MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)

3q26.2

EVI1 is expressed at very low levels in normal peripheral blood and bone marrow. The gene is overexpressed in myeloid leukemias and myelodysplastic syndromes as a result of chromosomal rearrangements at either the 5 region of the gene in t(3;3)(q21;q26) or at the 3 region in inv(3)(q21q26) by juxtaposition of the gene to putative enhancer elements of the Ribophorin I gene in 3q21. High expression of EVI1 can also occur in the t(3;21)(q26;q22) as part of the fusion gene AML1/MDS1/EVI1 in CML-BC, or MDS or as part of the fusion gene ETV6/MDS1/EVI1 in AML with t(3;12) translocation. EVI1 is also involved in other translocations such as t(2;3)(p13;q26), t(2;3)(q23;q26), t(3;17)(q26;q22) and t(3;13)(q26;q13-14). Other studies have reported abnormal expression of EVI1 in MDS and AML without 3q26 structural abnormalities, suggesting that inappropriate activation of this gene occurs through various mechanisms.

16 exons spanning 64.2 Kb. Transcriptional orientation is from telomere to centromere. 6 splicing variants.

1051 amino acids; 118335 Da. Nuclear location, contains 10 C2H2-type zinc fingers.

CDK6 (cyclin dependent kinase 6)

7q21.2

7 exons spanning 229 Kb. Transcriptional orientation is from telomere to centromere.

326 amino acids; 36938 Da. It belongs to the Ser/Thr protein kinase family, CDC2/CDKX subfamily. It is probably involved in the control of the cell cycle. Interacts with D-type G1 cyclins.