Barbara Crescenzi

Abstract Monosomy 7 (−7) is occurring as isolated change or in complex karyotypes in 10–20% of myeloid neoplasms with poor prognosis. Although several genes mapping at chromosome 7 have been involved in pathogenetic mechanisms, the −7 molecular landscape is not fully elucidated. Using an epi-transcriptomic approach, new biological insights emerged in monosomy 7.

1 Introduction Heterochromatin is composed of distinct families of repetitive elements, well characterized in terms of sequence content and epigenetic marks [1]. Historically, it was defined as functionally useless “junk” DNA, whereas it is now clear that constitutive heterochromatin has an important role in maintaining genome stability and that it acts on neighboring genes by a cis/trans effect [2].

Abstract The unbalanced translocation dic(1;7)(q10;p10) in myelodysplastic syndromes (MDS) is originated by centromeric juxtaposition resulting into 1q trisomy and 7q monosomy. More than half of cases arise after chemo/radio-therapy. To date, given the absence of genes within the centromeric regions, no specific molecular events have been identified in this cytogenetic subgroup.