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词条 NIPA1
释义

  1. Model organisms

  2. References

  3. Further reading

{{Infobox_gene}}Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene.[1][2]{{PBB_Summary
| section_title =
| summary_text = This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[3] This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.[4][5]
}}

Model organisms

Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called Nipa1tm1a(KOMP)Wtsi[10][11] 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 — at the Wellcome Trust Sanger Institute.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on mutant mice but no significant abnormalities were observed.[8]

References

1. ^{{cite journal |vauthors=Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK | title = NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6) | journal = Am J Hum Genet | volume = 73 | issue = 4 | pages = 967–71 |date=Sep 2003 | pmid = 14508710 | pmc = 1180617 | doi = 10.1086/378817 }}
2. ^{{cite web | title = Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=123606| accessdate = }}
3. ^{{cite journal |vauthors=Goytain A, Hines RM, El-Husseini A, Quamme GA |title=NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. |journal=J. Biol. Chem. |volume=282 |issue= 11 |pages= 8060–8 |year= 2007 |pmid= 17166836 |doi= 10.1074/jbc.M610314200 }}
4. ^{{cite journal |vauthors=Reed JA, Wilkinson PA, Patel H, etal |title=A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. |journal=Neurogenetics |volume=6 |issue= 2 |pages= 79–84 |year= 2005 |pmid= 15711826 |doi= 10.1007/s10048-004-0209-9 }}
5. ^{{cite journal |vauthors=Rainier S, Chai JH, Tokarz D, etal |title=NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 967–71 |year= 2003 |pmid= 14508710 |doi=10.1086/378817 | pmc=1180617}}
6. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBMV/salmonella-challenge/ |title=Salmonella infection data for Nipa1 |publisher=Wellcome Trust Sanger Institute}}
7. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBMV/citrobacter-challenge/ |title=Citrobacter infection data for Nipa1 |publisher=Wellcome Trust Sanger Institute}}
8. ^1 2 {{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| issue = S248 }}
9. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Nipa1 |title=International Knockout Mouse Consortium}}
11. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363744 |title=Mouse Genome Informatics}}
12. ^{{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 }}
13. ^{{cite journal |author=Dolgin E |title=Mouse library set to be knockout |journal=Nature |volume=474 |issue=7351 |pages=262–3 |date=June 2011 |pmid=21677718 |doi=10.1038/474262a }}
14. ^{{cite journal |vauthors=Collins FS, Rossant J, Wurst W |title=A mouse for all reasons |journal=Cell |volume=128 |issue=1 |pages=9–13 |date=January 2007 |pmid=17218247 |doi=10.1016/j.cell.2006.12.018 }}
15. ^{{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}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Bittel DC, Kibiryeva N, Butler MG |title=Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. |journal=Pediatrics |volume=118 |issue= 4 |pages= e1276–83 |year= 2006 |pmid= 16982806 |doi= 10.1542/peds.2006-0424 }}
  • {{cite journal |vauthors=Liu T, Qian WJ, Gritsenko MA, etal |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 | pmc=1850943 }}
  • {{cite journal |vauthors=Munhoz RP, Kawarai T, Teive HA, etal |title=Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). |journal=Mov. Disord. |volume=21 |issue= 2 |pages= 279–81 |year= 2006 |pmid= 16267846 |doi= 10.1002/mds.20775 }}
  • {{cite journal |vauthors=Chen S, Song C, Guo H, etal |title=Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. |journal=Hum. Mutat. |volume=25 |issue= 2 |pages= 135–41 |year= 2006 |pmid= 15643603 |doi= 10.1002/humu.20126 }}
  • {{cite journal |vauthors=Chai JH, Locke DP, Greally JM, etal |title=Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 898–925 |year= 2003 |pmid= 14508708 |doi=10.1086/378816 | pmc=1180611 }}
  • {{cite journal |vauthors=Toyoda N, Nagai S, Terashima Y, etal |title=Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins. |journal=Genome Res. |volume=13 |issue= 7 |pages= 1728–36 |year= 2003 |pmid= 12805275 |doi= 10.1101/gr.709603 | pmc=403746 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Fink JK, Jones SM, Sharp GB, etal |title=Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. |journal=Neurology |volume=46 |issue= 3 |pages= 835–6 |year= 1996 |pmid= 8618696 |doi= 10.1212/wnl.46.3.835}}
  • {{cite journal |vauthors=Fink JK, Wu CT, Jones SM, etal |title=Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 188–92 |year= 1995 |pmid= 7825577 |doi= | pmc=1801321 }}
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