Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein
Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no CATSPER gene has been identified as cau...
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| Veröffentlicht in: | American journal of human genetics 2009-04, Vol.84 (4), p.505-510 |
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| creator | Avenarius, Matthew R. Hildebrand, Michael S. Zhang, Yuzhou Meyer, Nicole C. Smith, Luke L.H. Kahrizi, Kimia Najmabadi, Hossein Smith, Richard J.H. |
| description | Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no
CATSPER gene has been identified as causative for human male infertility, male mice deficient for members of the
CatSper gene family are infertile. In this study, we used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-recessive male infertility. Autozygosity by descent was demonstrated in both families for a ∼11 cM region on chromosome 11q13.1, flanked by markers D11S1765 and D11S4139. This region contains the human
CATSPER1 gene. Denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequence analysis of
CATSPER1 in affected family members revealed two separate insertion mutations (c.539-540insT and c.948-949insATGGC) that are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317MetfsX18). CATSPER1 is one of four members of the sperm-specific CATSPER voltage-gated calcium channel family known to be essential for normal male fertility in mice. These results suggest that
CATSPER1 is also essential for normal male fertility in humans. |
| doi_str_mv | 10.1016/j.ajhg.2009.03.004 |
| format | Article |
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CATSPER gene has been identified as causative for human male infertility, male mice deficient for members of the
CatSper gene family are infertile. In this study, we used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-recessive male infertility. Autozygosity by descent was demonstrated in both families for a ∼11 cM region on chromosome 11q13.1, flanked by markers D11S1765 and D11S4139. This region contains the human
CATSPER1 gene. Denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequence analysis of
CATSPER1 in affected family members revealed two separate insertion mutations (c.539-540insT and c.948-949insATGGC) that are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317MetfsX18). CATSPER1 is one of four members of the sperm-specific CATSPER voltage-gated calcium channel family known to be essential for normal male fertility in mice. These results suggest that
CATSPER1 is also essential for normal male fertility in humans.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2009.03.004</identifier><identifier>PMID: 19344877</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Birth control ; Calcium Channels - deficiency ; Calcium Channels - genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 11 - genetics ; Consanguinity ; Disease Models, Animal ; DNA - genetics ; DNA Mutational Analysis ; Female ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genes, Recessive ; Genetics of eukaryotes. Biological and molecular evolution ; Gynecology. Andrology. Obstetrics ; Humans ; Infertility, Male - genetics ; Iran ; Lod Score ; Male ; Medical genetics ; Medical sciences ; Mice ; Molecular and cellular biology ; Mutagenesis, Insertional ; Mutation ; Pedigree ; Sterility. Assisted procreation</subject><ispartof>American journal of human genetics, 2009-04, Vol.84 (4), p.505-510</ispartof><rights>2009 The American Society of Human Genetics</rights><rights>2009 INIST-CNRS</rights><rights>2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2009 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c580t-7e28f67715aed42ecb221b1d69205c19e30b53c11199837b91559333489a9f643</citedby><cites>FETCH-LOGICAL-c580t-7e28f67715aed42ecb221b1d69205c19e30b53c11199837b91559333489a9f643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667975/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929709001013$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21375599$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19344877$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Avenarius, Matthew R.</creatorcontrib><creatorcontrib>Hildebrand, Michael S.</creatorcontrib><creatorcontrib>Zhang, Yuzhou</creatorcontrib><creatorcontrib>Meyer, Nicole C.</creatorcontrib><creatorcontrib>Smith, Luke L.H.</creatorcontrib><creatorcontrib>Kahrizi, Kimia</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Smith, Richard J.H.</creatorcontrib><title>Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no
CATSPER gene has been identified as causative for human male infertility, male mice deficient for members of the
CatSper gene family are infertile. In this study, we used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-recessive male infertility. Autozygosity by descent was demonstrated in both families for a ∼11 cM region on chromosome 11q13.1, flanked by markers D11S1765 and D11S4139. This region contains the human
CATSPER1 gene. Denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequence analysis of
CATSPER1 in affected family members revealed two separate insertion mutations (c.539-540insT and c.948-949insATGGC) that are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317MetfsX18). CATSPER1 is one of four members of the sperm-specific CATSPER voltage-gated calcium channel family known to be essential for normal male fertility in mice. These results suggest that
CATSPER1 is also essential for normal male fertility in humans.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Calcium Channels - deficiency</subject><subject>Calcium Channels - genetics</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Consanguinity</subject><subject>Disease Models, Animal</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genes, Recessive</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Infertility, Male - genetics</subject><subject>Iran</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Molecular and cellular biology</subject><subject>Mutagenesis, Insertional</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Sterility. Assisted procreation</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU9v1DAQxS0EokvhC3BAvsAtYWzHcSwhpCoqtKgVFZSz5TiTrldZp7WdSvvtyWpXBS6c5jC_9-bPI-Qtg5IBqz9uSrtZ35UcQJcgSoDqGVkxKVRR1yCfkxUA8EJzrU7Iq5Q2AIw1IF6SE6ZFVTVKrci3i3lrA722I9LLMGDMfvR5R1s7J-xpt6PXc7bZTyFRH2heI23Pbn_enP9gtF3bEHCkN3HK6MNr8mKwY8I3x3pKfn05v20viqvvXy_bs6vCyQZyoZA3Q60Ukxb7iqPrOGcd62vNQTqmUUAnhWOMad0I1WkmpRZCVI22eqgrcUo-H3zv526LvcOQox3NffRbG3dmst782wl-be6mR8PrWmklF4MPR4M4PcyYstn65HAcbcBpToZDoyQ0fAH5AXRxSini8DSEgdlHYDZmH4HZR2BAmCWCRfTu7_X-SI4_X4D3R8AmZ8ch2uB8euI4E2q5WC_cpwOHyzMfPUaTnMfgsPcRXTb95P-3x2_CZaMk</recordid><startdate>200904</startdate><enddate>200904</enddate><creator>Avenarius, Matthew R.</creator><creator>Hildebrand, Michael S.</creator><creator>Zhang, Yuzhou</creator><creator>Meyer, Nicole C.</creator><creator>Smith, Luke L.H.</creator><creator>Kahrizi, Kimia</creator><creator>Najmabadi, Hossein</creator><creator>Smith, Richard J.H.</creator><general>Elsevier Inc</general><general>Cell Press</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</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>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>200904</creationdate><title>Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein</title><author>Avenarius, Matthew R. ; Hildebrand, Michael S. ; Zhang, Yuzhou ; Meyer, Nicole C. ; Smith, Luke L.H. ; Kahrizi, Kimia ; Najmabadi, Hossein ; Smith, Richard J.H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c580t-7e28f67715aed42ecb221b1d69205c19e30b53c11199837b91559333489a9f643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Calcium Channels - deficiency</topic><topic>Calcium Channels - genetics</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Consanguinity</topic><topic>Disease Models, Animal</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genes, Recessive</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Infertility, Male - genetics</topic><topic>Iran</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Molecular and cellular biology</topic><topic>Mutagenesis, Insertional</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Sterility. Assisted procreation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Avenarius, Matthew R.</creatorcontrib><creatorcontrib>Hildebrand, Michael S.</creatorcontrib><creatorcontrib>Zhang, Yuzhou</creatorcontrib><creatorcontrib>Meyer, Nicole C.</creatorcontrib><creatorcontrib>Smith, Luke L.H.</creatorcontrib><creatorcontrib>Kahrizi, Kimia</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Smith, Richard J.H.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Avenarius, Matthew R.</au><au>Hildebrand, Michael S.</au><au>Zhang, Yuzhou</au><au>Meyer, Nicole C.</au><au>Smith, Luke L.H.</au><au>Kahrizi, Kimia</au><au>Najmabadi, Hossein</au><au>Smith, Richard J.H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2009-04</date><risdate>2009</risdate><volume>84</volume><issue>4</issue><spage>505</spage><epage>510</epage><pages>505-510</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no
CATSPER gene has been identified as causative for human male infertility, male mice deficient for members of the
CatSper gene family are infertile. In this study, we used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-recessive male infertility. Autozygosity by descent was demonstrated in both families for a ∼11 cM region on chromosome 11q13.1, flanked by markers D11S1765 and D11S4139. This region contains the human
CATSPER1 gene. Denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequence analysis of
CATSPER1 in affected family members revealed two separate insertion mutations (c.539-540insT and c.948-949insATGGC) that are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317MetfsX18). CATSPER1 is one of four members of the sperm-specific CATSPER voltage-gated calcium channel family known to be essential for normal male fertility in mice. These results suggest that
CATSPER1 is also essential for normal male fertility in humans.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>19344877</pmid><doi>10.1016/j.ajhg.2009.03.004</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Amino Acid Sequence Animals Base Sequence Biological and medical sciences Birth control Calcium Channels - deficiency Calcium Channels - genetics Chromosome Mapping Chromosomes, Human, Pair 11 - genetics Consanguinity Disease Models, Animal DNA - genetics DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes, Recessive Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Infertility, Male - genetics Iran Lod Score Male Medical genetics Medical sciences Mice Molecular and cellular biology Mutagenesis, Insertional Mutation Pedigree Sterility. Assisted procreation |
| title | Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein |
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