Uncoupling of transcriptomic and cytological differentiation in mouse spermatocytes with impaired meiosis.

Alexander D Fine, The Jackson Laboratory
Robyn L Ball
Yasuhiro Fujiwara, The Jackson Laboratory
Mary Ann Handel, The Jackson Laboratory
Gregory W. Carter, The Jackson Laboratory

We thank the Handel and Carter laboratories for discussions, and gratefully acknowledge Sabrina Petri for animal care. We also thank Drs. J. Trowbridge, A. Yee, C. Cowan, and S. Munger for feedback on the project and comments on the manuscript.


Cell differentiation is driven by changes in gene expression that manifest as changes in cellular phenotype or function. Altered cellular phenotypes, stemming from genetic mutations or other perturbations, are widely assumed to directly correspond to changes in the transcriptome and vice versa. Here, we exploited the cytologically well-defined Prdm9 mutant mouse as a model of developmental arrest to test whether parallel programs of cellular differentiation and gene expression are tightly coordinated, or can be disassociated. By comparing cytological phenotype markers and transcriptomes in wild-type and mutant spermatocytes, we identified multiple instances of cellular and molecular uncoupling in Prdm9