| 词条 | ASXL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| 释义 |
In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene.[2] Model organisms
Model organisms have been used in the study of ASXL1 function. A conditional knockout mouse line, called Asxl1tm1a(EUCOMM)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[10][11][12] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty five tests were carried out on mutant mice and four significant abnormalities were observed.[6] Few homozygous mutant embryos were identified during gestation and those that were alive had craniofacial and eye defects, none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; decreased vertebrae number and increased bone strength was observed in these animals.[6] References1. ^{{cite journal | vauthors = Fisher CL, Berger J, Randazzo F, Brock HW | title = A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11 | journal = Gene | volume = 306 | issue = | pages = 115–26 |date=Mar 2003 | pmid = 12657473 | pmc = | doi =10.1016/S0378-1119(03)00430-X }} 2. ^1 {{cite web | title = Entrez Gene: ASXL1 additional sex combs like 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=171023| accessdate = }} 3. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/x-ray-imaging/ |title=Radiography data for Asxl1 |publisher=Wellcome Trust Sanger Institute}} 4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/salmonella-challenge/ |title=Salmonella infection data for Asxl1 |publisher=Wellcome Trust Sanger Institute}} 5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/citrobacter-challenge/ |title=Citrobacter infection data for Asxl1 |publisher=Wellcome Trust Sanger Institute}} 6. ^1 2 3 {{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages = 925–7 }} 7. ^Mouse Resources Portal, Wellcome Trust Sanger Institute. 8. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Asxl1 |title=International Knockout Mouse Consortium}} 9. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431878 |title=Mouse Genome Informatics}} 10. ^{{Cite journal| last1 = Skarnes |first1 =W. C.| doi = 10.1038/nature10163 | last2 = Rosen | first2 = B.| last3 = West | first3 = A. P.| last4 = Koutsourakis | first4 = M.| last5 = Bushell | first5 = W.| last6 = Iyer | first6 = V.| last7 = Mujica | first7 = A. O.| last8 = Thomas | first8 = M.| last9 = Harrow | first9 = J.| last10 = Cox | first10 = T.| last11 = Jackson | first11 = D.| last12 = Severin | first12 = J.| last13 = Biggs | first13 = P.| last14 = Fu | first14 = J.| last15 = Nefedov | first15 = M.| last16 = De Jong | first16 = P. J.| last17 = Stewart | first17 = A. F.| last18 = Bradley | first18 = A. | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–342 | year = 2011 | pmid = 21677750 | pmc =3572410 }} 11. ^{{cite journal | doi = 10.1038/474262a | title = Mouse library set to be knockout | year = 2011 | author = Dolgin E | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | pmid = 21677718 }} 12. ^{{cite journal | doi = 10.1016/j.cell.2006.12.018 | title = A Mouse for All Reasons | year = 2007 | journal = Cell | volume = 128 | pages = 9–13 | pmid = 17218247 |vauthors=Collins FS, Rossant J, Wurst W| issue = 1 }} 13. ^{{cite journal| vauthors=van der Weyden L, White JK, Adams DJ, Logan DW| title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}} External links
Further reading{{refbegin | 2}}
1 : Genes mutated in mice |
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