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 : 000342Identification 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Association, Génétique, Homme.
English descriptors
- KwdEn :
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.
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<term>Genetics</term>
<term>Human</term>
<term>Identification</term>
<term>Peptidyl-dipeptidase A</term>
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<term>Severe acute respiratory syndrome</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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<fA61><s0>A</s0>
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<fA64 i1="01" i2="1"><s0>American journal of medical genetics</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><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>
</fC01>
<fC02 i1="01" i2="X"><s0>002B23A</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B05C02C</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Identification</s0>
<s5>09</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Identification</s0>
<s5>09</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Identificación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Exon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Exon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Exón</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Polymorphisme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Polymorphism</s0>
<s5>11</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Polimorfismo</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Peptidyl-dipeptidase A</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Peptidyl-dipeptidase A</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Peptidyl-dipeptidase A</s0>
<s2>FE</s2>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Gène</s0>
<s5>13</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Gene</s0>
<s5>13</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Gen</s0>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Association</s0>
<s5>14</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Association</s0>
<s5>14</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Asociación</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Syndrome respiratoire aigu sévère</s0>
<s2>NM</s2>
<s5>15</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Severe acute respiratory syndrome</s0>
<s2>NM</s2>
<s5>15</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Síndrome respiratorio agudo severo</s0>
<s2>NM</s2>
<s5>15</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Vietnam</s0>
<s2>NG</s2>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Vietnam</s0>
<s2>NG</s2>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Vietnam</s0>
<s2>NG</s2>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Population</s0>
<s5>18</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Population</s0>
<s5>18</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Población</s0>
<s5>18</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Coronavirus</s0>
<s2>NW</s2>
<s5>19</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Coronavirus</s0>
<s2>NW</s2>
<s5>19</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Coronavirus</s0>
<s2>NW</s2>
<s5>19</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Récepteur biologique</s0>
<s5>21</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Biological receptor</s0>
<s5>21</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Receptor biológico</s0>
<s5>21</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Génétique</s0>
<s5>22</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Genetics</s0>
<s5>22</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Genética</s0>
<s5>22</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Homme</s0>
<s5>23</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Human</s0>
<s5>23</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Hombre</s0>
<s5>23</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Peptidyl-dipeptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Peptidyl-dipeptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Peptidyl-dipeptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Peptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Peptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Peptidases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Virose</s0>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Viral disease</s0>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Virosis</s0>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Infection</s0>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Infection</s0>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Infección</s0>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Asie</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Asia</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Asia</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Coronaviridae</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Coronaviridae</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Coronaviridae</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Nidovirales</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Nidovirales</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Nidovirales</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Virus</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Virus</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Virus</s0>
<s2>NW</s2>
</fC07>
<fC07 i1="11" i2="X" l="FRE"><s0>Appareil respiratoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG"><s0>Respiratory disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>Aparato respiratorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="12" i2="X" l="FRE"><s0>Poumon pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="12" i2="X" l="ENG"><s0>Lung disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="12" i2="X" l="SPA"><s0>Pulmón patología</s0>
<s5>38</s5>
</fC07>
<fN21><s1>220</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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