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doi:10.1534/genetics.105.047118
A more recent version of this article appeared on January 1, 2006.
REGULAR RESEARCH PAPERS |
The paternal gene of the DDK syndrome maps to the Schlafen gene cluster on mouse chromosome 11
Timothy A Bell 1, Elena de la Casa-Esperon 2, Heather E Doherty 1, Folami Ideraabdullah 1, Kuikwon Kim 1, Yunfei Wang 1, Leslie A Lange 1, Kirk Wilhemsen 1, Ethan M Lange 1, Carmen Sapienza 3 and Fernando Pardo-Manuel de Villena 1*
1 University of North Carolina
2 Temple University
3 Temple University Medical School
* To whom correspondence should be addressed. E-mail: fernando{at}med.unc.edu.
Submitted on June 21, 2005
Revised on July 21, 2005
Accepted on 11 September 2005
The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse chromosome 11. Here we define a 465 kb candidate interval for the paternal gene by recombinant progeny testing. To further refine the candidate interval we determined whether males from 17 classical and wild-derived inbred strains are interfertile with DDK females. We conclude that the incompatible paternal allele arose in the Mus musculus domesticus lineage and that incompatible strains should share a common haplotype spanning the paternal gene. We tested for association between paternal allele compatibility/incompatibility and 167 genetic variants located in the candidate interval. Two diallelic SNPs, located in the Schlafen gene cluster, are completely predictive of the polar-lethal phenotype. These SNPs also predict the compatible or incompatible status of males of five additional strains.
Key Words: DDK syndrome, Ovum mutant, Schlafen, wild-derived strains
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