SrasV1, Main, Exploration, bibRecord, 004E16

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 : 004E16 ( Main/Exploration ); précédent : 004E15; suivant : 004E17

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 :

American journal of medical genetics [ 0148-7299 ] ; 2005.

RBID : Pascal:05-0314695

Descripteurs français

Pascal (Inist)
- Identification, Exon, Polymorphisme, Peptidyl-dipeptidase A, Gène, Association, Syndrome respiratoire aigu sévère, Vietnam, Population, Coronavirus, Récepteur biologique, Génétique, Homme.
Wicri :
- topic : Association, Génétique, Homme.

English descriptors

KwdEn :
- Association, Biological receptor, Coronavirus, Exon, Gene, Genetics, Human, Identification, Peptidyl-dipeptidase A, Polymorphism, Population, Severe acute respiratory syndrome, Vietnam.

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.

Affiliations:

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Le document en format XML

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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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<author><name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name>
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<sourceDesc><biblStruct><analytic><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>
<author><name sortKey="Itoyama, Satoru" sort="Itoyama, Satoru" uniqKey="Itoyama S" first="Satoru" last="Itoyama">Satoru Itoyama</name>
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<author><name sortKey="Keicho, Naoto" sort="Keicho, Naoto" uniqKey="Keicho N" first="Naoto" last="Keicho">Naoto Keicho</name>
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<author><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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<author><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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<author><name sortKey="Le Dang Ha" sort="Le Dang Ha" uniqKey="Le Dang Ha" last="Le Dang Ha">LE DANG HA</name>
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<s3>VNM</s3>
<sZ>7 aut.</sZ>
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<author><name sortKey="Vo Van Ban" sort="Vo Van Ban" uniqKey="Vo Van Ban" last="Vo Van Ban">VO VAN BAN</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Hanoi-French Hospital</s1>
<s3>VNM</s3>
<sZ>8 aut.</sZ>
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<wicri:noRegion>Hanoi-French Hospital</wicri:noRegion>
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<author><name sortKey="Matsushita, Ikumi" sort="Matsushita, Ikumi" uniqKey="Matsushita I" first="Ikumi" last="Matsushita">Ikumi Matsushita</name>
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<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
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<region type="région">Région de Kantō</region>
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<author><name sortKey="Yanai, Hideki" sort="Yanai, Hideki" uniqKey="Yanai H" first="Hideki" last="Yanai">Hideki Yanai</name>
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<author><name sortKey="Kirikae, Fumiko" sort="Kirikae, Fumiko" uniqKey="Kirikae F" first="Fumiko" last="Kirikae">Fumiko Kirikae</name>
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</affiliation>
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<author><name sortKey="Kirikae, Teruo" sort="Kirikae, Teruo" uniqKey="Kirikae T" first="Teruo" last="Kirikae">Teruo Kirikae</name>
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<s3>JPN</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Kuratsuji, Tadatoshi" sort="Kuratsuji, Tadatoshi" uniqKey="Kuratsuji T" first="Tadatoshi" last="Kuratsuji">Tadatoshi Kuratsuji</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Research Institute, International Medical Center of Japan</s1>
<s3>JPN</s3>
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<country>Japon</country>
<wicri:noRegion>Research Institute, International Medical Center of Japan</wicri:noRegion>
</affiliation>
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<author><name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name>
<affiliation wicri:level="1"><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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><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>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Identification</term>
<term>Exon</term>
<term>Polymorphisme</term>
<term>Peptidyl-dipeptidase A</term>
<term>Gène</term>
<term>Association</term>
<term>Syndrome respiratoire aigu sévère</term>
<term>Vietnam</term>
<term>Population</term>
<term>Coronavirus</term>
<term>Récepteur biologique</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Génétique</term>
<term>Homme</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>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
<li>Viêt Nam</li>
</country>
<region><li>Région de Kantō</li>
</region>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Japon"><region name="Région de Kantō"><name sortKey="Itoyama, Satoru" sort="Itoyama, Satoru" uniqKey="Itoyama S" first="Satoru" last="Itoyama">Satoru Itoyama</name>
</region>
<name sortKey="Hijikata, Minako" sort="Hijikata, Minako" uniqKey="Hijikata M" first="Minako" last="Hijikata">Minako Hijikata</name>
<name sortKey="Keicho, Naoto" sort="Keicho, Naoto" uniqKey="Keicho N" first="Naoto" last="Keicho">Naoto Keicho</name>
<name sortKey="Kirikae, Fumiko" sort="Kirikae, Fumiko" uniqKey="Kirikae F" first="Fumiko" last="Kirikae">Fumiko Kirikae</name>
<name sortKey="Kirikae, Teruo" sort="Kirikae, Teruo" uniqKey="Kirikae T" first="Teruo" last="Kirikae">Teruo Kirikae</name>
<name sortKey="Kuratsuji, Tadatoshi" sort="Kuratsuji, Tadatoshi" uniqKey="Kuratsuji T" first="Tadatoshi" last="Kuratsuji">Tadatoshi Kuratsuji</name>
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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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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

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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