Mutations in Serac1 or Synj2 cause proximal t haplotype-mediated male mouse sterility but not transmission ratio distortion.
Document Type
Article
Publication Date
2005
Keywords
Chromosomes-Artificial-Bacterial, DNA, Haplotypes, Infertility-Male, Molecular-Sequence-Data, Mutation, Nerve-Tissue-Proteins, Phosphoric-Monoester-Hydrolases, Reverse-Transcriptase-Polymerase-Chain-Reaction
First Page
3342
Last Page
3347
JAX Source
Proc Natl Acad Sci U S A 2005 Mar; 102(9):3342-7.
Abstract
Transmission ratio distortion (TRD) and sterility are male-specific quantitative trait phenomena associated with the mouse t haplotype. TRD occurs in t haplotype-heterozygous males and is caused by the deleterious action of distorter products on sperm bearing a wild-type responder locus. It has been proposed that t-mediated male sterility is a severe manifestation of TRD caused by homozygosity for distorter loci; thus, the distorter and sterility loci would be identical. In this, study a transgenic approach was used to identify the proximal sterility locus, tcs1 (S1), and test its role in TRD. Mice transgenic for a wild-type bacterial artificial chromosome (BAC) derived from the S1-critical region were bred onto t haplotype backgrounds. Mating results conclusively showed that the BAC is sufficient to restore fertility in otherwise sterile males. Multiple mutations were identified in the t alleles of Synj2 and Serac1, two genes in the BAC; thus, they are candidates for S1. In addition, whereas the BAC transgene rescued sterility, it had no effect on TRD. These results uncouple the proximal t haplotype sterility locus, S1, from TRD, demonstrating that S1 and the proximal distorter locus, D1, are not the same gene.
Recommended Citation
Schimenti JC,
Reynolds JL,
Planchart A.
Mutations in Serac1 or Synj2 cause proximal t haplotype-mediated male mouse sterility but not transmission ratio distortion. Proc Natl Acad Sci U S A 2005 Mar; 102(9):3342-7.