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The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia
The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the protamine 1 ( PRM1 ) and/or 2 ( PRM2 ) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied sin...
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| Published in: | Molecular biology reports 2016-08, Vol.43 (8), p.795-802 |
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| creator | Jamali, Shirin Karimian, Mohammad Nikzad, Hossein Aftabi, Younes |
| description | The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the
protamine 1
(
PRM1
) and/or
2
(
PRM2
) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.−190 C>A and g.298 G>C transversions that respectively occur in
PRM1
and
PRM2
genes with idiopathic oligozoospermia. In a case–control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.−190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR–RFLP methods respectively. An
in silico
analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in
PRM2
was not associated with oligozoospermia (
P
> 0.05). Whereas, −190CA and −190AA genotypes in
PRM1
gene were associated significantly with increased risk of oligozoospermia (
P
= 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for
PRM1
c.−190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 % CI 1.8060–5.8270,
P
= 0.0001). Further,
in silico
analysis revealed that c.−190 C>A transversion may alter transcription factor interactions with the promoter region of
PRM1
. The results revealed that the c.−190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia. |
| doi_str_mv | 10.1007/s11033-016-4017-8 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1808734015</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1808734015</sourcerecordid><originalsourceid>FETCH-LOGICAL-c471t-e9e6b54a15efaa2b510d2756cd7d067b259aa2c29c4d1000970986ac1ff0eb3e3</originalsourceid><addsrcrecordid>eNqNkcFO3DAQhq2KCraUB-BSWeLSS-hMYsfxpRJa0VIJqRd6thxnshg28dbOIgEv0HMfkSfBy9KqqoTEwbL1zze_7fkZO0Q4RgD1KSFCVRWAdSEAVdG8YTOUqiqEVs0Om0EFWIhG4h57l9IVAAhUcpftlarEWlZixu4vLom744dfv1EDn38-4VO0Y7qhmHwYuR_5KoYhTBR5pMVGCv1GmuzgR0K-oJG4Tdw-nSbvePTpmvfWTSHyPi_f-bCy02UuhaVfhLsQ0ori4O179ra3y0QHz_s--_Hl9GJ-Vpx___ptfnJeOKFwKkhT3UphUVJvbdlKhK5Usnad6qBWbSl1ll2pnejyWEAr0E1tHfY9UFtRtc8-bn3zu3-uKU1m8MnRcmlHCutksIFGVXmC8jWoFI0QWmf06D_0KqzjmD-SKcScAyrMFG4pF0NKkXqzin6w8dYgmE2IZhuiySGaTYimyT0fnp3X7UDd344_qWWg3AIpl8YFxX-uftH1EfrRp1g</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1811157171</pqid></control><display><type>article</type><title>The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia</title><source>Springer Link</source><creator>Jamali, Shirin ; Karimian, Mohammad ; Nikzad, Hossein ; Aftabi, Younes</creator><creatorcontrib>Jamali, Shirin ; Karimian, Mohammad ; Nikzad, Hossein ; Aftabi, Younes</creatorcontrib><description>The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the
protamine 1
(
PRM1
) and/or
2
(
PRM2
) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.−190 C>A and g.298 G>C transversions that respectively occur in
PRM1
and
PRM2
genes with idiopathic oligozoospermia. In a case–control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.−190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR–RFLP methods respectively. An
in silico
analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in
PRM2
was not associated with oligozoospermia (
P
> 0.05). Whereas, −190CA and −190AA genotypes in
PRM1
gene were associated significantly with increased risk of oligozoospermia (
P
= 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for
PRM1
c.−190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 % CI 1.8060–5.8270,
P
= 0.0001). Further,
in silico
analysis revealed that c.−190 C>A transversion may alter transcription factor interactions with the promoter region of
PRM1
. The results revealed that the c.−190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-016-4017-8</identifier><identifier>PMID: 27216534</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Animal Anatomy ; Animal Biochemistry ; Biomedical and Life Sciences ; Case-Control Studies ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype & phenotype ; Histology ; Humans ; Infertility ; Life Sciences ; Male ; Morphology ; Oligospermia - genetics ; Original Article ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Protamines - genetics ; Risk Factors ; Sequence Analysis, DNA ; Sperm</subject><ispartof>Molecular biology reports, 2016-08, Vol.43 (8), p.795-802</ispartof><rights>Springer Science+Business Media Dordrecht 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-e9e6b54a15efaa2b510d2756cd7d067b259aa2c29c4d1000970986ac1ff0eb3e3</citedby><cites>FETCH-LOGICAL-c471t-e9e6b54a15efaa2b510d2756cd7d067b259aa2c29c4d1000970986ac1ff0eb3e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27216534$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jamali, Shirin</creatorcontrib><creatorcontrib>Karimian, Mohammad</creatorcontrib><creatorcontrib>Nikzad, Hossein</creatorcontrib><creatorcontrib>Aftabi, Younes</creatorcontrib><title>The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the
protamine 1
(
PRM1
) and/or
2
(
PRM2
) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.−190 C>A and g.298 G>C transversions that respectively occur in
PRM1
and
PRM2
genes with idiopathic oligozoospermia. In a case–control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.−190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR–RFLP methods respectively. An
in silico
analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in
PRM2
was not associated with oligozoospermia (
P
> 0.05). Whereas, −190CA and −190AA genotypes in
PRM1
gene were associated significantly with increased risk of oligozoospermia (
P
= 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for
PRM1
c.−190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 % CI 1.8060–5.8270,
P
= 0.0001). Further,
in silico
analysis revealed that c.−190 C>A transversion may alter transcription factor interactions with the promoter region of
PRM1
. The results revealed that the c.−190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia.</description><subject>Adult</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Case-Control Studies</subject><subject>Gene Frequency</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype & phenotype</subject><subject>Histology</subject><subject>Humans</subject><subject>Infertility</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Morphology</subject><subject>Oligospermia - genetics</subject><subject>Original Article</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Promoter Regions, Genetic</subject><subject>Protamines - genetics</subject><subject>Risk Factors</subject><subject>Sequence Analysis, DNA</subject><subject>Sperm</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNqNkcFO3DAQhq2KCraUB-BSWeLSS-hMYsfxpRJa0VIJqRd6thxnshg28dbOIgEv0HMfkSfBy9KqqoTEwbL1zze_7fkZO0Q4RgD1KSFCVRWAdSEAVdG8YTOUqiqEVs0Om0EFWIhG4h57l9IVAAhUcpftlarEWlZixu4vLom744dfv1EDn38-4VO0Y7qhmHwYuR_5KoYhTBR5pMVGCv1GmuzgR0K-oJG4Tdw-nSbvePTpmvfWTSHyPi_f-bCy02UuhaVfhLsQ0ori4O179ra3y0QHz_s--_Hl9GJ-Vpx___ptfnJeOKFwKkhT3UphUVJvbdlKhK5Usnad6qBWbSl1ll2pnejyWEAr0E1tHfY9UFtRtc8-bn3zu3-uKU1m8MnRcmlHCutksIFGVXmC8jWoFI0QWmf06D_0KqzjmD-SKcScAyrMFG4pF0NKkXqzin6w8dYgmE2IZhuiySGaTYimyT0fnp3X7UDd344_qWWg3AIpl8YFxX-uftH1EfrRp1g</recordid><startdate>20160801</startdate><enddate>20160801</enddate><creator>Jamali, Shirin</creator><creator>Karimian, Mohammad</creator><creator>Nikzad, Hossein</creator><creator>Aftabi, Younes</creator><general>Springer Netherlands</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>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AO</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>M2P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20160801</creationdate><title>The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia</title><author>Jamali, Shirin ; Karimian, Mohammad ; Nikzad, Hossein ; Aftabi, Younes</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-e9e6b54a15efaa2b510d2756cd7d067b259aa2c29c4d1000970986ac1ff0eb3e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Case-Control Studies</topic><topic>Gene Frequency</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype & phenotype</topic><topic>Histology</topic><topic>Humans</topic><topic>Infertility</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Morphology</topic><topic>Oligospermia - genetics</topic><topic>Original Article</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Promoter Regions, Genetic</topic><topic>Protamines - genetics</topic><topic>Risk Factors</topic><topic>Sequence Analysis, DNA</topic><topic>Sperm</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jamali, Shirin</creatorcontrib><creatorcontrib>Karimian, Mohammad</creatorcontrib><creatorcontrib>Nikzad, Hossein</creatorcontrib><creatorcontrib>Aftabi, Younes</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>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</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)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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>Science Database</collection><collection>ProQuest Biological Science Journals</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 Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jamali, Shirin</au><au>Karimian, Mohammad</au><au>Nikzad, Hossein</au><au>Aftabi, Younes</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2016-08-01</date><risdate>2016</risdate><volume>43</volume><issue>8</issue><spage>795</spage><epage>802</epage><pages>795-802</pages><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the
protamine 1
(
PRM1
) and/or
2
(
PRM2
) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.−190 C>A and g.298 G>C transversions that respectively occur in
PRM1
and
PRM2
genes with idiopathic oligozoospermia. In a case–control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.−190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR–RFLP methods respectively. An
in silico
analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in
PRM2
was not associated with oligozoospermia (
P
> 0.05). Whereas, −190CA and −190AA genotypes in
PRM1
gene were associated significantly with increased risk of oligozoospermia (
P
= 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for
PRM1
c.−190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 % CI 1.8060–5.8270,
P
= 0.0001). Further,
in silico
analysis revealed that c.−190 C>A transversion may alter transcription factor interactions with the promoter region of
PRM1
. The results revealed that the c.−190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>27216534</pmid><doi>10.1007/s11033-016-4017-8</doi><tpages>8</tpages></addata></record> |
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| ispartof | Molecular biology reports, 2016-08, Vol.43 (8), p.795-802 |
| issn | 0301-4851 1573-4978 |
| language | eng |
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| source | Springer Link |
| subjects | Adult Animal Anatomy Animal Biochemistry Biomedical and Life Sciences Case-Control Studies Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype & phenotype Histology Humans Infertility Life Sciences Male Morphology Oligospermia - genetics Original Article Polymorphism, Single Nucleotide Promoter Regions, Genetic Protamines - genetics Risk Factors Sequence Analysis, DNA Sperm |
| title | The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia |
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