Table 1.
Human germline imprinted DMRs
| DMR name | Other names frequently used in the literature | Associated ImpDis | Location (Hg38) | No. of CpGs | Type1 | imprint origin |
|---|---|---|---|---|---|---|
| PPIEL:Ex1-DMR | chr1:39,558,953–39,559,868 | 39 | NC | Oocyte_gDMR | ||
| DIRAS3:Ex2-DMR | chr1:68,046,821–68047803 | 88 | NC | Oocyte_gDMR | ||
| DIRAS3:TSS-DMR | chr1:68,049,749–68051862 | 39 | NC | Oocyte_gDMR | ||
| GPR1-AS:TSS-DMR | chr2:206,202,242–206204721 | 86 | X | Oocyte_gDMR | ||
| ZDBF2/GPR1:IG-DMR | chr2:206,249,858–206271820 | 439 | NC | Sperm_gDMR-secondary_DMR | ||
| NAP1L5:TSS-DMR | chr4:88,697,032–88698086 | 57 | NC | Oocyte_gDMR | ||
| VTRNA2-1:DMR | chr5:136,079,112–136080956 | 76 | X | Oocyte_gDMR | ||
| FAM50B:TSS-DMR | chr6:3,848,847–3,850,125 | 90 | NC | Oocyte_gDMR | ||
| PLAGL1:alt-TSS-DMR | PLAGL1, ZAC1, 6q24 | TNDM | chr6:144,006,940–144008751 | 143 | CA | Oocyte_gDMR |
| IGF2R:Int2-DMR | chr6:160,005,525–160006529 | 74 | NC | Oocyte_gDMR | ||
| WDR27:Int13-DMR | chr6:169,654,407–169655522 | 58 | X | Oocyte_gDMR | ||
| GRB10:alt-TSS-DMR | GRB10 | MLID (ZFP57); upd[7]mat, SRS | chr7:50,781,028–50783615 | 171 | CA | Oocyte_gDMR |
| PEG10:TSS-DMR | chr7:94,656,224–94,658,648 | 119 | NC | Oocyte_gDMR | ||
| MEST:alt-TSS-DMR | MEST | upd(7)mat, SRS | chr7:130,490,280–130494547 | 226 | CA | Oocyte_gDMR |
| SVOPL:alt-TSS-DMR | chr7:138,663,372–138,664,324 | 74 | NC | Oocyte_gDMR | ||
| HTR5A:TSS-DMR | chr7:155,071,008–155071672 | 55 | NC | Oocyte_gDMR | ||
| ERLIN2:Int6-DMR | chr8:37,747,473–37,748,570 | 37 | NC | Oocyte_gDMR | ||
| PEG13:TSS-DMR | chr8:140,098,047–140100982 | 193 | NC | Oocyte_gDMR | ||
| FANCC:Int1-DMR | chr9:95,313,117–95,313,462 | 26 | NC | Oocyte_gDMR | ||
| INPP5F:Int2-DMR | chr10:119,818,533–119,819,215 | 52 | X | Oocyte_gDMR | ||
| H19/IGF2:IG-DMR & TSS-DMR | IC1, H19 | SRS/BWS | chr11:1,997,581–2,003,510 | 250 | CA* | Sperm_gDMR |
| IGF2:Ex9-DMR | SRS/BWS | chr11:2,132,760–2133882 | 63 | CA | secondary_DMR | |
| IGF2:alt-TSS-DMR | SRS | chr11:2,147,102–2148538 | 33 | CA | Sperm_gDMR | |
| KCNQ1OT1:TSS-DMR | IC2, KvDMR | BWS | chr11:2,698,717–2,701,029 | 192 | CA | Oocyte_gDMR |
| RB1:Int2-DMR | chr13:48,318,204–48321627 | 195 | NC | Oocyte_gDMR | ||
| MEG3/DLK1:IG-DMR | IG-DMR | TS14/KOS14 | chr14:100,809,089–100811721 | 64 | CA | Sperm_gDMR |
| MEG3:TSS-DMR | MEG3 | TS14/KOS14 | chr14:100,824,186–100827641 | 188 | CA* | secondary_DMR |
| MEG8:Int2-DMR | chr14:100,904,403–100905082 | 43 | X | secondary_DMR | ||
| MKRN3:TSS-DMR | chr15:23,561,938–23,567,348 | 109 | X | Oocyte_gDMR-secondary_DMR | ||
| MAGEL2:TSS-DMR | chr15:23,647,277–23,648,882 | 51 | NC | secondary_DMR | ||
| NDN:TSS-DMR | chr15:23,686,303–23687612 | 108 | NC | secondary_DMR | ||
| SNRPN:alt-TSS-DMR | chr15:24,823,416–24,824,334 | 19 | NC | secondary_DMR | ||
| SNURF:TSS-DMR | SNRPN | PWS/AS | chr15:24,954,856–24,956,829 | 113 | CA | Oocyte_gDMR |
| IGF1R:Int2-DMR | chr15:98,865,266–98,866,421 | 55 | NC | Oocyte_gDMR | ||
| ZNF597:3-DMR | chr16:3,431,800–3432388 | 29 | NC | Oocyte_gDMR | ||
| ZNF597:TSS-DMR | upd(16)mat | chr16:3,442,827–3,444,463 | 76 | NC | secondary_DMR | |
| ZNF331:alt-TSS-DMR1 | chr19:53,537,255–53,538,958 | 125 | NC | Oocyte_gDMR | ||
| ZNF331:alt-TSS-DMR2 | chr19:53,553,831–53,555,171 | 102 | NC | Oocyte_gDMR | ||
| PEG3:TSS-DMR | MLID (ZFP57) | chr19:56,837,124–56,841,903 | 221 | CA | Oocyte_gDMR | |
| MCTS2P:TSS-DMR | chr20:31,546,859–31,548,130 | 47 | NC | Oocyte_gDMR | ||
| NNAT:TSS-DMR | chr20:37,520,201–37522126 | 135 | NC | Oocyte_gDMR | ||
| L3MBTL1:alt-TSS-DMR | chr20:43,513,724–43,515,400 | 84 | NC | Oocyte_gDMR | ||
| GNAS-NESP:TSS-DMR | PHP | chr20:58,838,983–58,843,557 | 257 | CA | secondary_DMR | |
| GNAS-AS1:TSS-DMR | NESP-AS | PHP, upd(20)mat | chr20:58,850,593–58852978 | 128 | CA | Oocyte_gDMR |
| GNAS-XL:Ex1-DMR | PHP | chr20:58,853,849–58,856,408 | 200 | CA | Oocyte_gDMR | |
| GNAS-A/B:TSS-DMR | GNAS A/B | PHP, upd(20)mat | chr20:58,888,209–58890146 | 198 | CA* | secondary_DMR |
| WRB:alt-TSS-DMR | chr21:39,385,583–39,386,350 | 43 | NC | Oocyte_gDMR | ||
| SNU13:alt-TSS-DMR | chr22:41,681,769–41,682,869 | 63 | NC | Oocyte_gDMR |
Clinically associated (CA) is a pragmatic category of loci currently included in diagnostic tests, including direct causative loci, those for upd(7)mat, and those for stratification of TNDM cases caused by ZFP57 mutations. The majority of germline (g) imprinted loci not in the CA group but are in the non-clinical (NC) group. Xgermline imprinted loci whose methylation shows further polymorphic, somatic or tissue-specific variation; DNA methylation at these loci is not interpretable in relation to clinical imprinting disorders. In imprinted loci with multiple CA-DMRs, the DMR most important for molecular diagnosis is marked with an asterisk (*)