de.mpg.escidoc.pubman.appbase.FacesBean
Deutsch
 
Hilfe Wegweiser Impressum Kontakt Einloggen
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT

Freigegeben

Zeitschriftenartikel

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

MPG-Autoren

Shi,  Wei
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50059

Alamo-Bethencourt,  Victor
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Mayer,  Wolfgang
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50501

Ropers,  Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50161

Fundele,  Reinald
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Externe Ressourcen
Es sind keine Externen Ressourcen verfügbar
Volltexte (frei zugänglich)
Es sind keine frei zugänglichen Volltexte verfügbar
Ergänzendes Material (frei zugänglich)
Es sind keine frei zugänglichen Ergänzenden Materialien verfügbar
Zitation

Shi, W., van den Hurk, J. A. J. M., Alamo-Bethencourt, V., Mayer, W., Winkens, H. J., Ropers, H.-H., et al. (2004). Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Developmental Biology, 272(1), 53-65. doi:10.1016/j.ydbio.2004.04.016.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-8840-0
Zusammenfassung
Choroideremia (CHM) is a hereditary eye disease caused by mutations in the X-linked CHM gene. Disruption of the Chm gene in mice resulted in prenatal death of Chm−/Y males and Chm−/Chm+ females that had inherited the mutation from their mothers. Male chimeras and Chm+/Chm− females with paternal transmission of the mutation were viable and had photoreceptor degeneration reminiscent of human choroideremia. Here, we show that Chm−/Y males and Chm−/Chm+ females were retarded at e7.5 and died before e11.5 due to multiple defects of the extra-embryonic tissues. Mutant embryos exhibited deficiency of diploid trophoblasts associated with overabundance of giant cells. In yolk sac and placenta, severe defects in vasculogenesis were obvious. Chm−/Y males exhibited more pronounced phenotypes than Chm−/Chm+ females. The lethal genotypes could be rescued by tetraploid aggregation. Chm−/Chm+ females, but not Chm−/Y males, could also be rescued when their Chm+/Chm− mothers were mated with Mus spretus males. Backcross analysis suggested that the viability of interspecies hybrid Chm−/Chm+ females may be due to expression from the Chm allele on the M. spretus X-chromosome rather than a modifier effect. Our results demonstrate that Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac.