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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 : 000649 ( PascalFrancis/Corpus ); précédent : 000648; suivant : 000650

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 ; Naoto Keicho ; Minako Hijikata ; Tran Quy ; NGUYEN CHI PHI ; HOANG THUY LONG ; LE DANG HA ; VO VAN BAN ; Ikumi Matsushita ; Hideki Yanai ; Fumiko Kirikae ; Teruo Kirikae ; Tadatoshi Kuratsuji ; Takehiko Sasazuki

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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
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C03 03  X  ENG  @0 Polymorphism @5 11
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C03 09  X  ENG  @0 Population @5 18
C03 09  X  SPA  @0 Población @5 18
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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
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C03 12  X  SPA  @0 Genética @5 22
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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
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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
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C07 11  X  ENG  @0 Respiratory disease @5 37
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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

Format Inist (serveur)

NO : PASCAL 05-0314695 INIST
ET : 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
AU : ITOYAMA (Satoru); KEICHO (Naoto); HIJIKATA (Minako); QUY (Tran); NGUYEN CHI PHI; HOANG THUY LONG; LE DANG HA; VO VAN BAN; MATSUSHITA (Ikumi); YANAI (Hideki); KIRIKAE (Fumiko); KIRIKAE (Teruo); KURATSUJI (Tadatoshi); SASAZUKI (Takehiko)
AF : Department of Respiratory Diseases, Research Institute, International Medical Center of Japan/Tokyo/Japon (1 aut., 2 aut., 3 aut., 9 aut.); Bach Mai Hospital/Hanoi/Viet Nam (4 aut., 5 aut.); National Institute of Hygiene and Epidemiology/Hanoi/Viet Nam (6 aut.); Institute for Clinical Research in Tropical Medicine/Viet Nam (7 aut.); Hanoi-French Hospital/Viet Nam (8 aut.); The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association/Japon (10 aut.); Department of Infectious Diseases, Research Institute, International Medical Center of Japan/Japon (11 aut., 12 aut.); Research Institute, International Medical Center of Japan/Japon (13 aut.); International Medical Center of Japan/Japon (14 aut.)
DT : Publication en série; Niveau analytique
SO : American journal of medical genetics; ISSN 0148-7299; Coden AJMGDA; Etats-Unis; Da. 2005; Vol. 136A; No. 1; Pp. 52-57; Bibl. 25 ref.
LA : Anglais
EA : 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.
CC : 002B23A; 002B05C02C
FD : Identification; Exon; Polymorphisme; Peptidyl-dipeptidase A; Gène; Association; Syndrome respiratoire aigu sévère; Vietnam; Population; Coronavirus; Récepteur biologique; Génétique; Homme
FG : Peptidyl-dipeptidases; Peptidases; Hydrolases; Enzyme; Virose; Infection; Asie; Coronaviridae; Nidovirales; Virus; Appareil respiratoire pathologie; Poumon pathologie
ED : Identification; Exon; Polymorphism; Peptidyl-dipeptidase A; Gene; Association; Severe acute respiratory syndrome; Vietnam; Population; Coronavirus; Biological receptor; Genetics; Human
EG : Peptidyl-dipeptidases; Peptidases; Hydrolases; Enzyme; Viral disease; Infection; Asia; Coronaviridae; Nidovirales; Virus; Respiratory disease; Lung disease
SD : Identificación; Exón; Polimorfismo; Peptidyl-dipeptidase A; Gen; Asociación; Síndrome respiratorio agudo severo; Vietnam; Población; Coronavirus; Receptor biológico; Genética; Hombre
LO : INIST-17405.354000132241680100
ID : 05-0314695

Links to Exploration step

Pascal:05-0314695

Le document en format XML

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</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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<inist:fA14 i1="05">
<s1>Hanoi-French Hospital</s1>
<s3>VNM</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author>
<name sortKey="Matsushita, Ikumi" sort="Matsushita, Ikumi" uniqKey="Matsushita I" first="Ikumi" last="Matsushita">Ikumi Matsushita</name>
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<s1>Department of Respiratory Diseases, Research Institute, International Medical Center of Japan</s1>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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</author>
<author>
<name sortKey="Yanai, Hideki" sort="Yanai, Hideki" uniqKey="Yanai H" first="Hideki" last="Yanai">Hideki Yanai</name>
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<inist:fA14 i1="06">
<s1>The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association</s1>
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</affiliation>
</author>
<author>
<name sortKey="Kirikae, Fumiko" sort="Kirikae, Fumiko" uniqKey="Kirikae F" first="Fumiko" last="Kirikae">Fumiko Kirikae</name>
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<inist:fA14 i1="07">
<s1>Department of Infectious Diseases, Research Institute, International Medical Center of Japan</s1>
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<sZ>12 aut.</sZ>
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</affiliation>
</author>
<author>
<name sortKey="Kirikae, Teruo" sort="Kirikae, Teruo" uniqKey="Kirikae T" first="Teruo" last="Kirikae">Teruo Kirikae</name>
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<inist:fA14 i1="07">
<s1>Department of Infectious Diseases, Research Institute, International Medical Center of Japan</s1>
<s3>JPN</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author>
<name sortKey="Kuratsuji, Tadatoshi" sort="Kuratsuji, Tadatoshi" uniqKey="Kuratsuji T" first="Tadatoshi" last="Kuratsuji">Tadatoshi Kuratsuji</name>
<affiliation>
<inist:fA14 i1="08">
<s1>Research Institute, International Medical Center of Japan</s1>
<s3>JPN</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author>
<name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name>
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<inist:fA14 i1="09">
<s1>International Medical Center of Japan</s1>
<s3>JPN</s3>
<sZ>14 aut.</sZ>
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<series>
<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>
<imprint>
<date when="2005">2005</date>
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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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<term>Association</term>
<term>Biological receptor</term>
<term>Coronavirus</term>
<term>Exon</term>
<term>Gene</term>
<term>Genetics</term>
<term>Human</term>
<term>Identification</term>
<term>Peptidyl-dipeptidase A</term>
<term>Polymorphism</term>
<term>Population</term>
<term>Severe acute respiratory syndrome</term>
<term>Vietnam</term>
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<keywords scheme="Pascal" xml:lang="fr">
<term>Identification</term>
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<term>Syndrome respiratoire aigu sévère</term>
<term>Vietnam</term>
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<front>
<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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<s1>ITOYAMA (Satoru)</s1>
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<s1>National Institute of Hygiene and Epidemiology</s1>
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<s1>Institute for Clinical Research in Tropical Medicine</s1>
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<s1>Research Institute, International Medical Center of Japan</s1>
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<s0>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.</s0>
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<s0>Severe acute respiratory syndrome</s0>
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<s5>21</s5>
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<s0>Biological receptor</s0>
<s5>21</s5>
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<s0>Receptor biológico</s0>
<s5>21</s5>
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<s0>Human</s0>
<s5>23</s5>
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<s0>Hombre</s0>
<s5>23</s5>
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<s0>Peptidyl-dipeptidases</s0>
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<s0>Peptidyl-dipeptidases</s0>
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<s0>Peptidyl-dipeptidases</s0>
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<ET>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</ET>
<AU>ITOYAMA (Satoru); KEICHO (Naoto); HIJIKATA (Minako); QUY (Tran); NGUYEN CHI PHI; HOANG THUY LONG; LE DANG HA; VO VAN BAN; MATSUSHITA (Ikumi); YANAI (Hideki); KIRIKAE (Fumiko); KIRIKAE (Teruo); KURATSUJI (Tadatoshi); SASAZUKI (Takehiko)</AU>
<AF>Department of Respiratory Diseases, Research Institute, International Medical Center of Japan/Tokyo/Japon (1 aut., 2 aut., 3 aut., 9 aut.); Bach Mai Hospital/Hanoi/Viet Nam (4 aut., 5 aut.); National Institute of Hygiene and Epidemiology/Hanoi/Viet Nam (6 aut.); Institute for Clinical Research in Tropical Medicine/Viet Nam (7 aut.); Hanoi-French Hospital/Viet Nam (8 aut.); The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association/Japon (10 aut.); Department of Infectious Diseases, Research Institute, International Medical Center of Japan/Japon (11 aut., 12 aut.); Research Institute, International Medical Center of Japan/Japon (13 aut.); International Medical Center of Japan/Japon (14 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>American journal of medical genetics; ISSN 0148-7299; Coden AJMGDA; Etats-Unis; Da. 2005; Vol. 136A; No. 1; Pp. 52-57; Bibl. 25 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B23A; 002B05C02C</CC>
<FD>Identification; Exon; Polymorphisme; Peptidyl-dipeptidase A; Gène; Association; Syndrome respiratoire aigu sévère; Vietnam; Population; Coronavirus; Récepteur biologique; Génétique; Homme</FD>
<FG>Peptidyl-dipeptidases; Peptidases; Hydrolases; Enzyme; Virose; Infection; Asie; Coronaviridae; Nidovirales; Virus; Appareil respiratoire pathologie; Poumon pathologie</FG>
<ED>Identification; Exon; Polymorphism; Peptidyl-dipeptidase A; Gene; Association; Severe acute respiratory syndrome; Vietnam; Population; Coronavirus; Biological receptor; Genetics; Human</ED>
<EG>Peptidyl-dipeptidases; Peptidases; Hydrolases; Enzyme; Viral disease; Infection; Asia; Coronaviridae; Nidovirales; Virus; Respiratory disease; Lung disease</EG>
<SD>Identificación; Exón; Polimorfismo; Peptidyl-dipeptidase A; Gen; Asociación; Síndrome respiratorio agudo severo; Vietnam; Población; Coronavirus; Receptor biológico; Genética; Hombre</SD>
<LO>INIST-17405.354000132241680100</LO>
<ID>05-0314695</ID>
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