mir-149 chr2:241044091- 241044179 mir-566 chr3:50185763- 50185856 mir- chr3:75762604- 1324 75762699 mir-570 chr3:196911452- 196911548 mir- chr4:9166887- 548i-2 9167035 mir- chr8:7983873- 548i-3 7984021 mir-383 chr8:14755318- 14755390 mir-661 chr8:145091347- 145091435 mir- chr9:68292059- 1299 68292141 mir-126 chr9:138684875- 138684959 mir-202 chr10:134911006- chr10:134903011- 134911115 134918923 mir- chr15:20014593- chr15:19975453- 1268 20014644 20046356 mir- chr15:32461562- chr15 chr15:32461525- 1233 32461643 32469857 mir- chr15:32607783- chr15 chr15:32599966- 1233 32607864 32615283 mir-662 chr16:760184- 760278 mir- 1972 chr16:68621750- chr11 chr16:68621490- 68621826 68653097 mir-142 chr17:53763592- 53763678 mir- chr19:20371080- 1270 20371162 mir-663 chr20:26136822- 26136914 mir-650 chr22:21495270- 21495365 mir- chrX:146171153- 514-2 146171240 mir- chrX:146173851- 514-3 146173938 chr2:241039698- 241051687 chr3:50173490- 50214015 chr3:75761737- 75839337 chr3:196905807- 196918722 chr4:9152768- 9182838 chr8:7965981- 8024983 chr8:14741501- 14763659 chr8:145090343- 145104971 chr9:68291272- 68298205 chr9:138680837- 138688363 chr16:750040- 764098 chr17:53751608- 53767652 chr19:20370872- 20383238 chr20:26136626- 26139184 chr22:21494381- 21502189 chrX:146168796- 146174575 chrX:146168796- 146174575 6 6 7 6 9 9 8 8 7 14 14 10 37 9 17 6 6 11 38 9 6 6 6 4) downregulated in non-obstructive azoospermia [39] 5) downregulates the expression of metastatic tumor antigen 1 (MTA1), inhibits the motility, invasiveness, anchorage-independent growth, and tumorigenicity of cancer cells [48] 6) suppresses cell growth in colon cancer [43]; downregulates HOXA9, playing a role in the development of many organs and often upregulated in myeloid leukemias [37]; regulates angiogenic signaling and vascular integrity [38]; overexpressed in ALL and AML [42] 1) see Table 1 1) see Table 1 1) see Table 1 7) increased expression correlates with rejection of organ transplants [40]; overexpressed in pre- B-ALL patients [46]; potentially involved in the development of blood cancer or brain tumors [45] 1) see Table 1 Marcinkowska et al. BMC Genomics 2011, 12:183 http://www.biomedcentral.com/1471-2164/12/183 Table 2 miRNA loci localized in CNV regions validated by multiple overlapping CNVs miRNAs localized in ‘DGV-deposited’ CNV regions validated by multiple overlapping CNVs miRNA ID mir- 1977 miRNA position dupl. minimal CNV region # CNVs chr1:556050- 556128 chrM chr1:554340- 569354 functional relevance 3) downregulated in squamous cell carcinoma of the tongue [44] dupl. - localization of duplicated copies; mimiRNA/[18] - miRNA expression according to database mimiRNA/and according to resent result of expression analysis in primary fibroblast cells (high - high expression, absent - low or undetectable expression in fibroblast cells, - not analyzed). expression (mimiRNA/[18]) not reported/NA in multiple tissues/ high in several tissues/ absent not reported/NA in several tissues/ absent not reported/NA not reported/NA in multiple tissues/ absent in several tissues (mostly ovary and ovary-derived cancers)/absent not reported/NA high, in multiple tissues/high in several tissues/ absent not reported/NA not reported/NA not reported/NA in several tissues/ absent not reported/NA high, in multiple tissues/absent not reported/NA in several tissues/NA in several tissues/ high Page 4 of 9 conservation primates vertebrates primates primates primates primates primates vertebrates primates primates vertebrates vertebrates primates primates primates primates primates vertebrates primates primates primates in several tissues/NA mammals in several tissues/NA mammals