Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies
Purpose Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene...
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| Veröffentlicht in: | Archives of gynecology and obstetrics 2020-06, Vol.301 (6), p.1455-1461 |
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| creator | Wang, Chao Xing, Qiong Song, Bing Li, Guanjian Xu, Zuying Wang, Tianjuan Chen, Yujie Xu, Yuping Cao, Yunxia |
| description | Purpose
Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene methylation and MDA remains to be understood.
Methods
Endometrial tissues were collected from patients with septate (
n
= 23) or normal uterus (
n
= 28). We detected the methylation status of CpG sites and mRNA levels of nine candidate genes, including
HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4
, and
H19
, using MethyTarget and quantitative real-time polynucleotide chain reaction (qRT-PCR), respectively
Results
Compared with healthy controls, we detected three hypomethylated CpG sites (
P
0.05).
Conclusions
Aberrant DNA methylation within the promoter of
PAX2
may contribute to the development of MDA by regulating its gene expression. However, the methylation status of
HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4,
and
H19
, may not contribute to the development of MDA. |
| doi_str_mv | 10.1007/s00404-020-05539-w |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2392463588</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2392463588</sourcerecordid><originalsourceid>FETCH-LOGICAL-c375t-5fe44018a495de8b2372ceb7419fd26ba06dab9c3fc4e6a1846b11af973221bd3</originalsourceid><addsrcrecordid>eNp9kMtu1DAUhq2Kig4DL8ACWWLTTeD4mmQ5GiggDW0XIFXdWE5ywniUy9R2NOq7sePF8JAWpC5Y-Uj-_v8cfYS8ZvCOAeTvA4AEmQGHDJQSZXY4IQsmBc8gZ-wZWUB5nEHnZ-RFCDsAxotCPydnggvQKbMgt6sKvbdDpB8uV7THuL3vbHTjQN1A4xbp9eqG070f-zGipy5QG8JYOxuxoQcXt_Trr59dh97ZgTZTHakdxt52DsNLctraLuCrh3dJvl98_Lb-nG2uPn1ZrzZZLXIVM9WilMAKK0vVYFFxkfMaq1yysm24rizoxlZlLdpaoraskLpizLZlLjhnVSOW5HzuTVfeTRii6V2osevsgOMUDBcll1qookjo2yfobpz8kK4zXILmipdKJ4rPVO3HEDy2Zu9db_29YWCO5s1s3iTz5o95c0ihNw_VU9Vj8zfyqDoBYgZC-hp-oP-3-z-1vwEVCY7W</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2406252956</pqid></control><display><type>article</type><title>Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Wang, Chao ; Xing, Qiong ; Song, Bing ; Li, Guanjian ; Xu, Zuying ; Wang, Tianjuan ; Chen, Yujie ; Xu, Yuping ; Cao, Yunxia</creator><creatorcontrib>Wang, Chao ; Xing, Qiong ; Song, Bing ; Li, Guanjian ; Xu, Zuying ; Wang, Tianjuan ; Chen, Yujie ; Xu, Yuping ; Cao, Yunxia</creatorcontrib><description>Purpose
Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene methylation and MDA remains to be understood.
Methods
Endometrial tissues were collected from patients with septate (
n
= 23) or normal uterus (
n
= 28). We detected the methylation status of CpG sites and mRNA levels of nine candidate genes, including
HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4
, and
H19
, using MethyTarget and quantitative real-time polynucleotide chain reaction (qRT-PCR), respectively
Results
Compared with healthy controls, we detected three hypomethylated CpG sites (
P
< 0.05) and increased mRNA levels of
PAX2
(
P
< 0.05) in individuals with MDA.
HOXA10, EMX2, TP63, ITGB3, LHX1
, and
GSC
had 1, 1, 2, 1, 5, and 2 differentially methylated CpG sites (
P
< 0.05), respectively, but there were no significant differences in their mRNA levels (
P
> 0.05).
WNT4
and
H19
did not show differences in methylation (
P
> 0.05) and mRNA levels (
P
> 0.05).
Conclusions
Aberrant DNA methylation within the promoter of
PAX2
may contribute to the development of MDA by regulating its gene expression. However, the methylation status of
HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4,
and
H19
, may not contribute to the development of MDA.</description><identifier>ISSN: 0932-0067</identifier><identifier>EISSN: 1432-0711</identifier><identifier>DOI: 10.1007/s00404-020-05539-w</identifier><identifier>PMID: 32306055</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Deoxyribonucleic acid ; DNA ; DNA methylation ; DNA Methylation - genetics ; Endocrinology ; Female ; Gene expression ; General Gynecology ; Gynecology ; Human Genetics ; Humans ; Medicine ; Medicine & Public Health ; Mullerian Ducts - abnormalities ; Mutation ; Obstetrics/Perinatology/Midwifery ; PAX2 Transcription Factor - genetics ; Uterus</subject><ispartof>Archives of gynecology and obstetrics, 2020-06, Vol.301 (6), p.1455-1461</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-5fe44018a495de8b2372ceb7419fd26ba06dab9c3fc4e6a1846b11af973221bd3</citedby><cites>FETCH-LOGICAL-c375t-5fe44018a495de8b2372ceb7419fd26ba06dab9c3fc4e6a1846b11af973221bd3</cites><orcidid>0000-0002-1625-6524</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00404-020-05539-w$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00404-020-05539-w$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32306055$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Chao</creatorcontrib><creatorcontrib>Xing, Qiong</creatorcontrib><creatorcontrib>Song, Bing</creatorcontrib><creatorcontrib>Li, Guanjian</creatorcontrib><creatorcontrib>Xu, Zuying</creatorcontrib><creatorcontrib>Wang, Tianjuan</creatorcontrib><creatorcontrib>Chen, Yujie</creatorcontrib><creatorcontrib>Xu, Yuping</creatorcontrib><creatorcontrib>Cao, Yunxia</creatorcontrib><title>Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies</title><title>Archives of gynecology and obstetrics</title><addtitle>Arch Gynecol Obstet</addtitle><addtitle>Arch Gynecol Obstet</addtitle><description>Purpose
Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene methylation and MDA remains to be understood.
Methods
Endometrial tissues were collected from patients with septate (
n
= 23) or normal uterus (
n
= 28). We detected the methylation status of CpG sites and mRNA levels of nine candidate genes, including
HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4
, and
H19
, using MethyTarget and quantitative real-time polynucleotide chain reaction (qRT-PCR), respectively
Results
Compared with healthy controls, we detected three hypomethylated CpG sites (
P
< 0.05) and increased mRNA levels of
PAX2
(
P
< 0.05) in individuals with MDA.
HOXA10, EMX2, TP63, ITGB3, LHX1
, and
GSC
had 1, 1, 2, 1, 5, and 2 differentially methylated CpG sites (
P
< 0.05), respectively, but there were no significant differences in their mRNA levels (
P
> 0.05).
WNT4
and
H19
did not show differences in methylation (
P
> 0.05) and mRNA levels (
P
> 0.05).
Conclusions
Aberrant DNA methylation within the promoter of
PAX2
may contribute to the development of MDA by regulating its gene expression. However, the methylation status of
HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4,
and
H19
, may not contribute to the development of MDA.</description><subject>Adult</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA methylation</subject><subject>DNA Methylation - genetics</subject><subject>Endocrinology</subject><subject>Female</subject><subject>Gene expression</subject><subject>General Gynecology</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mullerian Ducts - abnormalities</subject><subject>Mutation</subject><subject>Obstetrics/Perinatology/Midwifery</subject><subject>PAX2 Transcription Factor - genetics</subject><subject>Uterus</subject><issn>0932-0067</issn><issn>1432-0711</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kMtu1DAUhq2Kig4DL8ACWWLTTeD4mmQ5GiggDW0XIFXdWE5ywniUy9R2NOq7sePF8JAWpC5Y-Uj-_v8cfYS8ZvCOAeTvA4AEmQGHDJQSZXY4IQsmBc8gZ-wZWUB5nEHnZ-RFCDsAxotCPydnggvQKbMgt6sKvbdDpB8uV7THuL3vbHTjQN1A4xbp9eqG070f-zGipy5QG8JYOxuxoQcXt_Trr59dh97ZgTZTHakdxt52DsNLctraLuCrh3dJvl98_Lb-nG2uPn1ZrzZZLXIVM9WilMAKK0vVYFFxkfMaq1yysm24rizoxlZlLdpaoraskLpizLZlLjhnVSOW5HzuTVfeTRii6V2osevsgOMUDBcll1qookjo2yfobpz8kK4zXILmipdKJ4rPVO3HEDy2Zu9db_29YWCO5s1s3iTz5o95c0ihNw_VU9Vj8zfyqDoBYgZC-hp-oP-3-z-1vwEVCY7W</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>Wang, Chao</creator><creator>Xing, Qiong</creator><creator>Song, Bing</creator><creator>Li, Guanjian</creator><creator>Xu, Zuying</creator><creator>Wang, Tianjuan</creator><creator>Chen, Yujie</creator><creator>Xu, Yuping</creator><creator>Cao, Yunxia</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</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>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-1625-6524</orcidid></search><sort><creationdate>20200601</creationdate><title>Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies</title><author>Wang, Chao ; Xing, Qiong ; Song, Bing ; Li, Guanjian ; Xu, Zuying ; Wang, Tianjuan ; Chen, Yujie ; Xu, Yuping ; Cao, Yunxia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-5fe44018a495de8b2372ceb7419fd26ba06dab9c3fc4e6a1846b11af973221bd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA methylation</topic><topic>DNA Methylation - genetics</topic><topic>Endocrinology</topic><topic>Female</topic><topic>Gene expression</topic><topic>General Gynecology</topic><topic>Gynecology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mullerian Ducts - abnormalities</topic><topic>Mutation</topic><topic>Obstetrics/Perinatology/Midwifery</topic><topic>PAX2 Transcription Factor - genetics</topic><topic>Uterus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Chao</creatorcontrib><creatorcontrib>Xing, Qiong</creatorcontrib><creatorcontrib>Song, Bing</creatorcontrib><creatorcontrib>Li, Guanjian</creatorcontrib><creatorcontrib>Xu, Zuying</creatorcontrib><creatorcontrib>Wang, Tianjuan</creatorcontrib><creatorcontrib>Chen, Yujie</creatorcontrib><creatorcontrib>Xu, Yuping</creatorcontrib><creatorcontrib>Cao, Yunxia</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>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</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of gynecology and obstetrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Chao</au><au>Xing, Qiong</au><au>Song, Bing</au><au>Li, Guanjian</au><au>Xu, Zuying</au><au>Wang, Tianjuan</au><au>Chen, Yujie</au><au>Xu, Yuping</au><au>Cao, Yunxia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies</atitle><jtitle>Archives of gynecology and obstetrics</jtitle><stitle>Arch Gynecol Obstet</stitle><addtitle>Arch Gynecol Obstet</addtitle><date>2020-06-01</date><risdate>2020</risdate><volume>301</volume><issue>6</issue><spage>1455</spage><epage>1461</epage><pages>1455-1461</pages><issn>0932-0067</issn><eissn>1432-0711</eissn><abstract>Purpose
Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene methylation and MDA remains to be understood.
Methods
Endometrial tissues were collected from patients with septate (
n
= 23) or normal uterus (
n
= 28). We detected the methylation status of CpG sites and mRNA levels of nine candidate genes, including
HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4
, and
H19
, using MethyTarget and quantitative real-time polynucleotide chain reaction (qRT-PCR), respectively
Results
Compared with healthy controls, we detected three hypomethylated CpG sites (
P
< 0.05) and increased mRNA levels of
PAX2
(
P
< 0.05) in individuals with MDA.
HOXA10, EMX2, TP63, ITGB3, LHX1
, and
GSC
had 1, 1, 2, 1, 5, and 2 differentially methylated CpG sites (
P
< 0.05), respectively, but there were no significant differences in their mRNA levels (
P
> 0.05).
WNT4
and
H19
did not show differences in methylation (
P
> 0.05) and mRNA levels (
P
> 0.05).
Conclusions
Aberrant DNA methylation within the promoter of
PAX2
may contribute to the development of MDA by regulating its gene expression. However, the methylation status of
HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4,
and
H19
, may not contribute to the development of MDA.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>32306055</pmid><doi>10.1007/s00404-020-05539-w</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-1625-6524</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0932-0067 |
| ispartof | Archives of gynecology and obstetrics, 2020-06, Vol.301 (6), p.1455-1461 |
| issn | 0932-0067 1432-0711 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2392463588 |
| source | MEDLINE; SpringerNature Journals |
| subjects | Adult Deoxyribonucleic acid DNA DNA methylation DNA Methylation - genetics Endocrinology Female Gene expression General Gynecology Gynecology Human Genetics Humans Medicine Medicine & Public Health Mullerian Ducts - abnormalities Mutation Obstetrics/Perinatology/Midwifery PAX2 Transcription Factor - genetics Uterus |
| title | Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies |
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