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 : 004B85 ( Main/Exploration ); précédent : 004B84; suivant : 004B86Identification 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 Part A [ 1552-4825 ] ; 2005-07-01.
English descriptors
- Teeft :
- Ace2, Ace2 cdna, Ace2 gene, Allele, Alternative exon, Anking, Anking region, Bronchial epithelial cells, Cdna, Chan, Coronavirus, Dbsnp database, Exon, Female genotype, Functional receptor, Genotype, Human lung, Intron, Original exon, Polymorphism, Primer, Receptor, Research institute, Respiratory syndrome, Sars, Sars cases, Sars patients, Single nucleotide polymorphisms, Small intestine, Snp, Syndrome, Testis, Untranslated exon.
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. © 2005 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.30779
Affiliations:
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Japan</wicri:noRegion></affiliation></author><author><name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>International Medical Center of Japan</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">136A</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="52">52</biblScope><biblScope unit="page" to="57">57</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-07-01">2005-07-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Ace2</term><term>Ace2 cdna</term><term>Ace2 gene</term><term>Allele</term><term>Alternative exon</term><term>Anking</term><term>Anking region</term><term>Bronchial epithelial cells</term><term>Cdna</term><term>Chan</term><term>Coronavirus</term><term>Dbsnp database</term><term>Exon</term><term>Female genotype</term><term>Functional receptor</term><term>Genotype</term><term>Human lung</term><term>Intron</term><term>Original exon</term><term>Polymorphism</term><term>Primer</term><term>Receptor</term><term>Research institute</term><term>Respiratory syndrome</term><term>Sars</term><term>Sars cases</term><term>Sars patients</term><term>Single nucleotide polymorphisms</term><term>Small intestine</term><term>Snp</term><term>Syndrome</term><term>Testis</term><term>Untranslated exon</term></keywords></textClass></profileDesc></teiHeader><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. © 2005 Wiley‐Liss, Inc.</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="Keicho, Naoto" sort="Keicho, Naoto" uniqKey="Keicho N" first="Naoto" last="Keicho">Naoto Keicho</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><name sortKey="Matsushita, Ikumi" sort="Matsushita, Ikumi" uniqKey="Matsushita I" first="Ikumi" last="Matsushita">Ikumi Matsushita</name><name sortKey="Sasazuki, Takehiko" sort="Sasazuki, Takehiko" uniqKey="Sasazuki T" first="Takehiko" last="Sasazuki">Takehiko Sasazuki</name><name sortKey="Yanai, Hideki" sort="Yanai, Hideki" uniqKey="Yanai H" first="Hideki" last="Yanai">Hideki Yanai</name></country><country name="Viêt Nam"><noRegion><name sortKey="Quy, Tran" sort="Quy, Tran" uniqKey="Quy T" first="Tran" last="Quy">Tran Quy</name></noRegion><name sortKey="Ban, Vo Van" sort="Ban, Vo Van" uniqKey="Ban V" first="Vo Van" last="Ban">Vo Van Ban</name><name sortKey="Ha, Le Dang" sort="Ha, Le Dang" uniqKey="Ha L" first="Le Dang" last="Ha">Le Dang Ha</name><name sortKey="Long, Hoang Thuy" sort="Long, Hoang Thuy" uniqKey="Long H" first="Hoang Thuy" last="Long">Hoang Thuy Long</name><name sortKey="Phi, Nguyen Chi" sort="Phi, Nguyen Chi" uniqKey="Phi N" first="Nguyen Chi" last="Phi">Nguyen Chi Phi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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