title: Haplo-deficiency of ODF1/HSPB10 in mouse sperm causes relaxation of head-to-tail linkage.
abstract: 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.
authors.affiliation: 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.
authors.forename: Kefei
authors.initials: K
authors.lastname: Yang
authors.affiliation: 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.
authors.forename: Pawel
authors.initials: P
authors.lastname: Grzmil
authors.affiliation: 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.
authors.forename: Andreas
authors.initials: A
authors.lastname: Meinhardt
authors.affiliation: 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 shoyer@gwdg.de.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Hoyer-Fender
mesh_terms: D000818:Animals; D005298:Fertility; D005838:Genotype; D057895:Haploinsufficiency; D006360:Heat-Shock Proteins / Q000235:genetics / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D007248:Infertility, Male / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D008297:Male; D057507:Mice, 129 Strain; D020297:Mice, Congenic; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D010641:Phenotype; D012726:Sexual Behavior, Animal; D013077:Sperm Head / Q000378:metabolism* / Q000648:ultrastructure; D013081:Sperm Motility; D013082:Sperm Tail / Q000378:metabolism* / Q000648:ultrastructure
chemical_list: D006360:Heat-Shock Proteins; C490109:Odf1 protein, mouse