Identification of a novel isoform of the leukemia-associated MLLT1 (ENL/LTG19) protein

Genome wide transcriptional profiles offer abundant information regarding mRNA levels in specific tissues, organs or developmental stages. Although these data sets do not offer spatial or cell type-specific information, they can be extremely useful for gene discovery when analyzed by the appropriate techniques. Previously, we proposed and validated the use of combinatorial dataset analysis techniques to identify novel genes required during pre-implantation development. Now we build upon this work to identify genes that have dynamic expression during gametogenesis. Here we present detailed analysis of the expression pattern of leukemia-associated, myeloid/lymphoid or mixed-lineage leukemia; translocated to 1 (Mllt1) gene. We document a novel splice isoform of Mllt1 and confirm that both Mllt1 mRNA isoforms are translated. We provide data supporting that MLLT1 protein isoforms display distinct stage-specific expression during spermiogenesis and adult tissues. Finally, we evaluated genes neighboring the Mllt1 locus, and show dynamic stage specific expression patterns of other genes Catsperd, Prr22, Rfx2 and Slc25a41. We document testes expressed alternative isoforms of Prr22 and Rfx2. These results indicate that transcriptome data mining, combined with specific expression analysis provides a wealth of novel gene expression information.