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Human Molecular Genetics, Vol 6, 851-858, Copyright © 1997 by Oxford University Press

ARTICLES

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline

JA van den Hurk, W Hendriks, DJ van de Pol, F Oerlemans, G Jaissle, K Ruther, K Kohler, J Hartmann, E Zrenner, H van Bokhoven, B Wieringa, HH Ropers and FP Cremers
Department of Human Genetics, University Hospital Nijmegen, The Netherlands. j.vandenhurk@antrg.azn.nl

Choroideremia (CHM) is an X-linked progressive eye disorder which results from defects in the human Rab escort protein-1 (REP-1) gene. A gene targeting approach was used to disrupt the mouse chm/rep-1 gene. Chimeric males transmitted the mutated gene to their carrier daughters but, surprisingly, these heterozygous females had neither affected male nor carrier female offspring. The targeted rep-1 allele was detectable, however, in male as well as female blastocyst stage embryos isolated from a heterozygous mother. Thus, disruption of the rep-1 gene gives rise to lethality in male embryos; in female embryos it is only lethal if the mutation is of maternal origin. This observation can be explained by preferential inactivation of the paternal X chromosome in murine extraembryonic membranes suggesting that expression of the rep-1 gene is essential in these tissues. In both heterozygous females and chimeras the rep-1 mutation causes photoreceptor cell degeneration. Consequently, conditional rescue of the embryonic lethal phenotype of the rep-1 mutation may provide a faithful mouse model for choroideremia.
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