Biology:VSX1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[1][2]
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green cone opsin gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus.[3][4] Two transcript variants encoding different isoforms have been found for this gene.[2]
References
- ↑ "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics 63 (2): 289–93. Apr 2000. doi:10.1006/geno.1999.6093. PMID 10673340.
- ↑ 2.0 2.1 "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813.
- ↑ "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. January 2005. doi:10.1167/iovs.04-0533. PMID 15623752.
- ↑ "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. 2002. doi:10.1093/hmg/11.9.1029. PMID 11978762.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina". Genomics 67 (2): 128–39. 2000. doi:10.1006/geno.2000.6248. PMID 10903837.
- "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. 2002. doi:10.1038/414865a. PMID 11780052. Bibcode: 2001Natur.414..865D.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells". Ophthalmology 111 (4): 828–36. 2004. doi:10.1016/j.ophtha.2003.07.006. PMID 15051220.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. 2005. doi:10.1167/iovs.04-0533. PMID 15623752.
- "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1". J. Biol. Chem. 280 (11): 10100–8. 2005. doi:10.1074/jbc.M412676200. PMID 15647262.
- "H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family". Invest. Ophthalmol. Vis. Sci. 47 (1): 48–54. 2006. doi:10.1167/iovs.05-0479. PMID 16384943.
- "No VSX1 gene mutations associated with keratoconus". Invest. Ophthalmol. Vis. Sci. 47 (7): 2820–2. 2006. doi:10.1167/iovs.05-1530. PMID 16799019.
- "Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing". Invest. Ophthalmol. Vis. Sci. 47 (12): 5243–50. 2007. doi:10.1167/iovs.06-0185. PMID 17122109.
- "Molecular analysis of the VSX1 gene in familial keratoconus". Mol. Vis. 13: 1887–91. 2007. PMID 17960127.
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