호모 사피엔스 종의 단백질 코드 유전자
시각계 호메오박스 1은 VSX1 [5] [6] 단백질 이다.
이 유전자에 의해 코드된 단백질 은 쌍상 호메오도메인을 포함하고 적색/녹색 시각 색소 유전자 클러스터의 궤적 제어 영역의 핵심에 결합합니다. 암호화된 단백질은 발달 초기에 원뿔 옵신 유전자의 발현을 조절할 수 있다. 이 유전자의 돌연변이는 후다형 각막디스트로피 (PPCD)와 [7] [8] 각피증 을 일으킬 수 있다.이 [6]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000100987 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000033080 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics . 63 (2): 289–93. doi :10.1006/geno.1999.6093 . PMID 10673340 . ^ a b "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)" .^ 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 (January 2005). "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. doi :10.1167/iovs.04-0533 PMID 15623752 . ^ Héon E, Greenberg A, Kopp KK, et al. (2002). "VSX1: a gene for posterior polymorphous dystrophy and keratoconus" . Hum. Mol. Genet . 11 (9): 1029–36. doi :10.1093/hmg/11.9.1029 PMID 11978762 . 추가 정보 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 . Hayashi T, Huang J, Deeb SS (2000). "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina". Genomics . 67 (2): 128–39. doi :10.1006/geno.2000.6248 . PMID 10903837 . Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20" . Nature . 414 (6866): 865–71. doi :10.1038/414865a PMID 11780052 . 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 . Mintz-Hittner HA, Semina EV, Frishman LJ, et al. (2004). "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells". Ophthalmology . 111 (4): 828–36. doi :10.1016/j.ophtha.2003.07.006 . PMID 15051220 . 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 . Bisceglia L, Ciaschetti M, De Bonis P, et al. (2005). "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. doi :10.1167/iovs.04-0533 PMID 15623752 . Dorval KM, Bobechko BP, Ahmad KF, Bremner R (2005). "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1" . J. Biol. Chem . 280 (11): 10100–8. doi :10.1074/jbc.M412676200 PMID 15647262 . Valleix S, Nedelec B, Rigaudiere F, et al. (2006). "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. doi :10.1167/iovs.05-0479 PMID 16384943 . Aldave AJ, Yellore VS, Salem AK, et al. (2006). "No VSX1 gene mutations associated with keratoconus" . Invest. Ophthalmol. Vis. Sci . 47 (7): 2820–2. doi :10.1167/iovs.05-1530 PMID 16799019 . Barbaro V, Di Iorio E, Ferrari S, et al. (2007). "Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing" . Invest. Ophthalmol. Vis. Sci . 47 (12): 5243–50. doi :10.1167/iovs.06-0185 PMID 17122109 . Liskova P, Ebenezer ND, Hysi PG, et al. (2007). "Molecular analysis of the VSX1 gene in familial keratoconus" . Mol. Vis . 13 : 1887–91. PMC 5466152 PMID 17960127 .
