P574: Structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing*

Genetics in Medicine Open 2026 Open access

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Authors: Rebecca Stubbs, Bryan A. Leland, Priyesh Rughani, Carly Tyer, Kenney Tuyen, Xiaoguang Dai, Tatiana O'Connell-Tilley, Heather Jeffery, Philipp Rescheneder, Phillip James, Scott F. Hickey, Sissel Juul
DOI: 10.1016/j.gimo.2026.104065
Cited by: 0

Abstract

Molecular analysis for facioscapulohumeral muscular dystrophy (FSHD) is complicated by the genomic context of the DUX4 locus. DUX4 lies within the D4Z4 macrosatellite array, which are repetitive units of 3.3 kb each and can be up to 150 copies or ∼500kb in some individuals. They are located at two subtelomeric loci, 4q35 and 10q26, which have >98% sequence identity. FSHD is driven by aberrant DUX4 expression and arises via two genetic mechanisms. In FSHD1, contraction of the D4Z4 repeat array to fewer than 10 units on a permissive 4qA haplotype relaxes chromatin and reduces methylation at DUX4.

Fields of Study & Subjects

Muscle Physiology and Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104065–104065
Publication date
1 January 2026
Language
EN