Transcriptional analysis of the human D4Z4 and mouse Dux arrays
Hampson, Amanda (2012) Transcriptional analysis of the human D4Z4 and mouse Dux arrays. PhD thesis, University of Nottingham.
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy in Caucasians. FSHD is caused by contraction of a 3.3kb repeat array, D4Z4, to below 11 repeat units. Each of these repeat units contains an ORF encoding the DUX4 gene and at the beginning of the work described in this thesis expression of transcripts from the most distal repeat of this D4Z4 array had been reported. However, expression data from the DUX4 gene was new and most research focussed on contraction of the array having a position affect on the expression of neighbouring genes.
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