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Journal Article

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

MPS-Authors

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;

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Citation

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.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8840-0
Abstract
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.