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Publication : Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.

First Author  Crackower MA Year  2003
Journal  Science Volume  300
Issue  5623 Pages  1291-5
PubMed ID  12764197 Mgi Jnum  J:83634
Mgi Id  MGI:2662793 Doi  10.1126/science.1083022
Citation  Crackower MA, et al. (2003) Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Science 300(5623):1291-5
abstractText  Meiosis is a critical stage of gametogenesis in which alignment and synapsis of chromosomal pairs occur, allowing for the recombination of maternal and paternal genomes. Here we show that FK506 binding protein (Fkbp6) localizes to meiotic chromosome cores and regions of homologous chromosome synapsis. Targeted inactivation of Fkbp6 in mice results in aspermic males and the absence of normal pachytene spermatocytes. Moreover, we identified the deletion of Fkbp6 exon 8 as the causative mutation in spontaneously male sterile as/as mutant rats. Loss of Fkbp6 results in abnormal pairing and misalignments between homologous chromosomes, nonhomologous partner switches, and autosynapsis of X chromosome cores in meiotic spermatocytes. Fertility and meiosis are normal in Fkbp6 mutant females. Thus, Fkbp6 is a component of the synaptonemal complex essential for sex-specific fertility and for the fidelity of homologous chromosome pairing in meiosis.
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