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FRAS1
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| FRAS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FRAS1, Fraser extracellular matrix complex subunit 1, FRASRS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607830; MGI: 2385368; HomoloGene: 23516; GeneCards: FRAS1; OMA:FRAS1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.[5][6] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.
Metastatic prostate cancer
[edit]A single nucleotide switch (polymorphism) in FRAS1 promoter region is associated with metastatic Prostate cancer. The promoter region is directly related to the NFkB pathway and has been shown to be associated with lethal prostate cancer.[7]
Fras1 related extracellular matrix (FREM1[8]) directly relates to congenital diaphragmatic hernia in developing fetuses. Decreased expression of FREM1 may be linked with disruptions in the growth of diaphragm cells. Both FRAS1 and FREM1 are among the proteins that are primarily interacting during embryonic development. It is shown that a decrease in these two proteins lead to an increase of congenital diaphragmatic hernia in both humans and mice.[9]
Clinical significance
[edit]Mutations in this gene have been observed to cause fraser syndrome.[10]
See also
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000138759 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034687 – 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.
- ^ "Entrez Gene: Fraser syndrome 1".
- ^ McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, et al. (June 2003). "Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein". Nature Genetics. 34 (2): 203–208. doi:10.1038/ng1142. PMID 12766769. S2CID 1018128.
- ^ Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, et al. (July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The Prostate. 81 (10): 683–693. doi:10.1002/pros.24148. PMC 8491321. PMID 33956343.
- ^ Li, Chumei; Slavotinek, Anne (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "FREM1 Autosomal Recessive Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301721, retrieved 2021-11-23
- ^ Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, et al. (July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The Prostate. 81 (10): 683–693. doi:10.1002/pros.24148. PMC 8491321. PMID 33956343.
- ^ "Fraser syndrome 1". February 23, 2010. Retrieved May 17, 2010.
Further reading
[edit]- Short K, Wiradjaja F, Smyth I (July 2007). "Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion". IUBMB Life. 59 (7): 427–435. doi:10.1080/15216540701510581. PMID 17654118. S2CID 6690146.
- Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M (February 2008). "Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1". Journal of Molecular Biology. 375 (5): 1457–1468. doi:10.1016/j.jmb.2007.11.088. hdl:10397/14647. PMID 18155042.
- Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, et al. (July 2010). "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia". PLOS ONE. 5 (7) e11493. Bibcode:2010PLoSO...511493J. doi:10.1371/journal.pone.0011493. PMC 2901336. PMID 20634891.
- Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, et al. (November 2009). "Common variants in the trichohyalin gene are associated with straight hair in Europeans". American Journal of Human Genetics. 85 (5): 750–755. doi:10.1016/j.ajhg.2009.10.009. PMC 2775823. PMID 19896111.
- Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, et al. (June 2003). "Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice". Nature Genetics. 34 (2): 209–214. doi:10.1038/ng1168. hdl:11858/00-001M-0000-0012-F0CE-9. PMID 12766770. S2CID 23226763.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Docherty SJ, Kovas Y, Petrill SA, Plomin R (July 2010). "Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities". BMC Genetics. 11: 61. doi:10.1186/1471-2156-11-61. PMC 2909150. PMID 20602751.
- Gattuso J, Patton MA, Baraitser M (September 1987). "The clinical spectrum of the Fraser syndrome: report of three new cases and review". Journal of Medical Genetics. 24 (9): 549–555. doi:10.1136/jmg.24.9.549. PMC 1050267. PMID 3118036.
- van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, et al. (September 2008). "Molecular study of 33 families with Fraser syndrome new data and mutation review". American Journal of Medical Genetics. Part A. 146A (17): 2252–2257. doi:10.1002/ajmg.a.32440. PMID 18671281. S2CID 44521706.
- Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (April 2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" (PDF). DNA Research. 7 (2): 143–150. doi:10.1093/dnares/7.2.143. PMID 10819331.
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