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Table 1 LncRNA participating in the pathogenesis of human hereditary diseases

From: The role of long non-coding RNAs in the pathogenesis of hereditary diseases

Disease LncRNA Mechanism reference
1. Angelman syndrome UBE3A-ATS Antisense transcription [37]
2. Prader-willi syndrome sno-lncRNAs Splicing regulation [40]
3. Beckwith-Wiedemann syndrome KCNQ1OT1 Recruitment of chromatin-modifying complexes [36]; [59]
4. Silver-Russell syndrome H19 Recruitment of chromatin-modifying complexes; miRNA dependent mechanism [51,52,53,54,55,56,57,58]
5.Pseudohypoparathyroidism type 1b A\S-1 Antisense transcription [63, 64]
  A\B Antisense transcription [61, 62]
6. Alzheimer disease BACE1-AS RNA-RNA duplex formation [45]
  LPR1-AS Recruitment of chromatin-modifying complexes [68]
  51А Splicing regulation [42]
  17А Splicing regulation [73]
  ciRS −7 miRNA dependent mechanism [75,76,77]
7. Huntington disease HTTAS miRNA dependent mechanism [79]
8. Spinocerebellar ataxia type 7 SCAANT1 Antisense transcription [39]
  lnc-SCA7 miRNA dependent mechanism [83]
9. Spinocerebellar ataxia type 8 ATXN8OS Splicing regulation [41]
10. Facioscapulohumeral muscular dystrophy DBE-T Recruitment of chromatin-modifying complexes [36]
11. Spinal muscular atrophy SMN-AS1 Recruitment of chromatin-modifying complexes [97]
12. Alpha thalassemia LUC7 Antisense transcription [99]
13. Opitz-Kaveggia syndrome ncRNA-a Recruitment of chromatin-modifying complexes [102]
14. Hirschsprung disease cir-ZNF609 miRNA dependent mechanism [43]
15. Cartilage-hair hypoplasia RMRP miRNA dependent mechanism [44]