VSX1 (full name - English. Visual system homeobox 1 homolog, CHX10-like (zebrafish) ) - a gene that encodes a homeodomain is a protein that belongs to the subfamily paired -like homeodomain proteins associated with the development of the eyes and the cranial facial area. The name of the family indicates the similarity of the homeodomain with the paired protein homeodomain in the Drosophila organism. The structure of the human VSX1 protein is 55% similar to that of the zebrafish fish , 35% with the mouse protein Chx10.
| VSX1 | |
|---|---|
| Legend | |
| Characters | VSX1 ; PPCD |
| Entrez gene | 30813 |
| Hgnc | 12723 |
| OMIM | 605020 |
| Refseq | NM_014588 |
| UniProt | Q9NZR4 |
| Other data | |
| Locus | 20th hr. , 20p11.21 |
VSX1 is expressed by cells of the retina and corneal keratocytes ; in the latter, gene expression is practically not detected in the quiescent state, but is clearly manifested when switching to the phenotype of fibroblasts and myofibroblasts . [one]
Role in medicine
According to some studies, VSX1 gene mutations are associated with posterior polymorphic corneal dystrophy . Some rare cases of keratoconus have also been associated with gene mutations, [2] [3] these data were not confirmed by subsequent studies. [4] [5] In 2009, a new mutation associated with keratoconus was reported, this message is also pending replication in other populations. [6] In one small study of 18 families with keratoconus (Gajecka et al., 2009), there was no association with both VSX1 and the other candidate gene , SOD1 , which may indicate at least the heterogeneity of keratoconus, or complete lack of communication VSX1 with this disease. [7]
Notes
- ↑ Barbaro V., Di Iorio E., Ferrari S., et al. Expression of VSX1 in human corneal keratocytes during differentiation into response to wound healing. (English) // Investigative Ophthalmology & Visual Science : journal. - 2007. - Vol. 47 , no. 12 - P. 5243—5250 . - DOI : 10.1167 / iovs.06-0185 . - PMID 17122109 .
- ↑ 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 of a patient patient by keratoconus: detection of a novel mutation (eng.) // Invest. Ophthalmol. Vis. Sci. : journal. - 2005. - January ( vol. 46 , no. 1 ). P. 39–45 . - DOI : 10.1167 / iovs.04-0533 . - PMID 15623752 . Archived April 15, 2013.
- ↑ Héon E., Greenberg A., Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. (English) // Human Molecular Genetics : journal. - Oxford University Press , 2002. - Vol. 11 , no. 9 - P. 1029-1036 . - DOI : 10.1093 / hmg / 11.9.1029 . - PMID 11978762 .
- ↑ Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H., Tang GY, Piconell Y., Rabinowitz YS No VSX1 gene mutations associated with keratoconus (Neopr.) // Invest. Ophthalmol. Vis. Sci. . - 2006. - July ( vol. 47 , No. 7 ). - S. 2820-2822 . - DOI : 10.1167 / iovs.05-1530 . - PMID 16799019 . (inaccessible link)
- ↑ Tang YG, Picornell Y., Su X., Li X., Yang H., Rabinowitz YS Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus (English) // Cornea : journal. - 2008. - February ( vol. 27 , no. 2 ). - P. 189-192 . - DOI : 10.1097 / ICO.0b013e31815a50e7 . - PMID 18216574 .
- ↑ Paliwal P., Singh A., Tandon R., Titiyal JS, Sharma A. A novel VSX1 mutation identified in individual with keratoconus in India (Eng.) // Mol. Vis. : journal. - 2009. - Vol. 15 - P. 2475-2479 . - PMID 19956409 .
- ↑ Gajecka M., Radhakrishna U., Winters D., Nath SK, Rydzanicz M., Ratnamala U., Ewing K., Molinari A., Pitarque JA, Lee K., Leal SM, Bejjani BA to a 5.6-Mb interval on 13q32 (English) // Invest. Ophthalmol. Vis. Sci. : journal. - 2009. - April ( vol. 50 , no. 4 ). - P. 1531-1539 . - DOI : 10.1167 / iovs.08-2173 . - PMID 19011015 . (inaccessible link)