About: Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus

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About: Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The hypodactylous (hd) locus impairs spermatogenesis, leading to male infertility in rats. We show that the hd mutation is caused by an insertion of an endogenous retrovirus into 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 in humans. The hypodactylous (hd) locus impairs spermatogenesis, leading to male infertility in rats. We show that the hd mutation is caused by an insertion of an endogenous retrovirus into 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 in humans. (en)
Title	Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus (en)
skos:prefLabel	Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus (en)
skos:notation	RIV/00216208:11110/09:4911!RIV10-GA0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(GA304/06/0116), P(GP301/07/P178), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Šnajdr, Pavel Liška, František Křen, Vladimír Křenová, Drahomíra Krejčí, Eliška
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	338136
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4911
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	acroplaxome; centrobin; centrosome; spermatid; spermatogenesis; teratozoospermia; mutant mouse; protein; acroplaxome; nip2/centrobin; centrosome; expression; substrate; acrosome; defects; complex (en)
http://linked.open.../riv/klicoveSlovo	mutant mouse defects expression protein substrate spermatogenesis complex acrosome centrobin centrosome acroplaxome nip2/centrobin spermatid teratozoospermia
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[832FE8C6E5B9]
http://linked.open...i/riv/nazevZdroje	Biology of Reproduction
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...vavai/riv/projekt	Genes influencing limb patterning: morphology and functional genomics of hypodactyly and polydactyly-luxate mutations in the Norway rat Spermatogenesis impairment in the rats carrying the mutant allele hd: analysis of molecular function of both normal and mutant allele of the LOC303240
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	81
http://linked.open...iv/tvurceVysledku	Křen, Vladimír Lee-Kirsch, M. A. Hubner, N. Liška, František Šnajdr, Pavel Krejčí, Eliška Křenová, Drahomíra Gosele, C. Cardoso, MC Domaing, P. Kierszenbaum, A. L. Rivkin, E. Tres, L. de Rooij, DG
http://linked.open...ain/vavai/riv/wos	000272030300021
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0006-3363
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus

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