• PMID: 25118300
• Gene Name: ODF1
• Condition: Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Haplo-deficiency of ODF1/HSPB10 in mouse sperm causes relaxation of head-to-tail linkage

Yang K, Grzmil P, Meinhardt A, Hoyer-Fender S.

The small heat shock protein ODF1/HSPB10 is essential for male fertility in mice. Targeted deletion of Odf1 resulted in acephalic sperm in homozygous mice of mixed background (C57BL/6J//129/Sv), whereas heterozygous animals are fully fertile. To further elucidate the function of ODF1, we generated incipient congenic mice with targeted deletion of Odf1 by successive backcrossing on the 129/Sv background. We observed that fecundity of heterozygous Odf1(+/-) male mice was severely reduced over backcross generations. However, neither aberrant sperm parameters nor sperm anomalies could be observed. Ultra-structural analyses of sperm from incipient congenic heterozygous Odf1(+/-) males of backcross generation N7 revealed no obvious pathological findings. However, we observed an enlargement of the distance between nuclear membrane and capitulum, indicating a weakening of the sperm head-to-tail coupling. Severe male subfertility provoked by haplo-deficiency of ODF1 is therefore most probably caused by impaired head-to-tail coupling that eventually might induce sperm decapitation on the specific conditions of in vivo fertilisation. As subfertility in haplo-deficient ODF1 male mice could not be diagnosed by semen analysis, it seems to be a paradigm for unexplained infertility that is a frequent diagnosis for male fertility impairment in humans. CI - © 2014 Society for Reproduction and Fertility. FAU - Yang, Kefei AU - Yang K AD - Johann-Friedrich-Blumenbach-Institute of Zoology and Anthropology - Developmental BiologyGZMB, Ernst-Caspari-Haus, Justus-von-Liebig-Weg 11, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyInstitute of Human GeneticsUniversity Medicine, Heinrich-Düker-Weg 12, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyDepartment of Genetics and EvolutionInstitute of Zoology, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland andDepartment of Anatomy and Cell BiologyAulweg 123, Justus-Liebig-University Gießen, 35392 Gießen, Germany. FAU - Grzmil, Pawel AU - Grzmil P AD - Johann-Friedrich-Blumenbach-Institute of Zoology and Anthropology - Developmental BiologyGZMB, Ernst-Caspari-Haus, Justus-von-Liebig-Weg 11, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyInstitute of Human GeneticsUniversity Medicine, Heinrich-Düker-Weg 12, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyDepartment of Genetics and EvolutionInstitute of Zoology, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland andDepartment of Anatomy and Cell BiologyAulweg 123, Justus-Liebig-University Gießen, 35392 Gießen, Germany Johann-Friedrich-Blumenbach-Institute of Zoology and Anthropology - Developmental BiologyGZMB, Ernst-Caspari-Haus, Justus-von-Liebig-Weg 11, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyInstitute of Human GeneticsUniversity Medicine, Heinrich-Düker-Weg 12, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyDepartment of Genetics and EvolutionInstitute of Zoology, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland andDepartment of Anatomy and Cell BiologyAulweg 123, Justus-Liebig-University Gießen, 35392 Gießen, Germany. FAU - Meinhardt, Andreas AU - Meinhardt A AD - Johann-Friedrich-Blumenbach-Institute of Zoology and Anthropology - Developmental BiologyGZMB, Ernst-Caspari-Haus, Justus-von-Liebig-Weg 11, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyInstitute of Human GeneticsUniversity Medicine, Heinrich-Düker-Weg 12, Georg-August-Universität Göttingen, 37077 Göttingen, GermanyDepartment of Genetics and EvolutionInstitute of Zoology, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland andDepartment of Anatomy and Cell BiologyAulweg 123, Justus-Liebig-University Gießen, 35392 Gießen, Germany.