title: The paternal gene of the DDK syndrome maps to the Schlafen gene cluster on mouse chromosome 11.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA.
authors.forename: Timothy A
authors.initials: TA
authors.lastname: Bell
authors.forename: Elena
authors.initials: E
authors.lastname: de la Casa-Esperón
authors.forename: Heather E
authors.initials: HE
authors.lastname: Doherty
authors.forename: Folami
authors.initials: F
authors.lastname: Ideraabdullah
authors.forename: Kuikwon
authors.initials: K
authors.lastname: Kim
authors.forename: Yunfei
authors.initials: Y
authors.lastname: Wang
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Lange
authors.forename: Kirk
authors.initials: K
authors.lastname: Wilhemsen
authors.forename: Ethan M
authors.initials: EM
authors.lastname: Lange
authors.forename: Carmen
authors.initials: C
authors.lastname: Sapienza
authors.forename: Fernando Pardo-Manuel
authors.initials: FP
authors.lastname: de Villena
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002875:Chromosomes / Q000235:genetics*; D003433:Crosses, Genetic; D005260:Female; D005298:Fertility / Q000235:genetics*; D005804:Genes, Lethal; D008040:Genetic Linkage; D018392:Genomic Imprinting / Q000502:physiology*; D006239:Haplotypes / Q000235:genetics; D008297:Male; D051379:Mice; D008815:Mice, Inbred Strains; D005810:Multigene Family; D010641:Phenotype; D010802:Phylogeny; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; C504818:schlafen-1 protein, mouse