Fig. 1
From: A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes
Cytogenetics, fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism array (SNPa) result summary. a Human centromeric regions. Top: representative chromosome structure with position of repetitive sequences. Upper middle: small different colored circles represent monomers of alpha-satellite DNA at centromeres; large red arrows indicate high-order repeat (HOR) units that form centromeric chromatin. Lower middle: specific histone modifications promote binding of centromeric (CENP-A, CENPB, CENP-C) and pericentromeric (HP-1) proteins. Bottom: the constitutive 16 proteins, centromere-associated network (CCAN), interact with centromeric proteins and promote microtubule attachment to the centromere. b Schematic representation with relative orientation of genomic FISH probes at centromere 1 (D1Z5 SpectrumOrange) and centromere 7 (D7Z1 SpectrumGreen). c Metaphase dual-color FISH with D1Z5 (orange) and D7Z1 (green) showing a fusion signal on dic(1;7), indicated by a yellow arrow (DIC 4 case). d Copy number alterations (CNAs) detected by SNP-arrays in all five dicentric cases. CN copy number, chr chromosome, cytostart cytogenetic band start, cytoend cytogenetic band end
