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

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.

journal_name

Dev Biol

journal_title

Developmental biology

authors

Shi W,van den Hurk JA,Alamo-Bethencourt V,Mayer W,Winkens HJ,Ropers HH,Cremers FP,Fundele R

doi

10.1016/j.ydbio.2004.04.016

subject

Has Abstract

pub_date

2004-08-01 00:00:00

pages

53-65

issue

1

eissn

0012-1606

issn

1095-564X

pii

S0012160604003069

journal_volume

272

pub_type

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