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Volumn 56, Issue 1, 2011, Pages 5-7

Genotype-phenotype associations and human eye color

Author keywords

eye color; HERC2; OCA2; SNP

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

EID: 79251622232     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.126     Document Type: Review
Times cited : (77)

References (25)
  • 1
    • 79251646574 scopus 로고
    • On the inheritance of eye colour in man
    • Hurst, C. C. On the inheritance of eye colour in man. Molecular and General Genet. MGG 1, 393-394 (1908).
    • (1908) Molecular and General Genet. MGG , vol.1 , pp. 393-394
    • Hurst, C.C.1
  • 3
    • 3242733252 scopus 로고    scopus 로고
    • Eye colour: Portals into pigmentation genes and ancestry
    • Sturm, R. & Frudakis, T. Eye Colour: portals into pigmentation genes and ancestry. trends Genet. 20, 327-332 (2004).
    • (2004) Trends Genet. , vol.20 , pp. 327-332
    • Sturm, R.1    Frudakis, T.2
  • 4
    • 60549085065 scopus 로고    scopus 로고
    • Interactions between HERC2 OCA2 and MC1R may influence human pigmentation phenotype
    • Branicki, W., Brudnik, U. & WojasPelc, A. Interactions between HERC2, OCA2, and MC1R may influence human pigmentation phenotype. Annals of Hum Genet 73, 160-170 (2009).
    • (2009) Annals of Hum. Genet. , vol.73 , pp. 160-170
    • Branicki, W.1    Brudnik, U.2    WojasPelc, A.3
  • 6
    • 33846617194 scopus 로고    scopus 로고
    • A threesingle-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    • Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z., Le, L., James, M. R. et al. A threesingle- nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 80, 241-252 (2007).
    • (2007) Am. J. Hum. Genet. , vol.80 , pp. 241-252
    • Duffy, D.L.1    Montgomery, G.W.2    Chen, W.3    Zhao, Z.4    Le, L.5    James, M.R.6
  • 8
    • 11144355855 scopus 로고    scopus 로고
    • A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q
    • Zhu, G., Evans, D., Duffy, D., Montgomery, G., Medland, S., Gillespie, N. A. et al. A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. Twin Res 7, 197-210 (2004).
    • (2004) Twin Res. , vol.7 , pp. 197-210
    • Zhu, G.1    Evans, D.2    Duffy, D.3    Montgomery, G.4    Medland, S.5    Gillespie, N.A.6
  • 9
    • 39549097952 scopus 로고    scopus 로고
    • Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
    • Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. et al. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123, 177-187 (2008).
    • (2008) Hum. Genet. , vol.123 , pp. 177-187
    • Eiberg, H.1    Troelsen, J.2    Nielsen, M.3    Mikkelsen, A.4    Mengel-From, J.5    Kjaer, K.6
  • 10
    • 40749148586 scopus 로고    scopus 로고
    • Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    • Kayser, M., Liu, F., Janssens, A. C., Rivadeneira, F., Lao, O., van Duijn, K. et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 82, 411-423 (2008).
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 411-423
    • Kayser, M.1    Liu, F.2    Janssens, A.C.3    Rivadeneira, F.4    Lao, O.5    Van Duijn, K.6
  • 11
    • 40749158014 scopus 로고    scopus 로고
    • A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    • Sturm, R., Duffy, D., Zhao, Z., Leite, F., Stark, M., Hayward, N. et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye Color. Am J Hum Genet 82, 424-431 (2008).
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 424-431
    • Sturm, R.1    Duffy, D.2    Zhao, Z.3    Leite, F.4    Stark, M.5    Hayward, N.6
  • 12
    • 23944453840 scopus 로고    scopus 로고
    • The HERC proteins: Functional and evolutionary insights
    • Garcia-Gonzalo, F. R. & Rosa, J. L. The HERC proteins: functional and evolutionary insights. Cell Mol Life Sci 62, 1826-1838 (2005).
    • (2005) Cell Mol. Life Sci. , vol.62 , pp. 1826-1838
    • Garcia-Gonzalo, F.R.1    Rosa, J.L.2
  • 13
    • 0035088810 scopus 로고    scopus 로고
    • The mouse p pink-eyed dilution and human P genes ocular albinism type 2 OCA2 and melanosomal pH
    • Brilliant, M. The mouse p (pink-eyed dilution) and human P genes, ocular albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res 14, 86-93 (2001).
    • (2001) Pigment Cell Res. , vol.14 , pp. 86-93
    • Brilliant, M.1
  • 14
    • 0027509280 scopus 로고
    • A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
    • Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S., Strunk, K. M., Spritz, R. A. et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361, 72-76 (1993).
    • (1993) Nature , vol.361 , pp. 72-76
    • Rinchik, E.M.1    Bultman, S.J.2    Horsthemke, B.3    Lee, S.4    Strunk, K.M.5    Spritz, R.A.6
  • 15
    • 0035904403 scopus 로고    scopus 로고
    • Human pigmentation genes: Identification structure and consequences of polymorphic variation
    • Sturm, R. A., Teasdale, R. D. & Box, N. F. Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 277, 49-62 (2001).
    • (2001) Gene , vol.277 , pp. 49-62
    • Sturm, R.A.1    Teasdale, R.D.2    Box, N.F.3
  • 17
    • 0026686945 scopus 로고
    • The mouse pinkeyed dilution gene: association with human prader-willi and angelman syndromes
    • Gardner, J., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M., King, R. et al. The mouse pinkeyed dilution gene: association with human Prader-Willi and Angelman Syndromes. Science 257, 1121 (1992).
    • (1992) Science , vol.257 , pp. 1121
    • Gardner, J.1    Nakatsu, Y.2    Gondo, Y.3    Lee, S.4    Lyon, M.5    King, R.6
  • 18
    • 0025292716 scopus 로고
    • Angelman syndrome: Three molecular classes identified with chromosome 15q11q13-specific DNA markers
    • Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Glatt, K., Graham, Jr J. M., Kaplan, L. et al. Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 47, 149-155 (1990).
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 149-155
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3    Glatt, K.4    Graham Jr., J.M.5    Kaplan, L.6
  • 19
    • 0032913013 scopus 로고    scopus 로고
    • Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
    • Oetting, W. S. & King, R. A. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13, 99-115 (1999).
    • (1999) Hum. Mutat. , vol.13 , pp. 99-115
    • Oetting, W.S.1    King, R.A.2
  • 20
    • 77953194221 scopus 로고    scopus 로고
    • Digital quantification of human eye color highlights genetic association of three new loci
    • Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D. et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet 6, e1000934 (2010).
    • (2010) PLoS Genet. , vol.6
    • Liu, F.1    Wollstein, A.2    Hysi, P.G.3    Ankra-Badu, G.A.4    Spector, T.D.5    Park, D.6
  • 21
    • 34248584399 scopus 로고    scopus 로고
    • Genotype versus phenotype: Human pigmentation
    • Tully, G. Genotype versus phenotype: human pigmentation. Forensic Sci Int: Genet. 1, 105-110 (2007).
    • (2007) Forensic. Sci. Int. Genet. , vol.1 , pp. 105-110
    • Tully, G.1
  • 25
    • 23644448602 scopus 로고    scopus 로고
    • Allele variations in OCA2 gene pink-eyed-dilution locus are associated with genetic susceptibility to melanoma
    • Jannot, A- S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archibaud, A. et al. Allele Variations in OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. European J Hum Genet 13, 913-920 (2005).
    • (2005) European J. Hum. Genet. , vol.13 , pp. 913-920
    • Jannot, A.-S.1    Meziani, R.2    Bertrand, G.3    Gerard, B.4    Descamps, V.5    Archibaud, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.