Document Detail

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.
MedLine Citation:
PMID:  18579752     Owner:  NLM     Status:  MEDLINE    
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.
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    
Division of Medical Molecular Genetics and Gene Diagnostics, Institute for Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland.
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MeSH Terms
Biological Transport / genetics
Carrier Proteins / genetics*,  metabolism,  physiology
Eye Proteins / genetics*,  metabolism,  physiology
Gene Dosage / physiology
Infertility, Male / genetics*
Mice, Inbred C57BL
Mice, Transgenic
Models, Biological
Sperm Tail / metabolism*,  physiology,  ultrastructure
Spermatogenesis / genetics*
Spermatozoa / abnormalities*
Testis / cytology
Up-Regulation / physiology
Reg. No./Substance:
0/Carrier Proteins; 0/Eye Proteins; 0/RPGR protein, mouse

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