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UR Medicine / Neurology / FSHD Research Center / Information for Researchers / Sharing Biological Resources


Sharing Biological Resources

The principal mission of the Fields Center for FSHD and Neuromuscular Research is to accelerate the pace of research and discovery in FSHD. Crucial to this mission is the availability of high-quality biological resources that can be shared with other investigators. To this end, Fields Center researchers at the University of Rochester and Leiden University Medical Center have generated a large number of biological samples from carefully characterized individuals with FSHD as well as normal controls.

Available Biological Samples:

Samples are collected and subjects are evaluated after informed consent is obtained. All procedures are performed under standardized protocols to assure sample and data quality. Genotyping for all subjects is performed at Leiden University Medical Center. The samples consist of:

  • Muscle samples: Muscle biopsy samples (quadriceps and tibialis anterior) are obtained by needle muscle biopsy technique to generate samples suitable for; RNA and protein studies; for histologic evaluation by routine histochemistry or IHC.
  • Myoblast cell lines: Myoblast cell lines generated from the muscle biopsy samples obtained above.
  • Fibroblasts cells lines: Fibroblast cell lines generated from skin punch biopsies.
  • Genetic and clinical characterization: All samples are derived from subjects who undergo a detailed clinical evaluation. Detailed genotyping is performed as well to fully characterize all samples. The clinical evaluation includes measurement of overall disease severity score, age of symptom onset, the strength of the muscle sampled, and the severity of the underlying pathological changes. Genetic analysis includes D4Z4 repeat size analysis on chromosomes 4 and 10, haplotype analysis (4qA or 4qB backgrounds and SSLP analysis) and D4Z4 methylation analysis. The details of the methods used to collect and characterize these samples are available here.
  • Normal control biological samples: In addition to the FSHD biological samples described above, the Fields center has a similar profile of normal control samples.

These high quality biological samples have been shared among Fields Center collaborators as well as with numerous non-Fields Center investigators within the FSHD research community. Multiple studies and a number of manuscripts were published using biological samples generated by the Fields Center (see reference list below).

Requesting Biological Samples:

Investigators interested in obtaining biological samples should contact the Fields Center by clicking on email link at the bottom of the page. Alternately, investigators can contact one of the Fields Center investigators directly.

Relevant information provided with the biological samples include:


  1. Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics. 20121; 7(6).

  2. Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG. PLoS One. 2012;7(4):e35532.

  3. Balog J, Thijssen PE, de Greef J C, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics. 2012 Jun 1;7(6).
  4. Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D. A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy Cell.  2012 May 11;149(4):819-31.

  5. Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010 Oct 28;6(10):e1001181.
  6. Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M. Gene expression during normal and FSHD myogenesis. BMC Med Genomics. 2011 Sep 27;4:67.

  7. de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010 Oct 26;75(17):1548-54.
  8. Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, Jan van Ommen G, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. Science 2010 Sep 24;329(5999):1650-3.
  9. Tsumagari K, Chen D, Hackman JR, Bossler AD, Ehrlich M.FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease. J Med Genet. 2010 Nov;47(11):745-51 .
  10. Xu X, Tsumagari K, Sowden J, Tawil R, Boyle AP, Song L, Furey TS, Crawford GE, Ehrlich M. DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2. Nucleic Acids Res. 2009 Dec;37(22):7381-93.
  11. Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. Eur J Hum Genet. 2010 Apr;18(4):448-56.
  12. Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 2009 Jul;5(7):e1000559.
  13. de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009 Oct;30(10):1449-59.
  14. Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. RNA Transcripts, miRNA-sized Fragments, and Proteins Produced from D4Z4 Units: New Candidates for the Pathophysiology of Facioscapulohumeral Dystrophy. Hum Mol Genet. 2009 Apr 9. [Epub ahead of print] PMID: 19359275
  15. Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur J Hum Genet. 2009 Dec;17(12):1615-24. 2009 Oct 7.
  16. Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M. Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.  Nucleic Acids Res. 2008 Apr;36(7):2196-207.

  17. Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology. 2007 Feb 20;68(8):569-77.
  18. Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet. 2004 Nov;41(11):826-36.

  19. Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.  Mol Genet Metab. 2001 Nov;74(3):322-31.

  20. Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. 2003 May;13(4):322-33