STAG3 (gene): Difference between revisions
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{{Infobox_gene}} | {{Infobox_gene}} | ||
'''Stromal antigen 3''' is a [[protein]] that in humans is encoded by the STAG3 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Stromal antigen 3 | url = https://www.ncbi.nlm.nih.gov/gene/10734 }}</ref> | '''Stromal antigen 3''' is a [[protein]] that in humans is encoded by the STAG3 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Stromal antigen 3 | url = https://www.ncbi.nlm.nih.gov/gene/10734 }}</ref> STAG3 protein is a component of a [[cohesin]] complex that regulates the separation of [[sister chromatids]] specifically during [[meiosis]]. STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human [[oocyte]]s.<ref name="pmid20634189">{{cite journal |vauthors=Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, Cabero L, Pessarrodona A, Barbero JL, Garcia Caldés M |title=Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes |journal=Hum. Reprod. |volume=25 |issue=9 |pages=2316–27 |year=2010 |pmid=20634189 |doi=10.1093/humrep/deq180 |url=}}</ref> | ||
A homozygous 1-bp deletion inducing a [[frameshift mutation]] in STAG3 causes [[premature ovarian failure]].<ref name="CaburetArboleda2014">{{cite journal | vauthors = Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E | title = Mutant cohesin in premature ovarian failure | journal = The New England Journal of Medicine | volume = 370 | issue = 10 | pages = 943–9 | date = March 2014 | pmid = 24597867 | doi = 10.1056/NEJMoa1309635 }}</ref> | A homozygous 1-bp deletion inducing a [[frameshift mutation]] in STAG3 causes [[premature ovarian failure]].<ref name="CaburetArboleda2014">{{cite journal | vauthors = Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E | title = Mutant cohesin in premature ovarian failure | journal = The New England Journal of Medicine | volume = 370 | issue = 10 | pages = 943–9 | date = March 2014 | pmid = 24597867 | doi = 10.1056/NEJMoa1309635 | pmc=4068824}}</ref> | ||
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* {{cite journal | vauthors = Quaye L, Dafou D, Ramus SJ, Song H, Gentry-Maharaj A, Maharaj AG, Notaridou M, Hogdall E, Kjaer SK, Christensen L, Hogdall C, Easton DF, Jacobs I, Menon U, Pharoah PD, Gayther SA | title = Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival | journal = Human Molecular Genetics | volume = 18 | issue = 10 | pages = 1869–78 | date = May 2009 | pmid = 19270026 | pmc = | doi = 10.1093/hmg/ddp107 }} | * {{cite journal | vauthors = Quaye L, Dafou D, Ramus SJ, Song H, Gentry-Maharaj A, Maharaj AG, Notaridou M, Hogdall E, Kjaer SK, Christensen L, Hogdall C, Easton DF, Jacobs I, Menon U, Pharoah PD, Gayther SA | title = Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival | journal = Human Molecular Genetics | volume = 18 | issue = 10 | pages = 1869–78 | date = May 2009 | pmid = 19270026 | pmc = | doi = 10.1093/hmg/ddp107 }} | ||
* {{cite journal | vauthors = Pezzi N, Prieto I, Kremer L, Pérez Jurado LA, Valero C, Del Mazo J, Martínez-A C, Barbero JL | title = STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion | journal = FASEB Journal | volume = 14 | issue = 3 | pages = 581–92 | date = March 2000 | pmid = 10698974 }} | * {{cite journal | vauthors = Pezzi N, Prieto I, Kremer L, Pérez Jurado LA, Valero C, Del Mazo J, Martínez-A C, Barbero JL | title = STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion | journal = FASEB Journal | volume = 14 | issue = 3 | pages = 581–92 | date = March 2000 | pmid = 10698974 | doi=10.1096/fasebj.14.3.581}} | ||
* {{cite journal | vauthors = Prieto I, Suja JA, Pezzi N, Kremer L, Martínez-A C, Rufas JS, Barbero JL | title = Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I | journal = Nature Cell Biology | volume = 3 | issue = 8 | pages = 761–6 | date = August 2001 | pmid = 11483963 | pmc = | doi = 10.1038/35087082 }} | * {{cite journal | vauthors = Prieto I, Suja JA, Pezzi N, Kremer L, Martínez-A C, Rufas JS, Barbero JL | title = Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I | journal = Nature Cell Biology | volume = 3 | issue = 8 | pages = 761–6 | date = August 2001 | pmid = 11483963 | pmc = | doi = 10.1038/35087082 }} | ||
* {{cite journal | vauthors = Notaridou M, Quaye L, Dafou D, Jones C, Song H, Høgdall E, Kjaer SK, Christensen L, Høgdall C, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, Mędrek K, Lubiński J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA, Ramus SJ | title = Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer | journal = International Journal of Cancer | volume = 128 | issue = 9 | pages = 2063–74 | date = May 2011 | pmid = 20635389 | pmc = 3098608 | doi = 10.1002/ijc.25554 }} | * {{cite journal | vauthors = Notaridou M, Quaye L, Dafou D, Jones C, Song H, Høgdall E, Kjaer SK, Christensen L, Høgdall C, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, Mędrek K, Lubiński J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA, Ramus SJ | title = Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer | journal = International Journal of Cancer | volume = 128 | issue = 9 | pages = 2063–74 | date = May 2011 | pmid = 20635389 | pmc = 3098608 | doi = 10.1002/ijc.25554 }} | ||
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Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene.[1] STAG3 protein is a component of a cohesin complex that regulates the separation of sister chromatids specifically during meiosis. STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes.[2]
A homozygous 1-bp deletion inducing a frameshift mutation in STAG3 causes premature ovarian failure.[3]
References
- ↑ "Entrez Gene: Stromal antigen 3".
- ↑ Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, Cabero L, Pessarrodona A, Barbero JL, Garcia Caldés M (2010). "Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes". Hum. Reprod. 25 (9): 2316–27. doi:10.1093/humrep/deq180. PMID 20634189.
- ↑ Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E (March 2014). "Mutant cohesin in premature ovarian failure". The New England Journal of Medicine. 370 (10): 943–9. doi:10.1056/NEJMoa1309635. PMC 4068824. PMID 24597867.
Further reading
- Quaye L, Dafou D, Ramus SJ, Song H, Gentry-Maharaj A, Maharaj AG, Notaridou M, Hogdall E, Kjaer SK, Christensen L, Hogdall C, Easton DF, Jacobs I, Menon U, Pharoah PD, Gayther SA (May 2009). "Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival". Human Molecular Genetics. 18 (10): 1869–78. doi:10.1093/hmg/ddp107. PMID 19270026.
- Pezzi N, Prieto I, Kremer L, Pérez Jurado LA, Valero C, Del Mazo J, Martínez-A C, Barbero JL (March 2000). "STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion". FASEB Journal. 14 (3): 581–92. doi:10.1096/fasebj.14.3.581. PMID 10698974.
- Prieto I, Suja JA, Pezzi N, Kremer L, Martínez-A C, Rufas JS, Barbero JL (August 2001). "Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I". Nature Cell Biology. 3 (8): 761–6. doi:10.1038/35087082. PMID 11483963.
- Notaridou M, Quaye L, Dafou D, Jones C, Song H, Høgdall E, Kjaer SK, Christensen L, Høgdall C, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, Mędrek K, Lubiński J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA, Ramus SJ (May 2011). "Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer". International Journal of Cancer. 128 (9): 2063–74. doi:10.1002/ijc.25554. PMC 3098608. PMID 20635389.
- Prieto I, Pezzi N, Buesa JM, Kremer L, Barthelemy I, Carreiro C, Roncal F, Martinez A, Gomez L, Fernandez R, Martinez-A C, Barbero JL (June 2002). "STAG2 and Rad21 mammalian mitotic cohesins are implicated in meiosis". EMBO Reports. 3 (6): 543–50. doi:10.1093/embo-reports/kvf108. PMC 1084142. PMID 12034751.
- Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C, Hieter P (March 2008). "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National Academy of Sciences of the United States of America. 105 (9): 3443–8. doi:10.1073/pnas.0712384105. PMC 2265152. PMID 18299561.
- Maeshima K, Yoshida K, Shirahige K (September 2008). "[Function of cohesin in transcription]". Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme. 53 (11): 1337–44. PMID 18788457.
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