Search: onr:"swepub:oai:DiVA.org:uu-107908" >
Overexpression of R...
Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly
-
Brunner, Sandra (author)
-
Colman, Dvora (author)
-
Travis, Alexander J. (author)
-
show more...
-
Luhmann, Ulrich F. O. (author)
-
- Shi, Wei (author)
- Uppsala universitet,Zoologisk utvecklingsbiologi
-
Feil, Silke (author)
-
Imsand, Coni (author)
-
Nelson, Jacquelyn (author)
-
Grimm, Christian (author)
-
Ruelicke, Thomas (author)
-
- Fundele, Reinald (author)
- Uppsala universitet,Zoologisk utvecklingsbiologi
-
Neidhardt, John (author)
-
Berger, Wolfgang (author)
-
show less...
-
(creator_code:org_t)
- Oxford University Press (OUP), 2008
- 2008
- English.
-
In: Biology of Reproduction. - : Oxford University Press (OUP). - 0006-3363 .- 1529-7268. ; 79:4, s. 608-617
- Related links:
-
https://academic.oup...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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.
Subject headings
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
Keyword
- flagellum
- infertility
- sperm
- spermatogenesis
- testis
- Biology
- Biologi
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Brunner, Sandra
-
Colman, Dvora
-
Travis, Alexande ...
-
Luhmann, Ulrich ...
-
Shi, Wei
-
Feil, Silke
-
show more...
-
Imsand, Coni
-
Nelson, Jacquely ...
-
Grimm, Christian
-
Ruelicke, Thomas
-
Fundele, Reinald
-
Neidhardt, John
-
Berger, Wolfgang
-
show less...
- About the subject
-
- NATURAL SCIENCES
-
NATURAL SCIENCES
-
and Biological Scien ...
- Articles in the publication
-
Biology of Repro ...
- By the university
-
Uppsala University