Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures
Recent findings have highlighted the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of various obstetric complications. However, the underlying mechanisms are unknown. The M2 haplotype of the ANXA5 shows lower activity and less expression of ANX...
Gespeichert in:
| Veröffentlicht in: | Journal of human genetics 2019-05, Vol.64 (5), p.459-466 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 466 |
|---|---|
| container_issue | 5 |
| container_start_page | 459 |
| container_title | Journal of human genetics |
| container_volume | 64 |
| creator | Inagaki, Hidehito Ota, Sayuri Nishizawa, Haruki Miyamura, Hironori Nakahira, Kumiko Suzuki, Machiko Nishiyama, Sachie Kato, Takema Yanagihara, Itaru Kurahashi, Hiroki |
| description | Recent findings have highlighted the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of various obstetric complications. However, the underlying mechanisms are unknown. The M2 haplotype of the ANXA5 shows lower activity and less expression of ANXA5 mRNA. This gene promoter region has a motif that potentially forms a G-quadruplex structure. In vitro G-quadruplex propensity estimated by circular dichroism indicated that the M2 haplotype oligonucleotide manifested a decreased potential for G-quadruplex formation. In addition, in vivo G-quadruplex formation of the promoter region was evidenced by the presence of single-stranded DNA shown by sodium bisulfite treatment of placental genomic DNA. Comparative analysis indicated less potential in the M2 allele than the major allele. Promoter activity of the two haplotypes determined by luciferase reporter analysis correlated with the estimated G-quadruplex propensity. Our data lend support to the developing paradigm that genomic variation affects gene expression levels via DNA secondary structures leading to the disease susceptibility. |
| doi_str_mv | 10.1038/s10038-019-0578-4 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2185561914</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2185561914</sourcerecordid><originalsourceid>FETCH-LOGICAL-c419t-8f59b5bcdb31d1d9b54cc835fd2c710374d2e9512d509307827fde2a05b8268f3</originalsourceid><addsrcrecordid>eNpdkc1P3DAQxa2qCJaFP6CXylIvvRj8EW-S42r7QSUEF5C4WY49abNK4uBxUPe_x9vdcuA07_Cbp5n3CPkk-JXgqrpGwfNgXNSM67JixQeyEIXSTCr59PGfLpgWK3FGzhG3PNOylKfkTPGyXilZLMjLfYMJUuwcdWGY-s7Z1IWRWcTgOpvA0_Xd01rTKYYhJIh0Cv1uCHH60-GAdLA7atsWXKK_YQQKf6cIiNmCvnSWfrtbUwQXRm_jjmKKs0tzBi7ISWt7hMvjXJLHH98fNjfs9v7nr836lrlC1IlVra4b3TjfKOGFz7pwrlK69dKVOYKy8BJqLaTXvM5PVbJsPUjLdVPJVdWqJfl68M3nP8-AyQwdOuh7O0KY0UhRab0SdU5qSb68Q7dhjmO-zkjJtapzsGWmxIFyMSBGaM0UuyE_ZwQ3-1LMoRSTSzH7Usze-fPReW4G8G8b_1tQr1a9iNg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2205394357</pqid></control><display><type>article</type><title>Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Inagaki, Hidehito ; Ota, Sayuri ; Nishizawa, Haruki ; Miyamura, Hironori ; Nakahira, Kumiko ; Suzuki, Machiko ; Nishiyama, Sachie ; Kato, Takema ; Yanagihara, Itaru ; Kurahashi, Hiroki</creator><creatorcontrib>Inagaki, Hidehito ; Ota, Sayuri ; Nishizawa, Haruki ; Miyamura, Hironori ; Nakahira, Kumiko ; Suzuki, Machiko ; Nishiyama, Sachie ; Kato, Takema ; Yanagihara, Itaru ; Kurahashi, Hiroki</creatorcontrib><description>Recent findings have highlighted the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of various obstetric complications. However, the underlying mechanisms are unknown. The M2 haplotype of the ANXA5 shows lower activity and less expression of ANXA5 mRNA. This gene promoter region has a motif that potentially forms a G-quadruplex structure. In vitro G-quadruplex propensity estimated by circular dichroism indicated that the M2 haplotype oligonucleotide manifested a decreased potential for G-quadruplex formation. In addition, in vivo G-quadruplex formation of the promoter region was evidenced by the presence of single-stranded DNA shown by sodium bisulfite treatment of placental genomic DNA. Comparative analysis indicated less potential in the M2 allele than the major allele. Promoter activity of the two haplotypes determined by luciferase reporter analysis correlated with the estimated G-quadruplex propensity. Our data lend support to the developing paradigm that genomic variation affects gene expression levels via DNA secondary structures leading to the disease susceptibility.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-019-0578-4</identifier><identifier>PMID: 30796324</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Alleles ; Annexin A5 - biosynthesis ; Annexin A5 - genetics ; Bisulfite ; Circular dichroism ; Comparative analysis ; Deoxyribonucleic acid ; DNA ; DNA, Single-Stranded - genetics ; DNA, Single-Stranded - metabolism ; Etiology ; Female ; G-Quadruplexes ; Gene expression ; Gene Expression Regulation - physiology ; Haplotypes ; Humans ; Obstetrics ; Oligonucleotides ; Placenta ; Polymorphism, Genetic ; Pregnancy ; Pregnancy Complications - genetics ; Pregnancy Complications - metabolism ; Pregnancy Complications - pathology ; Promoter Regions, Genetic ; Single-stranded DNA</subject><ispartof>Journal of human genetics, 2019-05, Vol.64 (5), p.459-466</ispartof><rights>2019© The Author(s) under exclusive licence to The Japan Society of Human Genetics 2019</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-8f59b5bcdb31d1d9b54cc835fd2c710374d2e9512d509307827fde2a05b8268f3</citedby><cites>FETCH-LOGICAL-c419t-8f59b5bcdb31d1d9b54cc835fd2c710374d2e9512d509307827fde2a05b8268f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30796324$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Inagaki, Hidehito</creatorcontrib><creatorcontrib>Ota, Sayuri</creatorcontrib><creatorcontrib>Nishizawa, Haruki</creatorcontrib><creatorcontrib>Miyamura, Hironori</creatorcontrib><creatorcontrib>Nakahira, Kumiko</creatorcontrib><creatorcontrib>Suzuki, Machiko</creatorcontrib><creatorcontrib>Nishiyama, Sachie</creatorcontrib><creatorcontrib>Kato, Takema</creatorcontrib><creatorcontrib>Yanagihara, Itaru</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><title>Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>Recent findings have highlighted the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of various obstetric complications. However, the underlying mechanisms are unknown. The M2 haplotype of the ANXA5 shows lower activity and less expression of ANXA5 mRNA. This gene promoter region has a motif that potentially forms a G-quadruplex structure. In vitro G-quadruplex propensity estimated by circular dichroism indicated that the M2 haplotype oligonucleotide manifested a decreased potential for G-quadruplex formation. In addition, in vivo G-quadruplex formation of the promoter region was evidenced by the presence of single-stranded DNA shown by sodium bisulfite treatment of placental genomic DNA. Comparative analysis indicated less potential in the M2 allele than the major allele. Promoter activity of the two haplotypes determined by luciferase reporter analysis correlated with the estimated G-quadruplex propensity. Our data lend support to the developing paradigm that genomic variation affects gene expression levels via DNA secondary structures leading to the disease susceptibility.</description><subject>Alleles</subject><subject>Annexin A5 - biosynthesis</subject><subject>Annexin A5 - genetics</subject><subject>Bisulfite</subject><subject>Circular dichroism</subject><subject>Comparative analysis</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA, Single-Stranded - genetics</subject><subject>DNA, Single-Stranded - metabolism</subject><subject>Etiology</subject><subject>Female</subject><subject>G-Quadruplexes</subject><subject>Gene expression</subject><subject>Gene Expression Regulation - physiology</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Obstetrics</subject><subject>Oligonucleotides</subject><subject>Placenta</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Pregnancy Complications - genetics</subject><subject>Pregnancy Complications - metabolism</subject><subject>Pregnancy Complications - pathology</subject><subject>Promoter Regions, Genetic</subject><subject>Single-stranded DNA</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkc1P3DAQxa2qCJaFP6CXylIvvRj8EW-S42r7QSUEF5C4WY49abNK4uBxUPe_x9vdcuA07_Cbp5n3CPkk-JXgqrpGwfNgXNSM67JixQeyEIXSTCr59PGfLpgWK3FGzhG3PNOylKfkTPGyXilZLMjLfYMJUuwcdWGY-s7Z1IWRWcTgOpvA0_Xd01rTKYYhJIh0Cv1uCHH60-GAdLA7atsWXKK_YQQKf6cIiNmCvnSWfrtbUwQXRm_jjmKKs0tzBi7ISWt7hMvjXJLHH98fNjfs9v7nr836lrlC1IlVra4b3TjfKOGFz7pwrlK69dKVOYKy8BJqLaTXvM5PVbJsPUjLdVPJVdWqJfl68M3nP8-AyQwdOuh7O0KY0UhRab0SdU5qSb68Q7dhjmO-zkjJtapzsGWmxIFyMSBGaM0UuyE_ZwQ3-1LMoRSTSzH7Usze-fPReW4G8G8b_1tQr1a9iNg</recordid><startdate>20190501</startdate><enddate>20190501</enddate><creator>Inagaki, Hidehito</creator><creator>Ota, Sayuri</creator><creator>Nishizawa, Haruki</creator><creator>Miyamura, Hironori</creator><creator>Nakahira, Kumiko</creator><creator>Suzuki, Machiko</creator><creator>Nishiyama, Sachie</creator><creator>Kato, Takema</creator><creator>Yanagihara, Itaru</creator><creator>Kurahashi, Hiroki</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20190501</creationdate><title>Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures</title><author>Inagaki, Hidehito ; Ota, Sayuri ; Nishizawa, Haruki ; Miyamura, Hironori ; Nakahira, Kumiko ; Suzuki, Machiko ; Nishiyama, Sachie ; Kato, Takema ; Yanagihara, Itaru ; Kurahashi, Hiroki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-8f59b5bcdb31d1d9b54cc835fd2c710374d2e9512d509307827fde2a05b8268f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Alleles</topic><topic>Annexin A5 - biosynthesis</topic><topic>Annexin A5 - genetics</topic><topic>Bisulfite</topic><topic>Circular dichroism</topic><topic>Comparative analysis</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA, Single-Stranded - genetics</topic><topic>DNA, Single-Stranded - metabolism</topic><topic>Etiology</topic><topic>Female</topic><topic>G-Quadruplexes</topic><topic>Gene expression</topic><topic>Gene Expression Regulation - physiology</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Obstetrics</topic><topic>Oligonucleotides</topic><topic>Placenta</topic><topic>Polymorphism, Genetic</topic><topic>Pregnancy</topic><topic>Pregnancy Complications - genetics</topic><topic>Pregnancy Complications - metabolism</topic><topic>Pregnancy Complications - pathology</topic><topic>Promoter Regions, Genetic</topic><topic>Single-stranded DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Inagaki, Hidehito</creatorcontrib><creatorcontrib>Ota, Sayuri</creatorcontrib><creatorcontrib>Nishizawa, Haruki</creatorcontrib><creatorcontrib>Miyamura, Hironori</creatorcontrib><creatorcontrib>Nakahira, Kumiko</creatorcontrib><creatorcontrib>Suzuki, Machiko</creatorcontrib><creatorcontrib>Nishiyama, Sachie</creatorcontrib><creatorcontrib>Kato, Takema</creatorcontrib><creatorcontrib>Yanagihara, Itaru</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Inagaki, Hidehito</au><au>Ota, Sayuri</au><au>Nishizawa, Haruki</au><au>Miyamura, Hironori</au><au>Nakahira, Kumiko</au><au>Suzuki, Machiko</au><au>Nishiyama, Sachie</au><au>Kato, Takema</au><au>Yanagihara, Itaru</au><au>Kurahashi, Hiroki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2019-05-01</date><risdate>2019</risdate><volume>64</volume><issue>5</issue><spage>459</spage><epage>466</epage><pages>459-466</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Recent findings have highlighted the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of various obstetric complications. However, the underlying mechanisms are unknown. The M2 haplotype of the ANXA5 shows lower activity and less expression of ANXA5 mRNA. This gene promoter region has a motif that potentially forms a G-quadruplex structure. In vitro G-quadruplex propensity estimated by circular dichroism indicated that the M2 haplotype oligonucleotide manifested a decreased potential for G-quadruplex formation. In addition, in vivo G-quadruplex formation of the promoter region was evidenced by the presence of single-stranded DNA shown by sodium bisulfite treatment of placental genomic DNA. Comparative analysis indicated less potential in the M2 allele than the major allele. Promoter activity of the two haplotypes determined by luciferase reporter analysis correlated with the estimated G-quadruplex propensity. Our data lend support to the developing paradigm that genomic variation affects gene expression levels via DNA secondary structures leading to the disease susceptibility.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>30796324</pmid><doi>10.1038/s10038-019-0578-4</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1434-5161 |
| ispartof | Journal of human genetics, 2019-05, Vol.64 (5), p.459-466 |
| issn | 1434-5161 1435-232X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2185561914 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Alleles Annexin A5 - biosynthesis Annexin A5 - genetics Bisulfite Circular dichroism Comparative analysis Deoxyribonucleic acid DNA DNA, Single-Stranded - genetics DNA, Single-Stranded - metabolism Etiology Female G-Quadruplexes Gene expression Gene Expression Regulation - physiology Haplotypes Humans Obstetrics Oligonucleotides Placenta Polymorphism, Genetic Pregnancy Pregnancy Complications - genetics Pregnancy Complications - metabolism Pregnancy Complications - pathology Promoter Regions, Genetic Single-stranded DNA |
| title | Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-13T18%3A33%3A00IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Obstetric%20complication-associated%20ANXA5%20promoter%20polymorphisms%20may%20affect%20gene%20expression%20via%20DNA%20secondary%20structures&rft.jtitle=Journal%20of%20human%20genetics&rft.au=Inagaki,%20Hidehito&rft.date=2019-05-01&rft.volume=64&rft.issue=5&rft.spage=459&rft.epage=466&rft.pages=459-466&rft.issn=1434-5161&rft.eissn=1435-232X&rft_id=info:doi/10.1038/s10038-019-0578-4&rft_dat=%3Cproquest_cross%3E2185561914%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2205394357&rft_id=info:pmid/30796324&rfr_iscdi=true |