ALX4: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Homeobox protein aristaless-like 4''' is a [[protein]] that in humans is encoded by the ''ALX4'' [[gene]].<ref name="pmid11017806">{{cite journal | vauthors = Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG | title = Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome | journal = Am J Hum Genet | volume = 67 | issue = 5 | pages = 1327–32 |date=Nov 2000 | pmid = 11017806 | pmc = 1288575 | doi = 10.1016/S0002-9297(07)62963-2 }}</ref><ref name="pmid8644736">{{cite journal | vauthors = Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ | title = Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 | journal = Am J Hum Genet | volume = 58 | issue = 4 | pages = 734–42 |date=Jul 1996 | pmid = 8644736 | pmc = 1914683 | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ALX4 aristaless-like homeobox 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60529| accessdate = }}</ref>
'''Homeobox protein aristaless-like 4''' is a [[protein]] that in humans is encoded by the ''ALX4'' [[gene]].<ref name="pmid11017806">{{cite journal | vauthors = Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG | title = Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome | journal = American Journal of Human Genetics | volume = 67 | issue = 5 | pages = 1327–32 | date = November 2000 | pmid = 11017806 | pmc = 1288575 | doi = 10.1016/S0002-9297(07)62963-2 }}</ref><ref name="pmid8644736">{{cite journal | vauthors = Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ | title = Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 | journal = American Journal of Human Genetics | volume = 58 | issue = 4 | pages = 734–42 | date = April 1996 | pmid = 8644736 | pmc = 1914683 | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ALX4 aristaless-like homeobox 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60529| access-date = }}</ref> Alx4 belongs to the group-1 aristaless-related genes, a majority of which are linked to the development of the [[craniofacial]] and/or [[Appendicular skeleton|appendicular]] skeleton, along with [[PRRX1]], [[SHOX]], [[ALX3]], and [[ALX1|CART1]].<ref name="Meijlink_1999">{{cite journal | vauthors = Meijlink F, Beverdam A, Brouwer A, Oosterveen TC, Berge DT | title = Vertebrate aristaless-related genes | journal = The International Journal of Developmental Biology | volume = 43 | issue = 7 | pages = 651–63 | date = 1999 | pmid = 10668975 | doi = | url = }}</ref> The Alx4 protein acts as a transcriptional activator and is predominantly expressed in the [[mesenchyme]] of the developing embryonic limb buds.<ref name="Takahashi_1998">{{cite journal | vauthors = Takahashi M, Tamura K, Büscher D, Masuya H, Yonei-Tamura S, Matsumoto K, Naitoh-Matsuo M, Takeuchi J, Ogura K, Shiroishi T, Ogura T, Izpisúa Belmonte JC | title = The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development | journal = Development | volume = 125 | issue = 22 | pages = 4417–25 | date = November 1998 | pmid = 9778501 | url = http://dev.biologists.org/content/125/22/4417 }}</ref><ref name="Meijlink_1999" /><ref name="Panman_2004">{{cite journal | vauthors = Panman L, Drenth T, Tewelscher P, Zuniga A, Zeller R | title = Genetic interaction of Gli3 and Alx4 during limb development | journal = The International Journal of Developmental Biology | volume = 49 | issue = 4 | pages = 443–8 | date = 2004-07-01 | pmid = 15968591 | doi = 10.1387/ijdb.051984lp }}</ref> Transcripts of this gene are detectable in the [[lateral plate mesoderm]] just prior to limb induction. Alx4 expression plays a major role in the determination of spatial orientation of the growing limb bud by aiding in the establishment of anteroposterior polarity of the limb.<ref name="Takahashi_1998" /><ref name="Panman_2004" /><ref name="Kuijper_2005">{{cite journal | vauthors = Kuijper S, Feitsma H, Sheth R, Korving J, Reijnen M, Meijlink F | title = Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh | journal = Developmental Biology | volume = 285 | issue = 2 | pages = 533–44 | date = September 2005 | pmid = 16039644 | doi = 10.1016/j.ydbio.2005.06.017 }}</ref> It does this by working in conjunction with [[Gli3]] and dHand to restrict the expression of [[Sonic hedgehog|Sonic Hedgehog]] (SHh) to the posterior mesenchyme, which will eventually give rise to the [[Zone of polarizing activity|Zone of Polarizing Activity]] (ZPA).<ref name="Niswander_2002">{{cite journal | vauthors = Niswander L | title = Interplay between the molecular signals that control vertebrate limb development | journal = The International Journal of Developmental Biology | volume = 46 | issue = 7 | pages = 877–81 | date = 2002 | pmid = 12455624 | doi = | url = }}</ref> This gene has been proven to be [[Allele|allelic]] with mutations and deletions giving rise to a host of craniofacial dismorphologies and several forms of [[polydactyly]] in mammalian development.<ref name="Meijlink_1999" /><ref name="Kayserili_2009">{{cite journal | vauthors = Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA | title = ALX4 dysfunction disrupts craniofacial and epidermal development | journal = Human Molecular Genetics | volume = 18 | issue = 22 | pages = 4357–66 | date = November 2009 | pmid = 19692347 | doi = 10.1093/hmg/ddp391 }}</ref> A mouse-model knockout of this gene, dubbed Strong’s luxoid, was originally created by [[Thomas Forsthoefel|Forstheofel]] in the 1960s and has been extensively studied to understand the partial and complete loss-of-function properties of this gene.<ref name="Meijlink_1999" /><ref name="Takahashi_1998" /><ref name="Kuijper_2005" /><ref name="Niswander_2002" /><ref name="Kayserili_2009" /><ref>{{cite journal | vauthors = Forsthoefel PF | title = The embryological development of the effects of Strong's luxoid gene in the mouse | journal = Journal of Morphology | volume = 113 | issue = 3 | pages = 427–51 | date = November 1963 | pmid = 14079603 | doi = 10.1002/jmor.1051130307 }}</ref>
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==Interactions==
== Interactions ==
ALX4 has been shown to [[Protein-protein interaction|interact]] with [[Lymphoid enhancer-binding factor 1]].<ref name=pmid11696550>{{cite journal |last=Boras |first=Kata |author2=Hamel Paul A |date=Jan 2002 |title=Alx4 binding to LEF-1 regulates N-CAM promoter activity |journal=J. Biol. Chem. |volume=277 |issue=2 |pages=1120–7 |publisher= |location = United States| issn = 0021-9258| pmid = 11696550 |doi = 10.1074/jbc.M109912200 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>


==References==
ALX4 has been shown to [[Protein-protein interaction|interact]] with [[Lymphoid enhancer-binding factor 1]].<ref name=pmid11696550>{{cite journal | vauthors = Boras K, Hamel PA | title = Alx4 binding to LEF-1 regulates N-CAM promoter activity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 2 | pages = 1120–7 | date = January 2002 | pmid = 11696550 | doi = 10.1074/jbc.M109912200 }}</ref>
 
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Qu S, Tucker SC, Zhao Q, deCrombrugghe B, Wisdom R | title = Physical and genetic interactions between Alx4 and Cart1 | journal = Development | volume = 126 | issue = 2 | pages = 359–69 | date = January 1999 | pmid = 9847249 | doi =  }}
| citations =
* {{cite journal | vauthors = Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W | title = The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) | journal = Journal of Medical Genetics | volume = 37 | issue = 12 | pages = 916–20 | date = December 2000 | pmid = 11106354 | pmc = 1734509 | doi = 10.1136/jmg.37.12.916 }}
*{{cite journal | vauthors=Qu S, Tucker SC, Zhao Q |title=Physical and genetic interactions between Alx4 and Cart1. |journal=Development |volume=126 |issue= 2 |pages= 359–69 |year= 1999 |pmid= 9847249 |doi=  |display-authors=etal}}
* {{cite journal | vauthors = Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO | title = Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 17–8 | date = January 2001 | pmid = 11137991 | doi = 10.1038/83703 }}
*{{cite journal | vauthors=Wuyts W, Cleiren E, Homfray T |title=The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). |journal=J. Med. Genet. |volume=37 |issue= 12 |pages= 916–20 |year= 2001 |pmid= 11106354 |doi= 10.1136/jmg.37.12.916| pmc=1734509  |display-authors=etal}}
* {{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | date = April 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 }}
*{{cite journal | vauthors=Mavrogiannis LA, Antonopoulou I, Baxová A |title=Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 17–8 |year= 2001 |pmid= 11137991 |doi= 10.1038/83703 |display-authors=etal}}
* {{cite journal | vauthors = Boras K, Hamel PA | title = Alx4 binding to LEF-1 regulates N-CAM promoter activity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 2 | pages = 1120–7 | date = January 2002 | pmid = 11696550 | doi = 10.1074/jbc.M109912200 }}
*{{cite journal | vauthors=Nagase T, Nakayama M, Nakajima D |title=Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85–95 |year= 2001 |pmid= 11347906 |doi=10.1093/dnares/8.2.85 |display-authors=etal}}
* {{cite journal | vauthors = Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG | title = Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome | journal = European Journal of Human Genetics | volume = 13 | issue = 5 | pages = 528–40 | date = May 2005 | pmid = 15852040 | doi = 10.1038/sj.ejhg.5201366 }}
*{{cite journal | vauthors=Boras K, Hamel PA |title=Alx4 binding to LEF-1 regulates N-CAM promoter activity. |journal=J. Biol. Chem. |volume=277 |issue= 2 |pages= 1120–7 |year= 2002 |pmid= 11696550 |doi= 10.1074/jbc.M109912200 }}
* {{cite journal | vauthors = Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO | title = Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype | journal = European Journal of Human Genetics | volume = 14 | issue = 2 | pages = 151–8 | date = February 2006 | pmid = 16319823 | pmc = 1477589 | doi = 10.1038/sj.ejhg.5201526 }}
*{{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | vauthors=Wakui K, Gregato G, Ballif BC |title=Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in [[Potocki-Shaffer syndrome]]. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 5 |pages= 528–40 |year= 2005 |pmid= 15852040 |doi= 10.1038/sj.ejhg.5201366 |display-authors=etal}}
*{{cite journal | vauthors=Mavrogiannis LA, Taylor IB, Davies SJ |title=Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. |journal=Eur. J. Hum. Genet. |volume=14 |issue= 2 |pages= 151–8 |year= 2006 |pmid= 16319823 |doi= 10.1038/sj.ejhg.5201526 | pmc=1477589 |display-authors=etal}}
}}
{{refend}}
{{refend}}


==External links==
== External links ==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=msx2  GeneReviews/NCBI/NIH/UW entry on Enlarged Parietal Foramina/Cranium Bifidum]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=msx2  GeneReviews/NCBI/NIH/UW entry on Enlarged Parietal Foramina/Cranium Bifidum]
* {{UCSC gene info|ALX4}}
* {{UCSC gene info|ALX4}}
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{{gene-11-stub}}

Latest revision as of 11:16, 18 August 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Homeobox protein aristaless-like 4 is a protein that in humans is encoded by the ALX4 gene.[1][2][3] Alx4 belongs to the group-1 aristaless-related genes, a majority of which are linked to the development of the craniofacial and/or appendicular skeleton, along with PRRX1, SHOX, ALX3, and CART1.[4] The Alx4 protein acts as a transcriptional activator and is predominantly expressed in the mesenchyme of the developing embryonic limb buds.[5][4][6] Transcripts of this gene are detectable in the lateral plate mesoderm just prior to limb induction. Alx4 expression plays a major role in the determination of spatial orientation of the growing limb bud by aiding in the establishment of anteroposterior polarity of the limb.[5][6][7] It does this by working in conjunction with Gli3 and dHand to restrict the expression of Sonic Hedgehog (SHh) to the posterior mesenchyme, which will eventually give rise to the Zone of Polarizing Activity (ZPA).[8] This gene has been proven to be allelic with mutations and deletions giving rise to a host of craniofacial dismorphologies and several forms of polydactyly in mammalian development.[4][9] A mouse-model knockout of this gene, dubbed Strong’s luxoid, was originally created by Forstheofel in the 1960s and has been extensively studied to understand the partial and complete loss-of-function properties of this gene.[4][5][7][8][9][10]

Interactions

ALX4 has been shown to interact with Lymphoid enhancer-binding factor 1.[11]

References

  1. ↑ Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (November 2000). "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome". American Journal of Human Genetics. 67 (5): 1327–32. doi:10.1016/S0002-9297(07)62963-2. PMC 1288575. PMID 11017806.
  2. ↑ Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ (April 1996). "Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11". American Journal of Human Genetics. 58 (4): 734–42. PMC 1914683. PMID 8644736.
  3. ↑ "Entrez Gene: ALX4 aristaless-like homeobox 4".
  4. ↑ 5.0 5.1 5.2 Takahashi M, Tamura K, Büscher D, Masuya H, Yonei-Tamura S, Matsumoto K, Naitoh-Matsuo M, Takeuchi J, Ogura K, Shiroishi T, Ogura T, Izpisúa Belmonte JC (November 1998). "The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development". Development. 125 (22): 4417–25. PMID 9778501.
  5. ↑ 6.0 6.1 Panman L, Drenth T, Tewelscher P, Zuniga A, Zeller R (2004-07-01). "Genetic interaction of Gli3 and Alx4 during limb development". The International Journal of Developmental Biology. 49 (4): 443–8. doi:10.1387/ijdb.051984lp. PMID 15968591.
  6. ↑ 7.0 7.1 Kuijper S, Feitsma H, Sheth R, Korving J, Reijnen M, Meijlink F (September 2005). "Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh". Developmental Biology. 285 (2): 533–44. doi:10.1016/j.ydbio.2005.06.017. PMID 16039644.
  7. ↑ 8.0 8.1 Niswander L (2002). "Interplay between the molecular signals that control vertebrate limb development". The International Journal of Developmental Biology. 46 (7): 877–81. PMID 12455624.
  8. ↑ 9.0 9.1 Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA (November 2009). "ALX4 dysfunction disrupts craniofacial and epidermal development". Human Molecular Genetics. 18 (22): 4357–66. doi:10.1093/hmg/ddp391. PMID 19692347.
  9. ↑ Forsthoefel PF (November 1963). "The embryological development of the effects of Strong's luxoid gene in the mouse". Journal of Morphology. 113 (3): 427–51. doi:10.1002/jmor.1051130307. PMID 14079603.
  10. ↑ Boras K, Hamel PA (January 2002). "Alx4 binding to LEF-1 regulates N-CAM promoter activity". The Journal of Biological Chemistry. 277 (2): 1120–7. doi:10.1074/jbc.M109912200. PMID 11696550.

Further reading

External links


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