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Repetitive sequences account for more than 50% of the human genome. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease associated with reduction in the copy number of the D4Z4 repeat mapping to 4q35. By an unknown mechanism, D4Z4 deletion causes an epigenetic switch leading to de-repression of 4q35 genes. Here we show that the Polycomb group of epigenetic repressors targets D4Z4 in healthy subjects and that D4Z4 deletion is associated with reduced Polycomb silencing in FSHD patients. We identify DBE-T, a chromatin-associated noncoding RNA produced selectively in FSHD patients that coordinates de-repression of 4q35 genes. DBE-T recruits the Trithorax group protein Ash1L to the FSHD locus, driving histone H3 lysine 36 dimethylation, chromatin remodeling, and 4q35 gene transcription. This study provides insights into the biological function of repetitive sequences in regulating gene expression and shows how mutations of such elements can influence the progression of a human genetic disease.
Pubmed ID: 22541069
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Biomedical and genomic research center located in Cambridge, Massachusetts, United States. Nonprofit research organization under the name Broad Institute Inc., and is partners with Massachusetts Institute of Technology, Harvard University, and the five Harvard teaching hospitals. Dedicated to advance understanding of biology and treatment of human disease to improve human health.
View all literature mentionsSince 1990 Telethon, along with millions of Italians, has stepped up to the challenge of beating muscular dystrophy and the other genetic diseases. It is a marathon against time, because there are many people who live with these rare disorders, and the resources to deal with them have to be carefully measured out because there is not much public or private funding invested in this field of research, and the path to finding cures is often long and tortuous. The foundation In order to guarantee as much research funding as possible into muscular dystrophy and other genetic diseases, the Telethon team works throughout the year and has adopted a management system for the donated funds that is strict and efficient. For every euro raised by Telethon, about eighty euro cents reach the cutting edge laboratories and excellent research centers. Scientific area The selection of the best research projects, the funding of dedicated researchers and the foundation and maintenance of its research institutes make Telethon a point of Italian excellence in the world. Along with recognition from the international scientific community, Telethon's world of research is the biggest ally of all the people who live with muscular dystrophy or other genetic disorders every day. The online database provides complete information about the projects funded by Telethon from 1991 to the present. The archive contains information about all the Foundation's efforts in the field of biomedical research. In addition to a search by disease, it is possible, using the advanced search function, to interrogate the database by groups of disorders, by the name of a researcher or research institute, or by the town, province, or region where projects are based. The use of another search filter makes it possible to check which research projects are ongoing and which have come to an end.
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