Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure

SLC26A8 is an anion transporter that is solely expressed in the testes. It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gen...

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Veröffentlicht in:	Molecular human reproduction 2005-02, Vol.11 (2), p.129-132
Hauptverfasser:	Mäkelä, S., Eklund, R., Lähdetie, J., Mikkola, M., Hovatta, O., Kere, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Substitution Anion Transport Proteins Antiporters - genetics Biological and medical sciences DNA Mutational Analysis Drosophila Embryology: invertebrates and vertebrates. Teratology Fundamental and applied biological sciences. Psychology Gene Frequency Humans Infertility, Male - genetics Male Medicin och hälsovetenskap Middle Aged polymorphism Polymorphism, Single-Stranded Conformational SLC26 gene family spermatogenesis Spermatogenesis - genetics TAT1
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container_title	Molecular human reproduction
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creator	Mäkelä, S. Eklund, R. Lähdetie, J. Mikkola, M. Hovatta, O. Kere, J.
description	SLC26A8 is an anion transporter that is solely expressed in the testes. It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gene has a role in human male infertility, we performed mutational analysis in the coding region of the SLC26A8 gene in 83 male infertility patients and two groups of controls using single-strand conformational polymorphism and direct sequencing methods. We found six novel coding sequence variations, of which five lead to amino acid substitutions. All variants were found with similar frequencies in both patients and controls, thus suggesting that none of them may be causally associated with infertility. We conclude that the SLC26A8 mutations are not a common cause of male infertility.
doi_str_mv	10.1093/molehr/gah140
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It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gene has a role in human male infertility, we performed mutational analysis in the coding region of the SLC26A8 gene in 83 male infertility patients and two groups of controls using single-strand conformational polymorphism and direct sequencing methods. We found six novel coding sequence variations, of which five lead to amino acid substitutions. All variants were found with similar frequencies in both patients and controls, thus suggesting that none of them may be causally associated with infertility. 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Psychology ; Gene Frequency ; Humans ; Infertility, Male - genetics ; Male ; Medicin och hälsovetenskap ; Middle Aged ; polymorphism ; Polymorphism, Single-Stranded Conformational ; SLC26 gene family ; spermatogenesis ; Spermatogenesis - genetics ; TAT1</subject><ispartof>Molecular human reproduction, 2005-02, Vol.11 (2), p.129-132</ispartof><rights>2005 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Feb 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c544t-ff59b25f04facab2a48557f25cd55a2fe57950ab5648e7e8ec54080ec87494b23</citedby><cites>FETCH-LOGICAL-c544t-ff59b25f04facab2a48557f25cd55a2fe57950ab5648e7e8ec54080ec87494b23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16616543$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15579655$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:110891232$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Mäkelä, S.</creatorcontrib><creatorcontrib>Eklund, R.</creatorcontrib><creatorcontrib>Lähdetie, J.</creatorcontrib><creatorcontrib>Mikkola, M.</creatorcontrib><creatorcontrib>Hovatta, O.</creatorcontrib><creatorcontrib>Kere, J.</creatorcontrib><title>Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure</title><title>Molecular human reproduction</title><addtitle>Mol. Hum. Reprod</addtitle><description>SLC26A8 is an anion transporter that is solely expressed in the testes. It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gene has a role in human male infertility, we performed mutational analysis in the coding region of the SLC26A8 gene in 83 male infertility patients and two groups of controls using single-strand conformational polymorphism and direct sequencing methods. We found six novel coding sequence variations, of which five lead to amino acid substitutions. All variants were found with similar frequencies in both patients and controls, thus suggesting that none of them may be causally associated with infertility. We conclude that the SLC26A8 mutations are not a common cause of male infertility.</description><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>Anion Transport Proteins</subject><subject>Antiporters - genetics</subject><subject>Biological and medical sciences</subject><subject>DNA Mutational Analysis</subject><subject>Drosophila</subject><subject>Embryology: invertebrates and vertebrates. Teratology</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Frequency</subject><subject>Humans</subject><subject>Infertility, Male - genetics</subject><subject>Male</subject><subject>Medicin och hälsovetenskap</subject><subject>Middle Aged</subject><subject>polymorphism</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>SLC26 gene family</subject><subject>spermatogenesis</subject><subject>Spermatogenesis - genetics</subject><subject>TAT1</subject><issn>1360-9947</issn><issn>1460-2407</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkkFv1DAQhSMEoqVw5IosJLiF2o6dxNzKirKgRRwoEurFmiTjrtsk3tqO6B7553i1oYuQEBd7ZH9vxk9-Wfac0TeMquJ0cD2u_ekVrJmgD7JjJkqac0Grh6kuUq2UqI6yJyFcU8oqLuvH2RGTslKllMfZz89ThGjdCD2BtGyDDcQZEtdI1tMAI_m6WvDyrCZXOOJbgndtP4XEEwgESAtjZzuISIzzZIAeiR0N-mh7G7ekm5BERzbeDuC3JGzQDxBdamVbYsD2k8en2SMDfcBn836SfTt_f7FY5qsvHz4uzlZ5K4WIuTFSNVwaKgy00HAQdTJhuGw7KYEbTI4khUaWosYKa0wyWlNs60oo0fDiJMv3fcMP3EyNnh-lHVg9H92kCrWsuZIs8eqf_Ma77iD6LWSM1orxYjfr9V6bwNsJQ9SDDS32PYzopqDLSnCuivK_IKtqyku5A1_-BV67yacPC5pzySmr1R8WW-9C8GjuH82o3qVF79Oi92lJ_Iu56dQM2B3oOR4JeDUDEFrojYexteHAlSUrpSgOg22IeHd_D_4mWS0qqZffL_WnJT1_V1YX-rL4BfIB2wg</recordid><startdate>20050201</startdate><enddate>20050201</enddate><creator>Mäkelä, S.</creator><creator>Eklund, R.</creator><creator>Lähdetie, J.</creator><creator>Mikkola, M.</creator><creator>Hovatta, O.</creator><creator>Kere, J.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</scope><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>7QP</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope></search><sort><creationdate>20050201</creationdate><title>Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure</title><author>Mäkelä, S. ; Eklund, R. ; Lähdetie, J. ; Mikkola, M. ; Hovatta, O. ; Kere, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c544t-ff59b25f04facab2a48557f25cd55a2fe57950ab5648e7e8ec54080ec87494b23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>Anion Transport Proteins</topic><topic>Antiporters - genetics</topic><topic>Biological and medical sciences</topic><topic>DNA Mutational Analysis</topic><topic>Drosophila</topic><topic>Embryology: invertebrates and vertebrates. Teratology</topic><topic>Fundamental and applied biological sciences. 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source	MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection
subjects	Adult Amino Acid Substitution Anion Transport Proteins Antiporters - genetics Biological and medical sciences DNA Mutational Analysis Drosophila Embryology: invertebrates and vertebrates. Teratology Fundamental and applied biological sciences. Psychology Gene Frequency Humans Infertility, Male - genetics Male Medicin och hälsovetenskap Middle Aged polymorphism Polymorphism, Single-Stranded Conformational SLC26 gene family spermatogenesis Spermatogenesis - genetics TAT1
title	Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure
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