International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 46 - ANALYSIS OF THE CANDIDATE REGION AND CANDIDATE GENES RESPONSIBLE FOR THE DDK SYNDROME OF EMBRYONIC LETHALITY

de la Casa-Esperon E 1, Gimelbrant A 3, Adey B 1, Briscoe T 1, Hao L 1, Wu G 1, Chess A 3, Pardo-Manuel de Villena F 2, Sapienza C 1

1 Fels Institute, Temple University School of Medicine, Philadelphia, PA, United States, 2 Department of Genetics, UNC-Chapel Hill, Chapel Hill, NC, United States, 3 Whitehead Institute for Biomedical Research, MIT, Cambridge, MA, United States

The DDK syndrome of embryonic lethality is observed in crosses between females of the DDK inbred strain with males of other strains (e.g., C57BL/6), in which the resulting embryos die around the time of implantation, while the reciprocal cross (non-DDK females x DDK males) is viable. The lethality is the result of an interaction between a maternal gene of DDK origin, which is expressed in oocytes, and a non-DDK paternal gene. Both genes (Om) map in the same region of chromosome 11. Interestingly, the Om candidate region in DDK chromosome 11 lacks ≈50 Kb present in the C57BL/6 chromosome. In addition, only half of the offspring of the backcross between (C57BL/6xDDK)F1 females and C57BL/6 males survive. This observation suggests that the maternal Om gene is expressed from only one allele in each single oocyte. This hypothesis is supported by our observation in the Om candidate region of asynchronous replication, which has been associated with monoallelic expression of genes. Consequently, in order to identify the maternal Om gene we are performing a study of expression patterns within the Om candidate region.

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