“POT1”的意思、由来-开放百科全书

Function

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex known as shelterin, that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described.^[3]

The absence of POT1 in mouse embryonic fibroblasts and chicken cells leads to a detrimental DNA damage response on telomeres resulting in telomere dysfunction-induced foci (TIFs). POT1 is required for telomere protection because it allows for telomere inhibition of DNA damage response factors. The protein also serves a role in the regulation of telomerase activity on telomeres. In vitro experiments utilizing human POT1 have shown that reduction in POT1 levels result in the elongation of telomeres.^[4]

Interactions

Pathology

References

1. ^{{cite journal | vauthors = Baumann P, Cech TR | title = Pot1, the putative telomere end-binding protein in fission yeast and humans | journal = Science | volume = 292 | issue = 5519 | pages = 1171–5 | date = May 2001 | pmid = 11349150 | pmc = | doi = 10.1126/science.1060036 }}
2. ^{{cite journal | vauthors = Baumann P, Podell E, Cech TR | title = Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing | journal = Molecular and Cellular Biology | volume = 22 | issue = 22 | pages = 8079–87 | date = November 2002 | pmid = 12391173 | pmc = 134737 | doi = 10.1128/MCB.22.22.8079-8087.2002 }}
3. ^¹{{cite web | title = Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25913| access-date = }}
4. ^{{cite journal|last1=Bauman|first1=Peter|last2=Carolyn|first2=Price | name-list-format = vanc |title=Pot1 and telomere maintenance|journal=FEBS Letters|date=2010|volume=584|issue=17|pages=3779–3784|doi= 10.1016/j.febslet.2010.05.024 |pmid=20493859|pmc=2942089}}
5. ^{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | display-authors = 6 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
6. ^¹{{cite journal | vauthors = Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T | title = POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex | journal = Genes & Development | volume = 18 | issue = 14 | pages = 1649–54 | date = July 2004 | pmid = 15231715 | pmc = 478187 | doi = 10.1101/gad.1215404 }}
7. ^¹{{cite journal | vauthors = Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z | title = PTOP interacts with POT1 and regulates its localization to telomeres | journal = Nature Cell Biology | volume = 6 | issue = 7 | pages = 673–80 | date = July 2004 | pmid = 15181449 | doi = 10.1038/ncb1142 }}
8. ^{{cite journal | vauthors = Loayza D, De Lange T | title = POT1 as a terminal transducer of TRF1 telomere length control | journal = Nature | volume = 423 | issue = 6943 | pages = 1013–8 | date = June 2003 | pmid = 12768206 | doi = 10.1038/nature01688 }}
9. ^{{cite journal | vauthors = Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, Blasco MA, Campo E, López-Otín C | display-authors = 6 | title = POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia | journal = Nature Genetics | volume = 45 | issue = 5 | pages = 526–30 | date = May 2013 | pmid = 23502782 | doi = 10.1038/ng.2584 }}
10. ^{{cite journal | vauthors = Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ | display-authors = 6 | title = POT1 loss-of-function variants predispose to familial melanoma | journal = Nature Genetics | volume = 46 | issue = 5 | pages = 478–481 | date = May 2014 | pmid = 24686849 | pmc = 4266105 | doi = 10.1038/ng.2947 }}
11. ^{{cite journal | vauthors = Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML | display-authors = 6 | title = Germline mutations in shelterin complex genes are associated with familial glioma | journal = Journal of the National Cancer Institute | volume = 107 | issue = 1 | pages = 384 | date = January 2015 | pmid = 25482530 | pmc = 4296199 | doi = 10.1093/jnci/dju384 }}

Function

Interactions

Pathology

References

Further reading