Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene

PLoS Genetics

Volumn 6, Issue 10, 2010, Pages 1-14

  Snider, Lauren ^a   Geng, Linda N ^a   Lemmers, Richard J L F ^b   Kyba, Michael ^c   Ware, Carol B ^d   Nelson, Angelique M ^d   Tawil, Rabi ^e   Filippova, Galina N ^d   van der Maarel, Silvère M ^b   Tapscott, Stephen J ^a,d   Miller, Daniel G ^f  

^a Fred Hutchinson Cancer Research Center   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DUX4 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MESSENGER RNA; MUSCLE PROTEIN; PROTEIN DUX4; UNCLASSIFIED DRUG;

ADULT; ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ANIMAL; ARTICLE; C57BL MOUSE; CELL DIFFERENTIATION; CELL LINE; CELL STRAIN HCT116; CHROMOSOME 10; CHROMOSOME 4; CLINICAL ARTICLE; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MALE; METABOLISM; MOLECULAR GENETICS; MOUSE; MOUSE MUTANT; MUSCLE BIOPSY; MUSCLE CELL; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOLOGY; PLURIPOTENT STEM CELL; PROTEIN EXPRESSION; RETROPOSON; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SKELETAL MUSCLE; TESTIS; UNTRANSLATED REGION; VASTUS LATERALIS MUSCLE; WESTERN BLOTTING;

ADULT; ANIMALS; BLOTTING, WESTERN; CELL LINE; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; HCT116 CELLS; HOMEODOMAIN PROTEINS; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MALE; METABOLISM; MICE; MICE, INBRED C57BL; MICE, SCID; MOLECULAR SEQUENCE DATA; MUSCLE CELLS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PATHOLOGY; REPETITIVE SEQUENCES, NUCLEIC ACID; RETROELEMENTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING;

IPS;

EID: 78449250235     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001181     Document Type: Article

References (26)

1. Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, et al. (2007) Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 81: 884-894.
2. Tawil R, Van Der Maarel SM (2006) Facioscapulohumeral muscular dystrophy. Muscle Nerve 34: 1-15.
3. Zeng W, de Greef JC, Chen YY, Chien R, Kong X, et al. (2009) Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 5: e1000559. doi:10.1371/journal.pgen.1000559.
4. van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, et al. (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35: 315-317.
5. de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, et al. (2009) Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 30: 1449-1459.
6. Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, et al. (2007) Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 81: 264-279.
7. Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, et al. (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104: 18157-18162.
8. Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, et al. (2010) A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. Science Epub ahead of print.
9. Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, et al. (2009) RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 18: 2414-2430.
10. Geng LN, Tyler AE, Tapscott SJ (2010) Immunodetection of human double homeobox 4. Hybridoma, in press.
11. Bosnakovski D, Daughters RS, Xu Z, Slack JM, Kyba M (2009) Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One 4: e7003. doi:10.1371/journal.pone.0007003.
12. Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, et al. (2008) An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 27: 2766-2779.
13. Wu SL, Tsai MS, Wong SH, Hsieh-Li HM, Tsai TS, et al. Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl. Dev Dyn 239: 927-940.
14. Andrews PW, Bronson DL, Benham F, Strickland S, Knowles BB (1980) A comparative study of eight cell lines derived from human testicular teratocarcinoma. Int J Cancer 26: 269-280.
15. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, et al. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131: 861-872.
16. Luco RF, Pan Q, Tominaga K, Blencowe BJ, Pereira-Smith OM, et al. Regulation of Alternative Splicing by Histone Modifications. Science.
17. Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, et al. (2007) The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 17: 611-623.
18. Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, et al. (2008) DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol.
19. Tam OH, Aravin AA, Stein P, Girard A, Murchison EP, et al. (2008) Pseudogene-derived small interfering RNAs regulate gene expression in mouse oocytes. Nature 453: 534-538.
20. Watanabe T, Totoki Y, Toyoda A, Kaneda M, Kuramochi-Miyagawa S, et al. (2008) Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes. Nature 453: 539-543.
21. Booth HA, Holland PW (2007) Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line. Gene 387: 7-14.
22. Allo M, Buggiano V, Fededa JP, Petrillo E, Schor I, et al. (2009) Control of alternative splicing through siRNA-mediated transcriptional gene silencing. Nat Struct Mol Biol 16: 717-724.
23. Ji Z, Tian B (2009) Reprogramming of 39 untranslated regions of mRNAs by alternative polyadenylation in generation of pluripotent stem cells from different cell types. PLoS One 4: e8419. doi:10.1371/journal.pone.0008419.
24. Kaessmann H, Vinckenbosch N, Long M (2009) RNA-based gene duplication: mechanistic and evolutionary insights. Nat Rev Genet 10: 19-31.
25. Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, et al. (2009) An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325: 995-998.
26. Nelson JD, Denisenko O, Bomsztyk K (2006) Protocol for the fast chromatin immunoprecipitation (ChIP) method. Nat Protoc 1: 179-185.