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- Table of Contents
Facts about T-box transcription factor TBX5.
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Human | |
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Gene Name: | TBX5 |
Uniprot: | Q99593 |
Entrez: | 6910 |
Belongs to: |
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No superfamily |
HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5; TBX5
Mass (kDA):
57.711 kDA
Human | |
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Location: | 12q24.21 |
Sequence: | 12; NC_000012.12 (114353911..114408708, complement) |
Nucleus. Cytoplasm. Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.
TBX5 is an RNA repressor for transcription that regulates transcription through direct interactions with DNA. The protein also plays an important role in morphological and nucleosome reconstruction. This article will explore the most effective uses of this marker for biological research. Read on to learn more. While we're on subject of TBX5 Don't worry, this information is applicable to all scientists around the world.
HDAC4/5 is able to prevent acetylation from impacting the function of TBX5. The complex TBX5K339R regulates transcription by regulating promoter recruitment and the remodeling of chromatin. Reporter tests were conducted using the acetyl deficient mutant TBX5–K339R that was not acetylated with HDAC4/5. Tests using the promoter-reporter assay revealed that the mutant TBX5-K339R retains significant transcriptional activity on the MYH6 promoter.
TBX5 is also implicated in the development of the heart. It is involved in the development of the cardiac conduction system and also in the maintenance of mature cardiomyocyte function. Therefore, a complete understanding of TBX5 is crucial to studying the human cardiac morphology and function. The disease-causing mutations in human TBX5 can cause a variety of heart defects including hypoplastic left heart, atrial septal defect and atrial tachycardia.
TBX5 has been found to be a repressor for various genes. For example, it promotes the expression of SERCA2a but it also inhibits Fgf8 and Fgf10 in myocytes from the mouse ventricular. This is a vital role for the heart. Its dysfunction is linked to congenital heart disease. A number of studies also suggest that TBX5 is capable of modulating post-translational processes. Acetylation can also boost TBX5 activity. Other studies also confirm the significance of sumoylation.
Furthermore to that, the TBX5 gene has 9 exons and spans approximately 47 kb. The TBX5 gene is an important repressor for MYH6. It is also associated with HDAC4, which reduces MYH6 transcription by 50 percent. A variety of other forms of TBX5 have different expression and activity. These isoforms can be further studied to learn more about their roles in the development of humans and their health.
The TBX5 protein belongs to the T-box family. It is a 518-amino-acid protein with two nuclear location sequences (NLSs) that are located inside and outside of the T-box domain. Both NLSs are believed to work in concert in regulating transcription through DNA binding. The gene also has the transactivation domain, which is composed of amino acids 339-349.
In order to study the role of TBX5 in AF, we used neonatal rat heart myocytes immortalized with the temperature-sensitive SV40 T antigen. Incredibly, the immortalized heart myocytes did NOT contain any detectable levels of TBX5. We determined the transcription of downstream genes using quantitative PCR. We also studied the expression of TBX5 in human embryonic heart tissue cells. These cells contain a mutated gene that encodes a protein that is not found in the cell line.
Although TBX5 is expressed in a variety of tissues, the one that is most studied is the developing forelimb. The gene first appears in the mesoderm of the lateral plate of mouse embryonic development and becomes robustly expressed in the forelimb bud at E9.5. TBX5 expression is evident in the developing limb as early as E13.5. This is a sign of the importance of TBX5 for cardiac development.
Variations in the TBX5 gene can cause many different conditions. Holt-Oram syndrome is a rare genetic disorder that causes heart and skeletal malformations. Mutations of T-box transcription factor 5 cause minor skeletal changes and paroxysmal atrial fibrillation. Before seeking medical treatment, it is important to detect any changes in genes.
Holt-Oram syndrome is a genetic disorder caused by mutations in the TBX5 genes. It is characterized by congenital heart defects and preaxial radial lower limb defects. In zebrafish embryos with TBX5 deficiency, abnormal cell growth can be observed over the head, tail, and dormant trunk. Dysmorphogenesis is also observed in morphants tbx5.
This gene is part of the T-box transcription factors family, and regulates transcription through direct interactions with DNA. Numerous groups have employed chromatin immunoprecipitation as well as sequencing (ChIP-seq) to identify specific targets for TBX5 regulation. One of these studies focused on HL-1, which is a cardiac cell line. ChIP-seq analysis identified 56k binding sites to TBX5.
Additionally, knockouts or deletions of the Tbx5 gene caused the inhibition of cell growth throughout zebrafish embryos. Knockdown of the tbx5 gene results in the overexpression of pro and anti-apoptotic genes. Tbx5 mutations could cause dysmorphogenesis as well as an abnormal apoptosis.
Tbx20 lowers the transcription rate of many other genes involved with ion flux and calcium. This suppression of genes results in reduced transient peaks in calcium levels, resulting in shortening of cells. This means that TBX20 may play a crucial role in the regulation of adult cardiac ion channels. However, these findings have not yet been thoroughly analyzed.
Numerous genes controlled by TBX5 were also found. These genes include BAD, CDK2, P27, and the cell-cycle-related protein BCL2. In addition, cardiomyogenesis plays a vital role in the various stages of development of the heart, including chamber formation, ballooning, and looping. Additionally, anticardiac myosin antibodies were used to determine the expression of myosin.
TBX5 is part of the T-box family, which encodes a 518-amino acid protein. It is composed of two nuclear localization sequences, NLS1 and NLS2, which work cooperatively. The TBX5 transactivation domain located between amino acids 339 and 379 is also contained in the protein. While its exact function is not yet known but it is believed to be involved in the cell cycle-related processes.
TBX5 has multiple functions in the heart, including the regulation of the growth and differentiation of cardiomyocytes. It also stops unintentional gene expression by acting as a transcriptional regulator. While its role in cardiac development and reprogramming are not yet fully understood It has been proven to be crucial to the development of the heart and its function. However, the complete TBX5 interactome is not yet defined. However, these interactions could affect the regulation of transcription of the target gene which may cause cardiovascular disease.
The structure of TBX5 indicates that it interacts with CHD4 (the nucleosome-remodeling complex) through the N-terminal portion of its protein. The N-terminal portion of the protein contains two chromodomains that are responsible for binding DNA. These proteins are thought to regulate nucleosome remodeling through altering the structure of nucleosomes.
In addition, the TBX5 NuRD complex is essential for cardiac development and development. Understanding its functions in the development of the cardiac system will help researchers better understand how TBX5 influences changes in morphology. The mechanism by which nucleosomes repair or remodel nucleosomes will allow us better know the role of TBX5 during cardiac development. This gene complex is involved in a number of developmental processes that include the patterning of the cardiac conduction system and the maintenance of mature cardiomyocyte function.
Thyroid hormones play a key role in the growth of the cardiomyocyte. Thyroid hormones were found to boost the terminal differentiation of neonatal cardiomyocytes the laboratory. Thyroid hormones also hinder the proliferation and expression of SERCA2a and cyclin D1a which, in turn, reduces the ability of cardiomyocytes differentiate. Thyroid hormones also regulate autophagy of cardiomyocytes, a process that is crucial for mature heart function.
Researchers have discovered that the absence of GSNOR reduces the number of cardiomyocytes in iPSCs. Moreover, the absence of GSNOR enhanced the development of cardiomyocytes in iPSCs. This study could provide important insights into the treatment of cells for patients suffering from cardiac disease. The researchers acknowledge the support of the Sao Paulo Research Foundation for the study.
This gene is a member the transcription factors family T-box and is a crucial regulator of cardiac development. This gene is affected in Holt Oram syndrome, an illness that manifests as defects in the cardiac septa, conduction system and the anterior forelimb. It is not clear which factors control the expression of TBX5.
PMID: 8988164 by Li Q.Y., et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
PMID: 8988165 by Basson C.T., et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt- Oram syndrome.