What is Mef2 gene?
Mef2 is a critical regulator in heart development and cardiac gene expression. In vertebrates, there are four genes in the Mef2 transcription factor family: Mef2a, Mef2b, Mef2c, and Mef2d. Each is expressed at specific times during development.
What does Mef2 stand for?
Myocyte Enhancer Factor 2
MEF2 (Myocyte Enhancer Factor 2) Is Essential for Endothelial Homeostasis and the Atheroprotective Gene Expression Program | Arteriosclerosis, Thrombosis, and Vascular Biology.
What kind of protein is TBX5?
T-box protein 5
TBX5 is located on the long arm of chromosome 12. TBX5 produces a protein called T-box protein 5 that acts as a transcription factor. TBX5 is involved with forelimb and heart development. This gene impacts the early development of the forelimb by triggering fibroblast growth factor, FGF10.
What is a Haploinsufficient gene?
(HA-ploh-IN-suh-FIH-shen-see) The situation that occurs when one copy of a gene is inactivated or deleted and the remaining functional copy of the gene is not adequate to produce the needed gene product to preserve normal function.
What is MEF2C Haploinsufficiency syndrome?
MEF2C haploinsufficiency syndrome is a genetic. condition which affects body development, in particular development of the brain. The condition is also known as “mental retardation, autosomal dominant 20” (MRD20) or “chromosome 5q14. 3 deletion syndrome”. MEF2C haploinsufficiency syndrome was first described in 2009.
Is NFAT a transcription factor?
Nuclear factor of activated T cells (NFAT) is a transcription factor regulated by calcium influx. When phosphorylated, it is confined to the cell cytoplasm where it is inactive. After T-cell activation, the ensuing calcium influx activates the phosphatase calcineurin that activates NFAT by dephosphorylating it.
Where is Tbx5 found?
Tbx5 (T-box transcription factor 5) is a protein of 518 amino acids and a molecular weight of 57,711 Da. It is found in the cell nucleus but there are also reports of its location in the cytosol, cytoskeleton, and Golgi apparatus.
How is Holt-Oram syndrome diagnosed?
The diagnosis of Holt-Oram syndrome is based on physical findings and family history. Hand x-rays are performed for upper limb malformations. Echocardiography, MRI and other imaging modalities and electrocardiography are used to determine the presence and severity of heart defects and/or cardiac conduction disease.
How many genes are haploinsufficient?
The complete list of human haploinsufficient genes, including PubMed references and OMIM entries used for their identification, is available as Supplementary Table 1. Of these 299 identified human haploinsufficient genes, gene function information was associated with 281.
Why are very few genes haploinsufficient?
Haploinsufficiency is sometimes caused due to inability of a single functional copy of a gene to produce a sufficient quantity of an abundant protein, but more often, it is because the gene product is interacting with something else in the cell, and the correct relative amounts are important.
Is Rett syndrome hereditary?
Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.
How do I activate NFAT?
In T cells, NFAT proteins are activated following T-cell receptor (TCR) ligation. Increases in calcium that are induced by TCR engagement activate calcineurin, which causes NFAT dephosphorylation and nuclear translocation.
What is the role of NFAT?
Nuclear factor of activated T-cells (NFAT) is a family of transcription factors shown to be important in immune response. One or more members of the NFAT family is expressed in most cells of the immune system. NFAT is also involved in the development of cardiac, skeletal muscle, and nervous systems.
What does the TBX5 gene do?
The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA.
Is Holt-Oram syndrome genetic?
Holt-Oram syndrome is caused by genetic changes (pathogenic variantss) in the TBX5 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome.
Why do TBX5 mutations affect limbs and heart?
Researchers believe that a change in amino acids impairs the protein’s ability to bind to DNA. As a result of TBX5 mutations, genes that are important for development of the heart and upper limbs are probably not activated. Abnormal development of the heart and upper limbs is characteristic of Holt-Oram syndrome.
What is a haploinsufficient gene?
What is meant by haploinsufficient?
In haplosufficiency (most genes), a single normal allele provides enough function, so A+A− individuals are healthy. In haploinsufficiency, a single normal allele does not provide enough function, so A+A− individuals have a genetic disorder.
How old is the oldest person with Rett syndrome?
Against all the odds, a St Albans woman has become the oldest person in the country living with a rare genetic condition. Jennifer Stone, 73, was diagnosed with Retts Syndrome in early childhood and has lived with the condition with consistent, daily support.
What is the oldest person to live with Rett syndrome?
‘Ann-Charlotte “Lottan” Holmström is most probably the oldest person with Rett Syndrome in Sweden and in all likelihood one of the oldest in the world.
What does NFAT do Immunology?
NFAT in peripheral immune tolerance
NFAT controls the differentiation and function of Treg cells 54, 69– 74 and IL-10-producing regulatory B (Breg) cells 55, 58, 75 that are required for immune homeostasis and crucial to prevent auto-immunity ( Figure 2C,D).
Is NFAT a protein?
The nuclear factor of activated T cells (NFAT) proteins are a family of transcription factors whose activation is controlled by calcineurin, a Ca2+-dependent phosphatase. Originally identified in T cells as inducers of cytokine gene expression, NFAT proteins play varied roles in cells outside of the immune system.
What activates NFAT?
What is NFAT protein?
NFAT proteins are dephosphorylated by activated calcineurin, which leads to their nuclear translocation and the induction of NFAT-mediated gene transcription. During T-cell activation, it is the engagement of the T-cell receptor (TCR) that activates the calcium–calcineurin–NFAT pathway.
What are the symptoms of Holt-Oram syndrome?
Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb , a long thumb that looks like a finger , partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades.