Ontology highlight
ABSTRACT:
SUBMITTER: Liska F
PROVIDER: S-EPMC2802234 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Liska Frantisek F Gosele Claudia C Rivkin Eugene E Tres Laura L Cardoso M Cristina MC Domaing Petra P Krejcí Eliska E Snajdr Pavel P Lee-Kirsch Min Ae MA de Rooij Dirk G DG Kren Vladimír V Krenová Drahomíra D Kierszenbaum Abraham L AL Hubner Norbert N
Biology of reproduction 20090826 6
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 s ...[more]