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Nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity: implications for the facioscapulohumeral dystrophyстатья
Статья опубликована в высокорейтинговом журнале
Информация о цитировании статьи получена из
Web of Science,
Scopus
Статья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 24 мая 2016 г.
- Авторы: Petrov A., Allinne J., Pirozhkova I., Laoudj D., Lipinski M., VASSETZKY Y.S.
- Журнал: Genome Research
- Том: 18
- Год издания: 2008
- Издательство: Cold Spring Harbor Laboratory Press
- Местоположение издательства: United States
- Первая страница: 39
- Последняя страница: 45
- DOI: 10.1101/gr.6620908
- Аннотация: Facio-scapulo-humeral dystrophy (FSHD), a muscular hereditary disease with a prevalence of 1 in 20,000, is caused by a partial deletion of a subtelomeric repeat array on chromosome 4q. Earlier, we demonstrated the existence in the vicinity of the D4Z4 repeat of a nuclear matrix attachment site, FR-MAR, efficient in normal human myoblasts and nonmuscular human cells but much weaker in muscle cells from FSHD patients. We now report that the D4Z4 repeat contains an exceptionally strong transcriptional enhancer at its 5'-end. This enhancer up-regulates transcription from the promoter of the neighboring FRG1 gene. However, an enhancer blocking activity was found present in FR-MAR that in vitro could protect transcription from the enhancer activity of the D4Z4 array. In vivo, transcription from the FRG1 and FRG2 genes could be down- or up-regulated depending on whether or not FR-MAR is associated with the nuclear matrix. We propose a model for an etiological role of the delocalization of FR-MAR in the genesis of FSHD.
- Добавил в систему: Васецкий Егор Сергеевич