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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease is associated with DNA rearrangements which are detectable using probe p13E-11 (D4F104S1) in DNA digested with EcoRI or other restriction enzymes. We have cloned and characterized the rearranged EcoRI fragment of four unrelated FSHD patients. Restriction fragment mapping and DNA sequence analysis showed that the proximal and distal parts of the EcoRI fragment, which flank a region of tandemly repeated 3.2 kb units, are identical in normal and rearranged EcoRI fragments. These results strongly support the hypothesis that the FSHD associated rearrangements are due to deletions of integral copies of the 3.2 kb repeated unit. Since these repeated units are likely to form part of the FSHD transcription unit, the variation in repeat unit number might affect the function of the gene product. Hence, our data confine the FSHD gene region and thus provide a starting point for cloning the FSHD gene.
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Citations
Cited by
Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
Kleinjan, D. A., & van Heyningen, V. (2005) · The American Journal of Human Genetics · doi:10.1086/426833 · Cited by 873
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., Straasheijm, K. R., Jan van Ommen, G., Padberg, G. W., et al. (2010) · Science · doi:10.1126/science.1189044 · Cited by 788
Self-citationFacioscapulohumeral muscular dystrophy
Tawil, R., & Van Der Maarel, S. M. (2006) · Muscle & Nerve · doi:10.1002/mus.20522 · Cited by 441
van den Boogaard, M. L., Lemmers, R. J. L. F., Balog, J., Wohlgemuth, M., Auranen, M., Mitsuhashi, S., van der Vliet, P. J., Straasheijm, K. R., van den Akker, R. F. P., Kriek, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.013 · Cited by 265
Tawil, R., Kissel, J. T., Heatwole, C., Pandya, S., Gronseth, G., & Benatar, M. (2015) · Neurology · doi:10.1212/wnl.0000000000001783 · Cited by 234
Metadata
- Authors
- Deutekom, J. C. T. V., Wljmenga, C., Tlenhoven, E. A. E. V., Gruter, A.-M., Hewitt, J. E., Padberg, G. W., Ommen, G.-J. B. V., Hofker, M. H., & Fronts, R. R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1993
- Volume
- 2
- Issue
- 12
- Pages
- 2037-2042
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1964930281
- Cited by
- 537
- References
- 0
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. https://app.cochat.ai/papers/10.1093/hmg/2.12.2037
- The paper
- Deutekom, J. C. T. V., Wljmenga, C., Tlenhoven, E. A. E. V., Gruter, A.-M., Hewitt, J. E., Padberg, G. W., Ommen, G.-J. B. V., Hofker, M. H., & Fronts, R. R. (1993). FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Human Molecular Genetics. https://doi.org/10.1093/hmg/2.12.2037
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