DUX4: Difference between revisions

Latest revision as of 16:29, 16 February 2025

DUX4[edit]

File:A schematic of D4Z4 locus on chromosome 4.jpg

Schematic of the D4Z4 locus on chromosome 4.

DUX4 is a gene located on chromosome 4 in humans. It is part of the D4Z4 repeat array, which is a region of repetitive DNA sequences. The DUX4 gene is known for its role in the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD), a genetic muscle disorder.

Structure[edit]

The DUX4 gene is embedded within the D4Z4 repeat array, which consists of multiple tandem repeats. Each repeat unit is approximately 3.3 kilobases in length. The DUX4 gene is located at the distal end of the D4Z4 array and is transcribed from the last repeat unit.

Function[edit]

DUX4 encodes a transcription factor that is normally expressed during early embryogenesis. It plays a role in the regulation of gene expression during early development. In healthy individuals, DUX4 expression is tightly controlled and is typically silenced in adult tissues.

Role in Disease[edit]

In individuals with FSHD, there is a contraction of the D4Z4 repeat array, leading to the inappropriate expression of the DUX4 gene in muscle cells. This aberrant expression of DUX4 is toxic to muscle cells and leads to the progressive muscle weakness and wasting characteristic of FSHD.

Mechanism of Pathogenesis[edit]

The pathogenesis of FSHD involves the loss of epigenetic repression at the D4Z4 locus, allowing for the expression of the DUX4 gene. The toxic effects of DUX4 expression in muscle cells include the activation of apoptosis and the disruption of normal muscle cell function.

Research and Therapeutic Approaches[edit]

Research into DUX4 and its role in FSHD is ongoing. Therapeutic approaches aim to silence the expression of DUX4 or to mitigate its toxic effects in muscle cells. Strategies include the use of antisense oligonucleotides, gene therapy, and small molecule inhibitors.

Related Pages[edit]

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-'''DUX4''' is a [[gene]] that encodes a [[protein]] in humans. This protein is a transcription factor, which means it helps control the activity of other genes. The DUX4 gene is located on the [[chromosome|chromosome 4]] in a region known as the D4Z4 [[repeat sequence]].
+== DUX4 ==
+[[File:A_schematic_of_D4Z4_locus_on_chromosome_4.jpg|thumb|right|Schematic of the D4Z4 locus on chromosome 4.]]
+'''DUX4''' is a [[gene]] located on [[chromosome 4]] in humans. It is part of the [[D4Z4]] repeat array, which is a region of repetitive DNA sequences. The DUX4 gene is known for its role in the [[pathogenesis]] of [[facioscapulohumeral muscular dystrophy]] (FSHD), a genetic muscle disorder.
+== Structure ==
+The DUX4 gene is embedded within the D4Z4 repeat array, which consists of multiple tandem repeats. Each repeat unit is approximately 3.3 kilobases in length. The DUX4 gene is located at the distal end of the D4Z4 array and is transcribed from the last repeat unit.
 == Function ==
-The DUX4 protein is believed to play a role in early [[embryo|embryonic development]]. However, its exact function is not well understood. Some research suggests that the DUX4 protein may be involved in the development of [[muscle cells]], while other studies indicate that it may play a role in the regulation of [[gene expression]] during early development.
+DUX4 encodes a transcription factor that is normally expressed during early [[embryogenesis]]. It plays a role in the regulation of [[gene expression]] during early development. In healthy individuals, DUX4 expression is tightly controlled and is typically silenced in adult tissues.
 == Role in Disease ==
-Mutations in the DUX4 gene are associated with a rare genetic disorder called [[Facioscapulohumeral muscular dystrophy|Facioscapulohumeral muscular dystrophy (FSHD)]]. This condition is characterized by progressive weakness and loss of skeletal muscles. It is one of the most common forms of muscular dystrophy.
-In people with FSHD, the DUX4 gene is abnormally activated in muscle cells. This leads to the production of a toxic DUX4 protein that damages muscle cells and leads to the symptoms of FSHD. The exact mechanism by which the DUX4 protein causes muscle damage is not fully understood.
+In individuals with FSHD, there is a contraction of the D4Z4 repeat array, leading to the inappropriate expression of the DUX4 gene in muscle cells. This aberrant expression of DUX4 is toxic to muscle cells and leads to the progressive muscle weakness and wasting characteristic of FSHD.
+== Mechanism of Pathogenesis ==
+The pathogenesis of FSHD involves the loss of epigenetic repression at the D4Z4 locus, allowing for the expression of the DUX4 gene. The toxic effects of DUX4 expression in muscle cells include the activation of [[apoptosis]] and the disruption of normal muscle cell function.
-== Research ==
+== Research and Therapeutic Approaches ==
-Research is ongoing to better understand the function of the DUX4 gene and its role in disease. This includes studies to identify the specific mechanisms by which the DUX4 protein damages muscle cells in FSHD. Other research is focused on developing therapies that can block the activity of the DUX4 gene or neutralize the toxic effects of the DUX4 protein.
-== See Also ==
+Research into DUX4 and its role in FSHD is ongoing. Therapeutic approaches aim to silence the expression of DUX4 or to mitigate its toxic effects in muscle cells. Strategies include the use of [[antisense oligonucleotides]], [[gene therapy]], and small molecule inhibitors.
-* [[Gene]]
-* [[Protein]]
+== Related Pages ==
+* [[Facioscapulohumeral muscular dystrophy]]
+* [[Chromosome 4]]
+* [[Gene expression]]
 * [[Transcription factor]]
-* [[Chromosome]]
-* [[Repeat sequence]]
-* [[Embryonic development]]
-* [[Muscle cells]]
-* [[Gene expression]]
-* [[Facioscapulohumeral muscular dystrophy]]
-* [[Muscular dystrophy]]
-[[Category:Genes]]
+{{Genetics}}
-[[Category:Proteins]]
+{{Muscular dystrophy}}
+[[Category:Genes on human chromosome 4]]
 [[Category:Transcription factors]]
-[[Category:Chromosomes]]
-[[Category:Repeat sequences]]
-[[Category:Embryonic development]]
-[[Category:Muscle cells]]
-[[Category:Gene expression]]
-[[Category:Facioscapulohumeral muscular dystrophy]]
 [[Category:Muscular dystrophy]]
-{{Genetics-stub}}
-{{Medicine-stub}}