Tenascin X
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| Location (UCSC) | Chr 6: 32.04 – 32.12 Mb | Chr 17: 34.88 – 34.94 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Tenascin X (TN-X), also known as flexillin or hexabrachion-like protein, is a 450kDa glycoprotein, a member of the tenascin family, that is expressed in connective tissues. In humans it is encoded by the TNXB gene.[5]
The TN-X protein is expressed in many parts of the human body, including the skin, muscles, kidneys, blood vessels, and digestive tract.[6][7]
Deficiencies in the TN-X protein due to mutations or not enough of it being produced (haploinsufficiency) can lead to a rare condition called classical-like Ehlers-Danlos syndrome (EDS). People with EDS may have loose joints and weak tissues because their bodies don't make enough collagen properly.[8]
Structure
TN-X possesses a modular structure composed, from the N- to the C-terminal part by a Tenascin assembly domain (TAD), a series of 18.5 repeats of epidermal growth factor (EGF)-like motif, a high number of Fibronectin type III (FNIII) module, and a fibrinogen (FBG)-like globular domain.[9]
Gene
TNXB (functional gene)
The TNXB gene localizes to the major histocompatibility complex (MHC class III) region on chromosome 6. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively.[10]
TNXA (pseudogene)
The TNXB gene has an associated pseudogene, TNXA.
Both TNXA and TNXB genes are located within the
The presence of the pseudogeneis a consequence of MHC class III locus duplication during evolution. Strong 3' homology between TNXB and TNXA can provoke genetic recombination between the two loci, thus leading to the apparition of TNXA/TNXB chimera[16].
Function
TN-X is constitutively expressed in adult tissues such as
In addition to this architectural function, TN-X also demonstrated counter-adhesive properties, at least for human osteosarcoma cells (MG-63), murine embryonic fibroblasts (MRC-5) as well as human endothelial cells (ECV-304).[22][23]
Clinical significance
Homozygous mutations,
History
Tenascin-X (TNX) protein was discovered during studies of human steroidogenesis and its disorders, particularly in patients with 21-hydroxylase deficiency, rather than during studies of connective tissue disorders.[32] Researchers sequenced a 2.7 kb cDNA clone that showed similarities to tenascin, leading to the identification of the XB gene.[33] This gene was initially called "Gene X" because its nature and function were unknown at the time. Further research revealed that this gene encodes the Tenascin-X protein, which belongs to the family of tenascins.[32]
References
- ^ a b c ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 GRCh38: Ensembl release 89: ENSG00000236236, ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033327 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8530023.
- PMID 25793578.
- PMID 37007968.
- PMID 29734195.
- S2CID 16267174.
- ^ a b
This article incorporates public domain material from "TNXB tenascin XB [ Homo sapiens (human)". Reference Sequence collection. National Center for Biotechnology Information.
- ^ PMID 34394006.
- S2CID 36582994.
- PMID 23241443.
- PMID 37401054.
- ^ This article incorporates public domain material from "TNXA tenascin XA (pseudogene) [ Homo sapiens (human) ]". Reference Sequence collection. National Center for Biotechnology Information.
- ^ PMID 23284009.
- PMID 25793578.
- S2CID 29297624.
- PMID 24821840.
- S2CID 13988411.
- PMID 8783183.
- PMID 10469149.
- PMID 19801846.
- PMID 26075496.
- PMID 27297501.
- S2CID 4440499.
- S2CID 21274161.
- S2CID 42748708.
- S2CID 205001452.
- S2CID 5889106.
- S2CID 6760626.
- ^ PMID 33505400.
- PMID 2475872.
Further reading
- Goepel C (2008). "Differential elastin and tenascin immunolabeling in the uterosacral ligaments in postmenopausal women with and without pelvic organ prolapse". Acta Histochemica. 110 (3): 204–209. PMID 18155129.
- Yuan Y, Nymoen DA, Stavnes HT, Rosnes AK, Bjørang O, Wu C, et al. (November 2009). "Tenascin-X is a novel diagnostic marker of malignant mesothelioma". The American Journal of Surgical Pathology. 33 (11): 1673–1682. PMID 19738457.
- Egging D, van Vlijmen-Willems I, van Tongeren T, Schalkwijk J, Peeters A (2007). "Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition". Connective Tissue Research. 48 (2): 93–98. S2CID 34586536.
- Egging DF, van Vlijmen-Willems I, Choi J, Peeters AC, van Rens D, Veit G, et al. (June 2008). "Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice". Cell and Tissue Research. 332 (3): 523–532. PMID 18335242.
- Kato A, Endo T, Abiko S, Ariga H, Matsumoto K (August 2008). "Induction of truncated form of tenascin-X (XB-S) through dissociation of HDAC1 from SP-1/HDAC1 complex in response to hypoxic conditions". Experimental Cell Research. 314 (14): 2661–2673. PMID 18588874.
- Bristow J, Carey W, Egging D, Schalkwijk J (November 2005). "Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 139C (1): 24–30. from the original on 2022-06-10. Retrieved 2019-07-11.
- Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, et al. (December 2009). McCarthy MI (ed.). "Common genetic variation and the control of HIV-1 in humans". PLOS Genetics. 5 (12): e1000791. PMID 20041166.
- Kamatani Y, Matsuda K, Ohishi T, Ohtsubo S, Yamazaki K, Iida A, et al. (2008). "Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population". Journal of Human Genetics. 53 (1): 64–73. PMID 18058064.
- Valdes AM, Thomson G (February 2009). "Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1". Diabetes, Obesity & Metabolism. 11. 11 (Suppl 1): 46–52. PMID 19143814.
- Yu CY (1998). "Molecular genetics of the human MHC complement gene cluster". Experimental and Clinical Immunogenetics. 15 (4): 213–230. S2CID 25061446.
- Endo T, Ariga H, Matsumoto K (January 2009). "Truncated form of tenascin-X, XB-S, interacts with mitotic motor kinesin Eg5". Molecular and Cellular Biochemistry. 320 (1–2): 53–66. S2CID 23394214.
- Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, et al. (March 2009). Gibson G (ed.). "Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966". PLOS Genetics. 5 (3): e1000409. PMID 19266077.
- Araújo VC, Furuse C, Cury PR, Altemani A, Alves VA, de Araújo NS (January 2008). "Tenascin and fibronectin expression in carcinoma ex pleomorphic adenoma". Applied Immunohistochemistry & Molecular Morphology. 16 (1): 48–53. S2CID 23304572.
- Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, Zusmanovich P, et al. (May 2008). "Many sequence variants affecting diversity of adult human height". Nature Genetics. 40 (5): 609–615. S2CID 3005450.
- Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, et al. (October 2009). Roopenian DC (ed.). "High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions". PLOS Genetics. 5 (10): e1000696. PMID 19851445.
- McKinnon E, Morahan G, Nolan D, James I (February 2009). "Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach". Diabetes, Obesity & Metabolism. 11 (Suppl 1): 92–100. PMID 19143821.
- Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, et al. (November 2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Molecular Psychiatry. 14 (11): 1004–1016. PMID 19204726.
- Vignal C, Bansal AT, Balding DJ, Binks MH, Dickson MC, Montgomery DS, et al. (January 2009). "Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci". Arthritis and Rheumatism. 60 (1): 53–62. PMID 19116923.
- Buysschaert ID, Grulois V, Eloy P, Jorissen M, Rombaux P, Bertrand B, et al. (May 2010). "Genetic evidence for a role of IL33 in nasal polyposis". Allergy. 65 (5): 616–622. S2CID 33878118.
- Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, et al. (March 2009). "Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction". Nature Genetics. 41 (3): 342–347. S2CID 4964308.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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