Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice.
Sphingolipids and the derived gangliosides have critical functions in spermatogenesis, thus mutations in genes involved in sphingolipid biogenesis are often associated with male infertility. We have generated a transgenic mouse line carrying an insertion in the sphingomyelin synthase gene Sms1, the...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2016-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC5082796?pdf=render |
| _version_ | 1819133084180676608 |
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| author | Anke Wittmann Marcus O W Grimm Harry Scherthan Marion Horsch Johannes Beckers Helmut Fuchs Valerie Gailus-Durner Martin Hrabě de Angelis Steven J Ford Neal C Burton Daniel Razansky Dietrich Trümbach Michaela Aichler Axel Karl Walch Julia Calzada-Wack Frauke Neff Wolfgang Wurst Tobias Hartmann Thomas Floss |
| author_facet | Anke Wittmann Marcus O W Grimm Harry Scherthan Marion Horsch Johannes Beckers Helmut Fuchs Valerie Gailus-Durner Martin Hrabě de Angelis Steven J Ford Neal C Burton Daniel Razansky Dietrich Trümbach Michaela Aichler Axel Karl Walch Julia Calzada-Wack Frauke Neff Wolfgang Wurst Tobias Hartmann Thomas Floss |
| author_sort | Anke Wittmann |
| collection | DOAJ |
| description | Sphingolipids and the derived gangliosides have critical functions in spermatogenesis, thus mutations in genes involved in sphingolipid biogenesis are often associated with male infertility. We have generated a transgenic mouse line carrying an insertion in the sphingomyelin synthase gene Sms1, the enzyme which generates sphingomyelin species in the Golgi apparatus. We describe the spermatogenesis defect of Sms1-/- mice, which is characterized by sloughing of spermatocytes and spermatids, causing progressive infertility of male homozygotes. Lipid profiling revealed a reduction in several long chain unsaturated phosphatidylcholins, lysophosphatidylcholins and sphingolipids in the testes of mutants. Multi-Spectral Optoacoustic Tomography indicated blood-testis barrier dysfunction. A supplementary diet of the essential omega-3 docosahexaenoic acid and eicosapentaenoic acid diminished germ cell sloughing from the seminiferous epithelium and restored spermatogenesis and fertility in 50% of previously infertile mutants. Our findings indicate that SMS1 has a wider than anticipated role in testis polyunsaturated fatty acid homeostasis and for male fertility. |
| first_indexed | 2024-12-22T09:41:40Z |
| format | Article |
| id | doaj.art-af78c7a2bc0546e29b95d8ed556a9ed4 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-22T09:41:40Z |
| publishDate | 2016-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-af78c7a2bc0546e29b95d8ed556a9ed42022-12-21T18:30:40ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-011110e016429810.1371/journal.pone.0164298Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice.Anke WittmannMarcus O W GrimmHarry ScherthanMarion HorschJohannes BeckersHelmut FuchsValerie Gailus-DurnerMartin Hrabě de AngelisSteven J FordNeal C BurtonDaniel RazanskyDietrich TrümbachMichaela AichlerAxel Karl WalchJulia Calzada-WackFrauke NeffWolfgang WurstTobias HartmannThomas FlossSphingolipids and the derived gangliosides have critical functions in spermatogenesis, thus mutations in genes involved in sphingolipid biogenesis are often associated with male infertility. We have generated a transgenic mouse line carrying an insertion in the sphingomyelin synthase gene Sms1, the enzyme which generates sphingomyelin species in the Golgi apparatus. We describe the spermatogenesis defect of Sms1-/- mice, which is characterized by sloughing of spermatocytes and spermatids, causing progressive infertility of male homozygotes. Lipid profiling revealed a reduction in several long chain unsaturated phosphatidylcholins, lysophosphatidylcholins and sphingolipids in the testes of mutants. Multi-Spectral Optoacoustic Tomography indicated blood-testis barrier dysfunction. A supplementary diet of the essential omega-3 docosahexaenoic acid and eicosapentaenoic acid diminished germ cell sloughing from the seminiferous epithelium and restored spermatogenesis and fertility in 50% of previously infertile mutants. Our findings indicate that SMS1 has a wider than anticipated role in testis polyunsaturated fatty acid homeostasis and for male fertility.http://europepmc.org/articles/PMC5082796?pdf=render |
| spellingShingle | Anke Wittmann Marcus O W Grimm Harry Scherthan Marion Horsch Johannes Beckers Helmut Fuchs Valerie Gailus-Durner Martin Hrabě de Angelis Steven J Ford Neal C Burton Daniel Razansky Dietrich Trümbach Michaela Aichler Axel Karl Walch Julia Calzada-Wack Frauke Neff Wolfgang Wurst Tobias Hartmann Thomas Floss Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. PLoS ONE |
| title | Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. |
| title_full | Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. |
| title_fullStr | Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. |
| title_full_unstemmed | Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. |
| title_short | Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. |
| title_sort | sphingomyelin synthase 1 is essential for male fertility in mice |
| url | http://europepmc.org/articles/PMC5082796?pdf=render |
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