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Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.

Liska, Frantisek and Gosele, Claudia and Rivkin, Eugene and Tres, Laura and Cardoso, M. Cristina and Domaing, Petra and Krejcí, Eliska and Snajdr, Pavel and Lee-Kirsch, Min Ae and Rooij, Dirk G. de and Kren, Vladimír and Krenová, Drahomíra and Kierszenbaum, Abraham L. and Hubner, Norbert (2009):
Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.
In: Biology of reproduction, (6), 81. pp. 1196-205, ISSN 1529-7268,
[Online-Edition: http://www.cardoso-lab.org/publications/Liska_2009.pdf],
[Article]

Abstract

The hypodactylous (hd) locus impairs limb development and spermatogenesis, leading to male infertility in rats. We show that the hd mutation is caused by an insertion of an endogenous retrovirus into intron 10 of the Cntrob gene. The retroviral insertion in hd mutant rats disrupts the normal splicing of Cntrob transcripts and results in the expression of a truncated protein. During the final phase of spermiogenesis, centrobin localizes to the manchette, centrosome, and the marginal ring of the spermatid acroplaxome, where it interacts with keratin 5-containing intermediate filaments. Mutant spermatids show a defective acroplaxome marginal ring and separation of the centrosome from its normal attachment site of the nucleus. This separation correlates with a disruption of head-tail coupling apparatus, leading to spermatid decapitation during the final step of spermiogenesis and the absence of sperm in the epididymis. Cntrob may represent a novel candidate gene for presently unexplained hereditary forms of teratozoospermia and the "easily decapitated sperm syndrome" in humans.

Item Type: Article
Erschienen: 2009
Creators: Liska, Frantisek and Gosele, Claudia and Rivkin, Eugene and Tres, Laura and Cardoso, M. Cristina and Domaing, Petra and Krejcí, Eliska and Snajdr, Pavel and Lee-Kirsch, Min Ae and Rooij, Dirk G. de and Kren, Vladimír and Krenová, Drahomíra and Kierszenbaum, Abraham L. and Hubner, Norbert
Title: Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.
Language: English
Abstract:

The hypodactylous (hd) locus impairs limb development and spermatogenesis, leading to male infertility in rats. We show that the hd mutation is caused by an insertion of an endogenous retrovirus into intron 10 of the Cntrob gene. The retroviral insertion in hd mutant rats disrupts the normal splicing of Cntrob transcripts and results in the expression of a truncated protein. During the final phase of spermiogenesis, centrobin localizes to the manchette, centrosome, and the marginal ring of the spermatid acroplaxome, where it interacts with keratin 5-containing intermediate filaments. Mutant spermatids show a defective acroplaxome marginal ring and separation of the centrosome from its normal attachment site of the nucleus. This separation correlates with a disruption of head-tail coupling apparatus, leading to spermatid decapitation during the final step of spermiogenesis and the absence of sperm in the epididymis. Cntrob may represent a novel candidate gene for presently unexplained hereditary forms of teratozoospermia and the "easily decapitated sperm syndrome" in humans.

Journal or Publication Title: Biology of reproduction
Journal volume: 81
Number: 6
Divisions: 10 Department of Biology
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10 Department of Biology > Cell Biology and Epigenetics
Date Deposited: 06 Mar 2010 16:08
Official URL: http://www.cardoso-lab.org/publications/Liska_2009.pdf
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