TC element gene transcriptions

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Editor-In-Chief: Henry A. Hoff

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Baby bunny is at Floyd Lamb Park. Credit: Renee Grayson.{{free media}}

"Transforming growth factor beta (TGFβ) is implicated in the regulation of smooth muscle cell (SMC) differentiation. [A] novel TGFβ control element (TCE) [occurs] in the promoters of SMC differentiation marker genes including α SM actin and SM22α."[1]

The "promoters of multiple other SMC differentiation marker genes including SM22α and SM-MHC were also found to contain similar TCE regions [11]."[1]

The "α SM actin CArG element (CArG A) was required in combination with the TCE to coordinately regulate TGFβ-induced α SM actin expression in cultured cells [11]."[1]

Consensus sequences

The consensus sequence for the TCE in mouse and rat is 5'-GAGTGGGGCG-3' (-117) within the SM22α promoter which extends from -450 to +65 and includes two CArG transcription factors upstream of the TCE.[1]

In mouse and rat SM22α promoters there are 14 nts between the nearest upstream CArG and the TCE, specifically 5'-AGCCTGTGTGGAGT-3'.[1]

"The sequence of the TCE in the human c-myc promoter is [5'-GCGTGGGGGA-3']."[2]

The "TGF-β inhibitory element (TIE [5'-GAGTGGTGA-3']) [is] in the rat transin/stromelysin promoter(12)."[2]

"Robbins et al. (18) have reported that expression of pRB in mouse fibroblasts suppresses transcription of c-fos and have identified an element, termed the retinoblastoma control element (RCE), in the c-fos promoter necessary for this suppression. More recently, sequences homologous to the RCE have been identified in the TGF-β1, -β2, and -β3 promoters by Kim et al. (19)."[2]

"Kim et al. (19) also reported that sequences similar to the RCE are present in the human c-myc promoter".[2]

Human genes

Gene ID: 7040 is TGFB1 transforming growth factor beta 1. "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease."[3]

Gene ID: 7042 is TGFB2 transforming growth factor beta 2. "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing."[4]

  1. NP_001129071.1 transforming growth factor beta-2 proprotein isoform 1 precursor. "Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 2."[4]
  2. NP_003229.1 transforming growth factor beta-2 proprotein isoform 2. "Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter than isoform 1."[4]
  3. NR_138148.1 RNA Sequence. "Transcript Variant: This variant (3) lacks an internal exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)."[4]
  4. NR_138149.1 RNA Sequence. "Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)."[4]

Gene ID: 7043 is TGFB3 transforming growth factor beta 3. "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1."[5]

  1. NP_003230.1 transforming growth factor beta-3 proprotein isoform 1 preproprotein. "Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1)."[5]
  2. NP_001316868.1 transforming growth factor beta-3 proprotein isoform 1 preproprotein. "Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1)."[5]
  3. NP_001316867.1 transforming growth factor beta-3 proprotein isoform 2 precursor. "Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in an early stop codon and a novel 3' UTR compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1."[5]

Gene ID: 7044 is LEFTY2 left-right determination factor 2 aka TGFB4. "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing."[6]

  1. NP_001165896.1 left-right determination factor 2 isoform 2 precursor. "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) lacks a portion of the mature peptide compared to isoform 1, but may undergo proteolytic processing similar to isoform 1."[6]
  2. NP_003231.2 left-right determination factor 2 isoform 1 preproprotein. "Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)."[6]

Acknowledgements

The content on this page was first contributed by: Henry A. Hoff.

Initial content for this page in some instances came from Wikiversity.

See also

References

  1. 1.0 1.1 1.2 1.3 1.4 Paul J. Adam, Christopher P. Regan, Martina B. Hautmann, Gary K. Owens (August 22, 2000). "Positive and Negative Acting Krüppel-like Transcription Factors Bind a Transforming Growth Factor Beta Control Element Required for Expression of the Smooth Muscle Cell Differentiation Marker SM22α In Vivo" (PDF). Journal of Biological Chemistry. 275 (48): 37798–37806. doi:10.1074/jbc.M006323200. Retrieved 5 December 2018.
  2. 2.0 2.1 2.2 2.3 Jennifer A. Pietenpol, Karl Munger, Peter M. Howley, Roland W. Stein and Harold L. Moses (November 15, 1991). "Factor-binding element in the human c-myc promoter involved in transcriptional regulation by transforming growth factor β1 and by the retinoblastoma gene product" (PDF). Proceedings of the National Academy of Sciences USA. 88 (22): 10227–10231. doi:10.1073/pnas.88.22.10227. Retrieved 5 December 2018.
  3. RefSeq (August 2016). "TGFB1 transforming growth factor beta 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 30 January 2020.
  4. 4.0 4.1 4.2 4.3 4.4 RefSeq (August 2016). "TGFB2 transforming growth factor beta 2 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 30 January 2020.
  5. 5.0 5.1 5.2 5.3 RefSeq (August 2016). "TGFB3 transforming growth factor beta 3 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 30 January 2020.
  6. 6.0 6.1 6.2 RefSeq (August 2016). "LEFTY2 left-right determination factor 2 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 30 January 2020.

External links


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