Myelodysplastic Syndrome 2 Translocation Associated Protein (MDS2)

MDS2 gene contains 7 exons and spans approximately 13 kb. The promoter region contains a canonical TATA box.Odero et al. (2002) identified ETV6 as a fusion partner in a t(1;12)(p36;p13) translocation in a patient with myelodysplastic syndrome (MDS).they identified the other fusion partner, which they called MDS2. RT-PCR revealed near ubiquitous expression of MDS2 as 4 splice variants. The major transcript was highly expressed in peripheral blood leukocytes, spleen, thymus, kidney, pancreas, and lung. This band was present in other tissues at lower abundance and was completely absent in brain and testis. Additional bands of weaker intensity were seen in most tissues, and brain had a unique transcript. The major MDS2 variant contains exons 1, 4, 6, and 7, and the brain-specific variant contains exons 1, 2, 3, 4, 6, and 7.