Genetic "lnc"-age of noncoding RNAs to human disease

Journal of Clinical Investigation

Volumn 122, Issue 11, 2012, Pages 3837-3840

  Troy, Andrew ^a   Sharpless, Norman E ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

UNTRANSLATED RNA;

BRACHYDACTYLY; BRACHYDACTYLY TYPE E; GENETIC ASSOCIATION; HELLP SYNDROME; HUMAN; NOTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ANIMALS; BRACHYDACTYLY; CELL CYCLE; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; GENETIC LOCI; HELLP SYNDROME; HUMANS; MALE; PREGNANCY; RNA, LONG UNTRANSLATED; TRANSLOCATION, GENETIC; TROPHOBLASTS;

EID: 84868622570     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI66645     Document Type: Note

References (22)

1. Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57-74.
2. Rinn JL, Chang HY. Genome regulation by long noncoding RNAs. Annu Rev Biochem. 2012;81:145-166.
3. van Dijk M, et al. HELLP babies link a novel lincRNA to the trophoblast cell cycle. J Clin Invest. 2012;122(11):4003-4011.
4. Maass PG, et al. A misplaced lncRNA causes brachydactyly in humans. J Clin Invest. 2012;122(11):3990-4002.
5. Lee JT. Lessons from X-chromosome inactivation: long ncRNA as guides and tethers to the epigenome. Genes Dev. 2009;23(16):1831-1842.
6. Koerner MV, Pauler FM, Huang R, Barlow DP. The function of non-coding RNAs in genomic imprinting. Development. 2009;136(11):1771-1783.
7. Martianov I, Ramadass A, Serra Barros A, Chow N, Akoulitchev A. Repression of the human dihydrofolate reductase gene by a non-coding interfering transcript. Nature. 2007;445(7128):666-670. (Pubitemid 46232888)
8. Wang KC, Chang HY. Molecular mechanisms of long noncoding RNAs. Mol Cell. 2011;43(6):904-914.
9. Guttman M, et al. lincRNAs act in the circuitry controlling pluripotency and differentiation. Nature. 2011;477(7364):295-300.
10. Garcia CK, Wright WE, Shay JW. Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res. 2007;35(22):7406-7416.
11. Tsakiri KD, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007;104(18):7552-7557. (Pubitemid 47185944)
12. Armanios MY, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007;356(13):1317-1326. (Pubitemid 46513297)
13. Yamaguchi H, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003;102(3):916-918. (Pubitemid 36917783)
14. Vulliamy T, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413(6854):432-435. (Pubitemid 32928599)
15. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002;359(9324):2168-2170. (Pubitemid 34694028)
16. Cabianca DS, et al. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell. 2012;149(4):819-831.
17. Jeck WR, Siebold AP, Sharpless NE. Review: a meta-analysis of GWAS and age-associated diseases. Aging Cell. 2012;11(5):727-731.
18. Harismendy O, et al. 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response. Nature. 2011;470(7333):264-268.
19. Liu Y, et al. INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. PLoS One. 2009;4(4):e5027.
20. Burd CE, Jeck WR, Liu Y, Sanoff HK, Wang Z, Sharpless NE. Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. PLoS Genet. 2010;6(12):e1001233.
21. Lachmeijer AM, et al. A genome-wide scan for preeclampsia in the Netherlands. Eur J Hum Genet. 2001;9(10):758-764. (Pubitemid 33014588)
22. Maass PG, et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet. 2010;19(5):848-860.