VAX1

VAX1
Identifiers
Aliases	VAX1, MCOPS11, ventral anterior homeobox 1
External IDs	MGI: 1277163 HomoloGene: 7593 GeneCards: VAX1
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • DNA binding • sequence-specific DNA binding • chromatin DNA binding • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding • RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding Cellular component • nucleus Biological process • axon guidance • skeletal muscle cell differentiation • multicellular organism development • palate development • camera-type eye development • central nervous system development • cell differentiation • brain development • neuron migration • negative regulation of transcription from RNA polymerase II promoter • regulation of transcription, DNA-templated • transcription, DNA-templated • nervous system development • negative regulation of neuroblast proliferation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	11023	22326
Ensembl	ENSG00000148704	ENSMUSG00000006270
UniProt	Q5SQQ9	Q2NKI2
RefSeq (mRNA)	NM_199131 NM_001112704	NM_009501
RefSeq (protein)	NP_001106175.1 NP_954582.1	NP_033527.1
Location (UCSC)	Chr 10: 117.13 – 117.14 Mb	Chr 19: 59.17 – 59.17 Mb
PubMed search	[1]	[2]
Wikidata

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View/Edit Mouse

Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.^[3][4][5]

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.^[6]

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.^[6][7][8]

Clinical significance

Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate.^[9]

Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene.^[10][11] Replication studies have confirmed these associations in different population groups^[12][13]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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. PMID 9636075.
4. 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. doi:10.1073/pnas.96.19.10729. PMC 17951. PMID 10485894.
5. "Entrez Gene: VAX1 ventral anterior homeobox 1".
6. 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. PMID 9636075.
7. 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. PMID 19854269.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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. Part a Clin. Mol. Teratol. 88 (7): 535–7. doi:10.1002/bdra.20689. PMID 20564431.

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.

External links

• VAX1 human gene location in the UCSC Genome Browser.
• VAX1 human gene details in the UCSC Genome Browser.