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VAX1

VAX1
Identifiers
AliasesVAX1, MCOPS11, ventral anterior homeobox 1
External IDsOMIM: 604294; MGI: 1277163; HomoloGene: 7593; GeneCards: VAX1; OMA:VAX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

11023

22326

Ensembl

ENSG00000148704

ENSMUSG00000006270

UniProt

Q5SQQ9

Q2NKI2

RefSeq (mRNA)

NM_199131
NM_001112704

NM_009501

RefSeq (protein)

NP_001106175
NP_954582

NP_033527

Location (UCSC)Chr 10: 117.13 – 117.14 MbChr 19: 59.15 – 59.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.[5][6][7]

Function

This gene appears to influence the development in humans of the forebrain. It is also present in mice and xenopus frogs, which suggests a long evolutionary history, and in those organisms its expression is confined to the forebrain, optic and olfactory areas.[8]

VAX1 gene is a transcription factor that has a homeodomain located in the 100-159 amino acid position and an Ala–rich region located in 216-253 amino acid position of the gene. Expression studies in mice show that it is expressed in the palate, coloboma in the visual system, and the basal telencephalon, optic stalk, and visual eye fields where it is expressed along with the Shh and Bmp4 genes.[8][9][10]

Clinical significance

Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate.[11]

Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene.[12][13] Replication studies have confirmed these associations in different population groups[14][15]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148704 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006270 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hallonet M, Hollemann T, Wehr R, Jenkins NA, Copeland NG, Pieler T, Gruss P (Aug 1998). "Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain". Development. 125 (14): 2599–610. doi:10.1242/dev.125.14.2599. hdl:11858/00-001M-0000-0012-FCE1-A. PMID 9636075.
  6. ^ Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S (Oct 1999). "A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis". Proc Natl Acad Sci U S A. 96 (19): 10729–34. Bibcode:1999PNAS...9610729B. doi:10.1073/pnas.96.19.10729. PMC 17951. PMID 10485894.
  7. ^ "Entrez Gene: VAX1 ventral anterior homeobox 1".
  8. ^ a b Hallonet M, Hollemann T, Wehr R, Jenkins NA, Copeland NG, Pieler T, Gruss P (July 1998). "Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain". Development. 125 (14): 2599–610. doi:10.1242/dev.125.14.2599. hdl:11858/00-001M-0000-0012-FCE1-A. PMID 9636075.
  9. ^ Zhao L, Saitsu H, Sun X, Shiota K, Ishibashi M (2010). "Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain". Mech. Dev. 127 (1–2): 62–72. doi:10.1016/j.mod.2009.10.006. hdl:2433/120557. PMID 19854269. S2CID 14409164.
  10. ^ Bertuzzi S, Hindges R, Mui SH, O'Leary DD, Lemke G (December 1999). "The homeodomain protein Vax1 is required for axon guidance and major tract formation in the developing forebrain". Genes Dev. 13 (23): 3092–105. doi:10.1101/gad.13.23.3092. PMC 317177. PMID 10601035.
  11. ^ Hallonet M, Hollemann T, Pieler T, Gruss P (December 1999). "Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system". Genes Dev. 13 (23): 3106–14. doi:10.1101/gad.13.23.3106. PMC 317183. PMID 10601036.
  12. ^ Mangold E, Ludwig KU, Birnbaum S, et al. (January 2010). "Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate". Nat. Genet. 42 (1): 24–6. doi:10.1038/ng.506. PMID 20023658.
  13. ^ Beaty TH, Murray JC, Marazita ML, et al. (June 2010). "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nat. Genet. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469.
  14. ^ Nikopensius T, Birnbaum S, Ludwig KU, et al. (June 2010). "Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients". Eur. J. Oral Sci. 118 (3): 317–9. doi:10.1111/j.1600-0722.2010.00741.x. PMID 20572868.
  15. ^ Rojas-Martinez A, Reutter H, Chacon-Camacho O, et al. (July 2010). "Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25". Birth Defects Res. A. 88 (7): 535–7. doi:10.1002/bdra.20689. PMID 20564431.

Further reading


Quelle: https://en.wikipedia.org/wiki/VAX1