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

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.

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Genre: Journal Article
Alternative Title : Dev. Biol.

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 Creators:
Shi, Wei1, Author
van den Hurk, José A. J. M., Author
Alamo-Bethencourt, Victor2, Author              
Mayer, Wolfgang1, Author
Winkens, Huub J., Author
Ropers, Hans-Hilger2, Author              
Cremers, Frans P. M., Author
Fundele, Reinald2, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Choroideremia; Trophoblast; Placenta; Yolk sac; Tetraploid (4n) aggregation; Backcross analysis
 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.

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Language(s): eng - English
 Dates: 2004-05-28
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 225230
DOI: 10.1016/j.ydbio.2004.04.016
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Title: Developmental Biology
  Alternative Title : Dev. Biol.
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 272 (1) Sequence Number: - Start / End Page: 53 - 65 Identifier: ISSN: 0012-1606