama S" first="Satoru" last="Itoyama">Satoru Itoyama</name>
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<s1>Department of Respiratory Diseases, Research Institute, International Medical Center of Japan</s1>
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<name sortKey="Hijikata, Minako" sort="Hijikata, Minako" uniqKey="Hijikata M" first="Minako" last="Hijikata">Minako Hijikata</name>
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<name sortKey="Quy, Tran" sort="Quy, Tran" uniqKey="Quy T" first="Tran" last="Quy">Tran Quy</name>
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<s1>Bach Mai Hospital</s1>
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<name sortKey="Nguyen Chi Phi" sort="Nguyen Chi Phi" uniqKey="Nguyen Chi Phi" last="Nguyen Chi Phi">NGUYEN CHI PHI</name>
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<name sortKey="Hoang Thuy Long" sort="Hoang Thuy Long" uniqKey="Hoang Thuy Long" last="Hoang Thuy Long">HOANG THUY LONG</name>
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<s1>National Institute of Hygiene and Epidemiology</s1>
<s2>Hanoi</s2>
<s3>VNM</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Viêt Nam</country>
</affiliation>
</author>
<author>
<name sortKey="Le Dang Ha" sort="Le Dang Ha" uniqKey="Le Dang Ha" last="Le Dang Ha">LE DANG HA</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Institute for Clinical Research in Tropical Medicine</s1>
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<country>Viêt Nam</country>
</affiliation>
</author>
<author>
<name sortKey="Vo Van Ban" sort="Vo Van Ban" uniqKey="Vo Van Ban" last="Vo Van Ban">VO VAN BAN</name>
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<s1>Hanoi-French Hospital</s1>
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<country>Viêt Nam</country>
</affiliation>
</author>
<author>
<name sortKey="Matsushita, Ikumi" sort="Matsushita, Ikumi" uniqKey="Matsushita I" first="Ikumi" last="Matsushita">Ikumi Matsushita</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Respiratory Diseases, Research Institute, International Medical Center of Japan</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Japon</country>
</affiliation>
</author>
<author>
<name sortKey="Yanai, Hideki" sort="Yanai, Hideki" uniqKey="Yanai H" first="Hideki" last="Yanai">Hideki Yanai</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association</s1>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Japon</country>
</affiliation>
</author>
<author>
<name sortKey="Kirikae, Fumiko" sort="Kirikae, Fumiko" uniqKey="Kirikae F" first="Fumiko" last="Kirikae">Fumiko Kirikae</name>
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<author>
<name sortKey="Kuratsuji, Tadatoshi" sort="Kuratsuji, Tadatoshi" uniqKey="Kuratsuji T" first="Tadatoshi" last="Kuratsuji">Tadatoshi Kuratsuji</name>
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<name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name>
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<title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
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<title level="j" type="main">American journal of medical genetics</title>
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<div type="abstract" xml:lang="en">We analyzed genetic variations of angiotensin-converting enzyme 2 (ACE2), considering that it might influence patients' susceptibility to severe acute respiratory syndrome-associated coronavirus (SARS-CoV) or development of SARS as a functional receptor. By cloning of the full-length cDNA of the ACE2 gene in the lung, where replication occurs on SARS-CoV, it was shown that there are different splicing sites. All exons including the new alternative exon, exon-intron boundaries, and the corresponding 5'-flanking region of the gene were investigated and 19 single nucleotide polymorphisms (SNPs) were found. Out of these, 13 SNPs including one non-synonymous substitution and three 3'-UTR polymorphisms were newly identified. A case control study involving 44 SARS cases, 16 anti-SARS-CoV antibody-positive contacts, 87 antibody-negative contacts, and 50 non-contacts in Vietnam, failed to obtain any evidence that the ACE2 gene polymorphisms are involved in the disease process in the population. Nevertheless, identification of new 5'-untranslated exon and new SNPs is considered helpful in investigating regulation of ACE2 gene expression in the future.</div>
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   |texte=   Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene : Lack of association with SARS in the vietnamese population
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