| The Hermansky-Pudlak syndrome (HPS) is a kind of autosomal genetic disease, a multi-system syndrome caused by mutation in genes that regulate the protein transportation and the biogenesis of lysosome-related organelles. It often causes patients to die of bleeding, lung disease or intestinal inflammation at the age of30-50, and there is no effective treatment at present. In mouse, pearl (pe) is a typical HPS model.During the management and research, we found that pe mouse has such clinical symptoms as hypopigmentation, prolonged bleeding time, fibrotic lung, ceroid deposition in colon, and visual acuity degradation. In addition to these abnormalities, pe mouse has shown fertility problems, its popolation is hard to expand. So, we designed some matching experiments, and the results showed that pe female mouse can produce normal offsprings, but its litter size is remarkably reduced. It is the first time to report the low fertility inpe female mouse.In order to investigate the inner reasons of the reduced fertility, we examined its reproductive organs at several levels. Compared with the C57BL/6J female mouse,pe mouse showed uterine dysplasia. We observed that,pe uterus is small in size, with shorter and thinner uterine horns; The internal structure of its uterine wall is also abnormal:the endometrial layer and the uterine stromal layer are both thinner than the control mouse, while the myometrium is relatively normal. The expression levels of the key genes in uterine development:Hoxa10, Hoxa11, Wnt5a are also abnormal, they are all lower than the C57BL/6J female mouse.In general, pearl (pe) female mouse shows low fertility and uterine dysplasia, and it could be caused by the low expression of Hox, Wnt genes. Further more, we will explore the mechanism of AP-3regulating uterine development. The results are expected to deepen our understanding in protein transportation and organelles generation, and provide new ideas to clinical reproductive study. |
PDF Full Text Request