VSX1 explained

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.

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Hayashi T, Huang J, Deeb SS . RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina . Genomics . 67 . 2 . 128–39 . 2000 . 10903837 . 10.1006/geno.2000.6248 .
• Deloukas P, Matthews LH, Ashurst J, etal . The DNA sequence and comparative analysis of human chromosome 20 . Nature . 414 . 6866 . 865–71 . 2002 . 11780052 . 10.1038/414865a . 2001Natur.414..865D . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mintz-Hittner HA, Semina EV, Frishman LJ, etal . VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells . Ophthalmology . 111 . 4 . 828–36 . 2004 . 15051220 . 10.1016/j.ophtha.2003.07.006 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Bisceglia L, Ciaschetti M, De Bonis P, etal . 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 . 15623752 . 10.1167/iovs.04-0533 .
• Dorval KM, Bobechko BP, Ahmad KF, Bremner R . Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1 . J. Biol. Chem. . 280 . 11 . 10100–8 . 2005 . 15647262 . 10.1074/jbc.M412676200 . free .
• Valleix S, Nedelec B, Rigaudiere F, etal . 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 . 16384943 . 10.1167/iovs.05-0479 .
• Aldave AJ, Yellore VS, Salem AK, etal . No VSX1 gene mutations associated with keratoconus . Invest. Ophthalmol. Vis. Sci. . 47 . 7 . 2820–2 . 2006 . 16799019 . 10.1167/iovs.05-1530 .
• Barbaro V, Di Iorio E, Ferrari S, etal . 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 . 17122109 . 10.1167/iovs.06-0185 .
• Liskova P, Ebenezer ND, Hysi PG, etal . Molecular analysis of the VSX1 gene in familial keratoconus . Mol. Vis. . 13 . 1887–91 . 2007 . 17960127 . 5466152 .

Notes and References

1. Semina EV, Mintz-Hittner HA, Murray JC . 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 . 10673340 . 10.1006/geno.1999.6093 .
2. Web site: Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish).
3. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L . VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation . . 46 . 1 . 39–45 . January 2005 . 15623752 . 10.1167/iovs.04-0533 .
4. Héon E, Greenberg A, Kopp KK, etal . VSX1: a gene for posterior polymorphous dystrophy and keratoconus . Hum. Mol. Genet. . 11 . 9 . 1029–36 . 2002 . 11978762 . 10.1093/hmg/11.9.1029 .