| Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. | |
| | |
MedLine Citation:
|
PMID: 18579752 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Male infertility is one possible consequence of a group of disorders arising from dysfunction of cilia. Ciliopathies include primary ciliary dyskinesia, polycystic kidney disease, Usher syndrome, nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome as well as some forms of retinal degenerations. Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are best known for leading to retinal degeneration but have also been associated with ciliary dysfunctions affecting other tissues. To further study the involvement of RPGR in ciliopathies, transgenic mouse lines overexpressing RPGR were generated. Animals carrying the transgene in varying copy numbers were investigated. We found that infertility due to aberrant spermatozoa correlated with increased copy numbers. In animals with moderately increased gene copies of Rpgr, structural disorganization in the flagellar midpiece, outer dense fibers, and fibrous sheath was apparent. In contrast, in animals with high copy numbers, condensed sperm heads were present, but the flagellum was absent in the vast majority of spermatozoa, although early steps of flagellar biogenesis were observed. This complexity of defects in flagellar assembly suggests a role of RPGR in intraflagellar transport processes. |
| | |
Authors:
|
Sandra Brunner; Dvora Colman; Alexander J Travis; Ulrich F O Luhmann; Wei Shi; Silke Feil; Coni Imsand; Jacquelyn Nelson; Christian Grimm; Thomas Rülicke; Reinald Fundele; John Neidhardt; Wolfgang Berger |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-06-25 |
Journal Detail:
|
Title: Biology of reproduction Volume: 79 ISSN: 0006-3363 ISO Abbreviation: Biol. Reprod. Publication Date: 2008 Oct |
Date Detail:
|
Created Date: 2008-09-26 Completed Date: 2008-11-26 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0207224 Medline TA: Biol Reprod Country: United States |
Other Details:
|
Languages: eng Pagination: 608-17 Citation Subset: IM |
Affiliation:
|
Division of Medical Molecular Genetics and Gene Diagnostics, Institute for Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Biological Transport / genetics Carrier Proteins / genetics*, metabolism, physiology Eye Proteins / genetics*, metabolism, physiology Gene Dosage / physiology Infertility, Male / genetics* Male Mice Mice, Inbred C57BL Mice, Transgenic Models, Biological Sperm Tail / metabolism*, physiology, ultrastructure Spermatogenesis / genetics* Spermatozoa / abnormalities* Testis / cytology Up-Regulation / physiology |
| Chemical | |
Reg. No./Substance:
|
0/Carrier Proteins; 0/Eye Proteins; 0/RPGR protein, mouse |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Can bovine in vitro-matured oocytes selectively process X- or Y-sorted sperm differentially?
Next Document: Vascular actions of estrogens: functional implications.