Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene. [3] . Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD). This gene is located within a D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4q35.

The DUX4 gene is located near the end of chromosome 4 in a region known as D4Z4. Learn about this gene and related health conditions.

2024年12月24日 · DUX4 (Double Homeobox 4) is a Protein Coding gene. Diseases associated with DUX4 include Facioscapulohumeral Muscular Dystrophy 1 and Soft Tissue Sarcoma. Among its related pathways are RNA Polymerase I Promoter Opening and Nervous system development.

One of the most prominent features of the subtelomere of chromosome 4q is a large polymorphic repeat structure consisting of 1–100 KpnI units, designated “D4Z4” (van Deutekom et al. 1993; Hewitt et al. 1994). These units, each 3.3 kb in size, are ordered in a head-to-tail orientation and show very little sequence diversity.

Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long.

The region of human chromosomes that causes FSHD contains a section with multiple identical units of DNA called D4Z4 repeats. The number of D4Z4 repeat units in the general population varies from 11 to 100. Each repeat contains a copy of a gene called DUX4.

2019年7月8日 · Multiple copies of a 3.3-kb repeat, designated D4Z4, exist in the proximal subtelomeric region of 4q35. Each repeat contains a copy of DUX4. The polymorphic D4Z4 repeat array is composed of 11 to 150 repeats in normal individuals.

2020年12月10日 · Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is...

2017年11月1日 · Here, we applied a nanopore-based ultra-long read sequencer to sequence a BAC clone containing 13 D4Z4 repeats and flanking regions. We successfully obtained the whole D4Z4 repeat sequence,...

1995年8月10日 · D4Z4 is a complex repeat: it contains a novel homeobox sequence and two other repetitive sequence motifs. In most sporadic FSHD cases, a specific DNA rearrangement, deletion of copies of the repeat at D4Z4, is associated with development of the disease.