Page 17 - Read Online

Cantone Reversal of X chromosome inactivation

NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits 24. McHugh CA, Chen CK, Chow A, Surka CF, Tran C, McDonel P,
is not dominant or recessive, just X-linked. Am J Med Genet A Pandya-Jones A, Blanco M, Burghard C, Moradian A, Sweredoski MJ,
2004;129A:136-43. Shishkin AA, Su J, Lander ES, Hess S, Plath K, Guttman M. The Xist
6. Franco B, Ballabio A. X-inactivation and human disease: X-linked lncRNA interacts directly with SHARP to silence transcription through
dominant male-lethal disorders. Curr Opin Genet Dev 2006;16:254-9. HDAC3. Nature 2015;521:232-6.
7. Daoud H, Rouleau GA. A role for ubiquilin 2 mutations in 25. Minajigi A, Froberg JE, Wei C, Sunwoo H, Kesner B, Colognori D,
neurodegeneration. Nat Rev Neurol 2011;7:599-600. Lessing D, Payer B, Boukhali M, Haas W, Lee JT. Chromosomes.
8. Sugino K, Hempel CM, Okaty BW, Arnson HA, Kato S, Dani VS, A comprehensive Xist interactome reveals cohesin repulsion and an
Nelson SB. Cell-type-specific repression by methyl-CpG-binding RNA-directed chromosome conformation. Science 2015;349:aab2276.
protein 2 is biased toward long genes. J Neurosci 2014;34:12877-83. 26. Moindrot B, Cerase A, Coker H, Masui O, Grijzenhout A, Pintacuda G,
9. Ross PD, Guy J, Selfridge J, Kamal B, Bahey N, Tanner KE, Schermelleh L, Nesterova TB, Brockdorff N. A pooled shRNA screen
Gillingwater TH, Jones RA, Loughrey CM, McCarroll CS, Bailey identifies Rbm15, Spen, and Wtap as factors required for Xist RNA-
ME, Bird A, Cobb S. Exclusive expression of MeCP2 in the nervous mediated silencing. Cell Rep 2015;12:562-72.
system distinguishes between brain and peripheral Rett syndrome-like 27. Monfort A, Di Minin G, Postlmayr A, Freimann R, Arieti F, Thore
phenotypes. Hum Mol Genet 2016;25:4389-404. S, Wutz A. Identification of Spen as a crucial factor for Xist function
10. Balaton BP, Brown CJ. Escape Artists of the X Chromosome. Trends through forward genetic screening in haploid embryonic stem cells.
Genet 2016;32:348-59. Cell Rep 2015;12:554-61.
11. Morleo M, Franco B. Dosage compensation of the mammalian 28. Almeida M, Pintacuda G, Masui O, Koseki Y, Gdula M, Cerase
X chromosome influences the phenotypic variability of X-linked A, Brown D, Mould A, Innocent C, Nakayama M, Schermelleh L,
dominant male-lethal disorders. J Med Genet 2008;45:401-8. Nesterova TB, Koseki H, Brockdorff N. PCGF3/5-PRC1 initiates
12. Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Polycomb recruitment in X chromosome inactivation. Science
Edery P. ATRX syndrome in a girl with a heterozygous mutation in the 2017;356:1081-4.
ATRX Zn finger domain and a totally skewed X-inactivation pattern. 29. Sarma K, Cifuentes-Rojas C, Ergun A, Del Rosario A, Jeon Y, White F,
Am J Med Genet A 2006;140:2212-5. Sadreyev R, Lee JT. ATRX directs binding of PRC2 to Xist RNA and
13. Bicocchi MP, Migeon BR, Pasino M, Lanza T, Bottini F, Boeri E, Polycomb targets. Cell 2014;159:869-83.
Molinari AC, Corsolini F, Morerio C, Acquila M. Familial nonrandom 30. Zhao J, Sun BK, Erwin JA, Song JJ, Lee JT. Polycomb proteins
inactivation linked to the X inactivation centre in heterozygotes targeted by a short repeat RNA to the mouse X chromosome. Science
manifesting haemophilia A. Eur J Hum Genet 2005;13:635-40. 2008;322:750-6.
14. Viggiano E, Ergoli M, Picillo E, Politano L. Determining the role of 31. Chaumeil J, Le Baccon P, Wutz A, Heard E. A novel role for Xist RNA
skewed X-chromosome inactivation in developing muscle symptoms in in the formation of a repressive nuclear compartment into which genes
carriers of Duchenne muscular dystrophy. Hum Genet 2016;135:685- are recruited when silenced. Genes Dev 2006;20:2223-37.
98. 32. Plath K, Fang J, Mlynarczyk-Evans SK, Cao R, Worringer KA, Wang
15. Viggiano E, Picillo E, Ergoli M, Cirillo A, Del Gaudio S, Politano L. H, de la Cruz CC, Otte AP, Panning B, Zhang Y. Role of histone H3
Skewed X-chromosome inactivation plays a crucial role in the onset of lysine 27 methylation in X inactivation. Science 2003;300:131-5.
symptoms in carriers of Becker muscular dystrophy. J Gene Med 2017; 33. Heard E, Rougeulle C, Arnaud D, Avner P, Allis CD, Spector DL.
doi: 10.1002/jgm.2952. Methylation of histone H3 at Lys-9 is an early mark on the X
16. Winchester B, Young E, Geddes S, Genet S, Hurst J, Middleton-Price chromosome during X inactivation. Cell 2001;107:727-38.
H, Williams N, Webb M, Habel A, Malcolm S. Female twin with 34. Fang J, Chen T, Chadwick B, Li E, Zhang Y. Ring1b-mediated H2A
Hunter disease due to nonrandom inactivation of the X-chromosome: a ubiquitination associates with inactive X chromosomes and is involved
consequence of twinning. Am J Med Genet 1992;44:834-8. in initiation of X inactivation. J Biol Chem 2004;279:52812-5.
17. Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological 35. de Napoles M, Mermoud JE, Wakao R, Tang YA, Endoh M, Appanah
defects in a mouse model of Rett syndrome. Science 2007;315:1143-7. R, Nesterova TB, Silva J, Otte AP, Vidal M, Koseki H, Brockdorff N.
18. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt Polycomb group proteins Ring1A/B link ubiquitylation of histone H2A to
M, Kutschera I, Vidaud M, Abel U, Dal-Cortivo L, Caccavelli L, heritable gene silencing and X inactivation. Dev Cell 2004;7:663-76.
Mahlaoui N, Kiermer V, Mittelstaedt D, Bellesme C, Lahlou N, 36. Costanzi C, Pehrson JR. Histone macroH2A1 is concentrated in the
Lefrere F, Blanche S, Audit M, Payen E, Leboulch P, l’Homme B, inactive X chromosome of female mammals. Nature 1998;393:599-
Bougneres P, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg 601.
P. Hematopoietic stem cell gene therapy with a lentiviral vector in 37. Hellman A, Chess A. Gene body-specific methylation on the active X
X-linked adrenoleukodystrophy. Science 2009;326:818-23. chromosome. Science 2007;315:1141-3.
19. Polito VA, Cosma MP. IDS crossing of the blood-brain barrier corrects 38. Changolkar LN, Costanzi C, Leu NA, Chen D, McLaughlin KJ,
CNS defects in MPSII mice. Am J Hum Genet 2009;85:296-301. Pehrson JR. Developmental changes in histone macroH2A1-mediated
20. Cardone M, Polito VA, Pepe S, Mann L, D’Azzo A, Auricchio A, gene regulation. Mol Cell Biol 2007;27:2758-64.
Ballabio A, Cosma MP. Correction of Hunter syndrome in the MPSII 39. Leeb M, Wutz A. Ring1B is crucial for the regulation of developmental
mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet control genes and PRC1 proteins but not X inactivation in embryonic
2006;15:1225-36. cells. J Cell Biol 2007;178:219-29.
21. Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher 40. Schoeftner S, Sengupta AK, Kubicek S, Mechtler K, Spahn L, Koseki
AA. Symptoms in carriers of adrenoleukodystrophy relate to skewed X H, Jenuwein T, Wutz A. Recruitment of PRC1 function at the initiation
inactivation. Ann Neurol 2002;52:683-8. of X inactivation independent of PRC2 and silencing. EMBO J
22. Cerase A, Pintacuda G, Tattermusch A, Avner P. Xist localization and 2006;25:3110-22.
function: new insights from multiple levels. Genome Biol 2015;16:166. 41. Zhang LF, Huynh KD, Lee JT. Perinucleolar targeting of the inactive
23. Chu C, Zhang QC, da Rocha ST, Flynn RA, Bharadwaj M, Calabrese X during S phase: evidence for a role in the maintenance of silencing.
JM, Magnuson T, Heard E, Chang HY. Systematic discovery of Xist Cell 2007;129:693-706.
RNA binding proteins. Cell 2015;161:404-16. 42. Csankovszki G, Nagy A, Jaenisch R. Synergism of Xist RNA,

Journal of Translational Genetics and Genomics ¦ Volume 1 ¦ November 16, 2017 11