메뉴 건너뛰기




Volumn 26, Issue 4, 2013, Pages 487-498

Genetic modulation of the iris transillumination defect: A systems genetics analysis using the expanded family of BXD glaucoma strains

Author keywords

Epigenetics; Iris transillumination defect; Mathematical modeling; QTL analysis; Systems genetics

Indexed keywords

ANIMAL EXPERIMENT; ARTICLE; EXON; GENE MAPPING; GLAUCOMA; GPNMB GENE; IRIS; IRIS DISEASE; MOUSE; MYO5A GENE; NONHUMAN; OCA2 GENE; PHENOTYPE; PIGMENTATION; PRKCZ GENE; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSILLUMINATION DEFECT; TYRP1 GENE; ZBTB20 GENE;

EID: 84879781589     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12106     Document Type: Article
Times cited : (18)

References (50)
  • 2
    • 52449131591 scopus 로고    scopus 로고
    • Iris phenotypes and pigment dispersion caused by genes influencing pigmentation
    • Anderson, M., Hawes, N., Trantow, C., Chang, B., and John, S. (2008). Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res. 21, 565-578.
    • (2008) Pigment Cell Melanoma Res. , vol.21 , pp. 565-578
    • Anderson, M.1    Hawes, N.2    Trantow, C.3    Chang, B.4    John, S.5
  • 4
    • 0042697470 scopus 로고    scopus 로고
    • The color loci of mice -a genetic century
    • Bennett, D.C., and Lamoreux, M.L. (2003). The color loci of mice -a genetic century. Pigment Cell Res. 16, 333-344.
    • (2003) Pigment Cell Res. , vol.16 , pp. 333-344
    • Bennett, D.C.1    Lamoreux, M.L.2
  • 6
    • 35148821824 scopus 로고    scopus 로고
    • Analysis of ocular hypopigmentation in Rab38cht/cht mice
    • Brooks, B.P., Larson, D.M., Chan, C.C. et al. (2007). Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest. Ophthalmol. Vis. Sci. 48, 3905-3913.
    • (2007) Invest. Ophthalmol. Vis. Sci. , vol.48 , pp. 3905-3913
    • Brooks, B.P.1    Larson, D.M.2    Chan, C.C.3
  • 8
    • 27444431883 scopus 로고    scopus 로고
    • Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein
    • Costin, G.E., Valencia, J.C., Wakamatsu, K. et al. (2005). Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein. Biochem. J. 391, 249-259.
    • (2005) Biochem. J. , vol.391 , pp. 249-259
    • Costin, G.E.1    Valencia, J.C.2    Wakamatsu, K.3
  • 9
    • 0004231192 scopus 로고
    • Hagerstown: Harper & Row Publishers, Inc.
    • Fine, B.S., and Yanoff, M. (1979). In Ocular Histology, (Hagerstown: Harper & Row Publishers, Inc.).
    • (1979) Ocular Histology
    • Fine, B.S.1    Yanoff, M.2
  • 12
    • 0019464946 scopus 로고
    • Estimating genetic correlations from inbred strains
    • Hegmann, J.P., and Possidente, B. (1981). Estimating genetic correlations from inbred strains. Behav. Genet. 11, 103-114.
    • (1981) Behav. Genet. , vol.11 , pp. 103-114
    • Hegmann, J.P.1    Possidente, B.2
  • 13
    • 34548738992 scopus 로고    scopus 로고
    • Changes of melanosome morphology associated with the differentiation of epidermal melanocytes in slaty mice
    • Hirobe, T., and Abe, H. (2007). Changes of melanosome morphology associated with the differentiation of epidermal melanocytes in slaty mice. Anat. Rec. (Hoboken) 290, 981-993.
    • (2007) Anat. Rec. (Hoboken) , vol.290 , pp. 981-993
    • Hirobe, T.1    Abe, H.2
  • 14
    • 33748317831 scopus 로고    scopus 로고
    • Melanin structure and the potential functions of uveal melanosomes
    • Hong, L., Simon, J.D., and Sarna, T. (2006). Melanin structure and the potential functions of uveal melanosomes. Pigment Cell Res. 19, 465-466.
    • (2006) Pigment Cell Res. , vol.19 , pp. 465-466
    • Hong, L.1    Simon, J.D.2    Sarna, T.3
  • 16
    • 21244463148 scopus 로고    scopus 로고
    • Photobiology of ocular melanocytes and melanoma
    • Hu, D.N. (2005). Photobiology of ocular melanocytes and melanoma. Photochem. Photobiol. 81, 506-509.
    • (2005) Photochem. Photobiol. , vol.81 , pp. 506-509
    • Hu, D.N.1
  • 17
    • 0034112212 scopus 로고    scopus 로고
    • Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism
    • Iwata, F., Reed, G.F., Caruso, R.C., Kuehl, E.M., Gahl, W.A., and Kaiser-Kupfer, M.I. (2000). Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology 107, 783-789.
    • (2000) Ophthalmology , vol.107 , pp. 783-789
    • Iwata, F.1    Reed, G.F.2    Caruso, R.C.3    Kuehl, E.M.4    Gahl, W.A.5    Kaiser-Kupfer, M.I.6
  • 20
    • 0033610797 scopus 로고    scopus 로고
    • Tyrosinase stabilization by Tyrp1 (the brown locus protein)
    • Kobayashi, T., Imokawa, G., Bennett, D.C., and Hearing, V.J. (1998). Tyrosinase stabilization by Tyrp1 (the brown locus protein). J. Biol. Chem. 273, 31801-31805.
    • (1998) J. Biol. Chem. , vol.273 , pp. 31801-31805
    • Kobayashi, T.1    Imokawa, G.2    Bennett, D.C.3    Hearing, V.J.4
  • 21
    • 33750598813 scopus 로고    scopus 로고
    • Uveal melanocytes do not respond to or express receptors for alpha-melanocyte-stimulating hormone
    • Li, L., Hu, D.N., Zhao, H., McCormick, S.A., Nordlund, J.J., and Boissy, R.E. (2006). Uveal melanocytes do not respond to or express receptors for alpha-melanocyte-stimulating hormone. Invest. Ophthalmol. Vis. Sci. 47, 4507-4512.
    • (2006) Invest. Ophthalmol. Vis. Sci. , vol.47 , pp. 4507-4512
    • Li, L.1    Hu, D.N.2    Zhao, H.3    McCormick, S.A.4    Nordlund, J.J.5    Boissy, R.E.6
  • 22
    • 27544501965 scopus 로고    scopus 로고
    • Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration
    • Libby, R.T., Anderson, M.G., Pang, I.-H. et al. (2005). Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. Vis. Neurosci. 22, 637-648.
    • (2005) Vis. Neurosci. , vol.22 , pp. 637-648
    • Libby, R.T.1    Anderson, M.G.2    Pang, I.-H.3
  • 23
    • 33847188116 scopus 로고    scopus 로고
    • Melanocyte biology and skin pigmentation
    • Lin, J.Y., and Fisher, D.E. (2007). Melanocyte biology and skin pigmentation. Nature 445, 843-850.
    • (2007) Nature , vol.445 , pp. 843-850
    • Lin, J.Y.1    Fisher, D.E.2
  • 24
    • 21244431610 scopus 로고    scopus 로고
    • Comparisons of the structural and chemical properties of melanosomes isolated from retinal pigment epithelium, iris and choroid of newborn and mature bovine eyes
    • Liu, Y., Hong, L., Wakamatsu, K., Ito, S., Adhyaru, B.B., Cheng, C.Y., Bowers, C.R., and Simon, J.D. (2005). Comparisons of the structural and chemical properties of melanosomes isolated from retinal pigment epithelium, iris and choroid of newborn and mature bovine eyes. Photochem. Photobiol. 81, 510-516.
    • (2005) Photochem. Photobiol. , vol.81 , pp. 510-516
    • Liu, Y.1    Hong, L.2    Wakamatsu, K.3    Ito, S.4    Adhyaru, B.B.5    Cheng, C.Y.6    Bowers, C.R.7    Simon, J.D.8
  • 26
    • 79959201520 scopus 로고    scopus 로고
    • Genetic dissection of the Gpnmb network in the eye
    • Lu, H., Wang, X., Pullen, M. et al. (2011b). Genetic dissection of the Gpnmb network in the eye. Invest. Ophthalmol. Vis. Sci. 52, 4132-4142.
    • (2011) Invest. Ophthalmol. Vis. Sci. , vol.52 , pp. 4132-4142
    • Lu, H.1    Wang, X.2    Pullen, M.3
  • 27
    • 0036976942 scopus 로고    scopus 로고
    • DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma
    • Lynch, S., Yanagi, G., Delbbono, E., and Wiggs, J.L. (2002). DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. Mol. Vis. 8, 127-129.
    • (2002) Mol. Vis. , vol.8 , pp. 127-129
    • Lynch, S.1    Yanagi, G.2    Delbbono, E.3    Wiggs, J.L.4
  • 29
    • 0013882116 scopus 로고
    • Genetic variations in the fine structure and ontogeny of mouse melanin granules
    • Moyer, F.H. (1966). Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am. Zool. 6, 43-66.
    • (1966) Am. Zool. , vol.6 , pp. 43-66
    • Moyer, F.H.1
  • 30
    • 0037279626 scopus 로고    scopus 로고
    • One hundred years of mouse genetics: an intellectual history. I. The classical period
    • Paigen, K. (2003). One hundred years of mouse genetics: an intellectual history. I. The classical period. Genetics 163, 1-7.
    • (2003) Genetics , vol.163 , pp. 1-7
    • Paigen, K.1
  • 33
    • 33847016103 scopus 로고    scopus 로고
    • Lysophosphatidylcholine mediates melanocyte dendricity through PKCzeta activation
    • Scott, G.A., Arioka, M., and Jacobs, S.E. (2007). Lysophosphatidylcholine mediates melanocyte dendricity through PKCzeta activation. J. Invest. Dermatol. 127, 668-675.
    • (2007) J. Invest. Dermatol. , vol.127 , pp. 668-675
    • Scott, G.A.1    Arioka, M.2    Jacobs, S.E.3
  • 35
    • 33846275348 scopus 로고    scopus 로고
    • Correlation of capsular pseudoexfoliation material and iridocorneal angle pigment with the severity of pseudoexfoliation glaucoma
    • Shuba, L., Nicolela, M.T., and Rafuse, P.E. (2007). Correlation of capsular pseudoexfoliation material and iridocorneal angle pigment with the severity of pseudoexfoliation glaucoma. J. Glaucoma 16, 94-97.
    • (2007) J. Glaucoma , vol.16 , pp. 94-97
    • Shuba, L.1    Nicolela, M.T.2    Rafuse, P.E.3
  • 37
    • 0012872115 scopus 로고    scopus 로고
    • Neurotoxicity due to o-quinones: neuromelanin formation and possible mechanisms for o-quinone detoxification
    • Solano, F., Hearing, V.J., and Garcia-Borron, J.C. (2000). Neurotoxicity due to o-quinones: neuromelanin formation and possible mechanisms for o-quinone detoxification. Neurotox. Res. 1, 153-169.
    • (2000) Neurotox. Res. , vol.1 , pp. 153-169
    • Solano, F.1    Hearing, V.J.2    Garcia-Borron, J.C.3
  • 38
    • 1642633879 scopus 로고    scopus 로고
    • Pigment dispersion syndrome and pigmentary glaucoma
    • Sowka, J. (2004). Pigment dispersion syndrome and pigmentary glaucoma. Optometry 75, 115-122.
    • (2004) Optometry , vol.75 , pp. 115-122
    • Sowka, J.1
  • 39
    • 0035904403 scopus 로고    scopus 로고
    • Human pigmentation genes: identification, structure and consequences of polymorphic variation
    • Sturm, R.A., Teasdale, R.D., and Box, N.F. (2001). Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 277, 49-62.
    • (2001) Gene , vol.277 , pp. 49-62
    • Sturm, R.A.1    Teasdale, R.D.2    Box, N.F.3
  • 41
    • 0020625610 scopus 로고
    • Glycoproteins as differentiation markers in human malignant melanoma and melanocytes
    • Tai, T., Eisinger, M., Ogata, S., and Lloyd, K.O. (1983). Glycoproteins as differentiation markers in human malignant melanoma and melanocytes. Cancer Res. 43, 2773-2779.
    • (1983) Cancer Res. , vol.43 , pp. 2773-2779
    • Tai, T.1    Eisinger, M.2    Ogata, S.3    Lloyd, K.O.4
  • 43
    • 77957348282 scopus 로고    scopus 로고
    • Elevated oxidative membrane damage associated with genetic modifiers of lyst-mutant phenotypes
    • Trantow, C., Hedberg-Buenz, A., Iwashita, S., Moore, S., and Anderson, M. (2010). Elevated oxidative membrane damage associated with genetic modifiers of lyst-mutant phenotypes. PLoS Genet. 6, e1001008.
    • (2010) PLoS Genet. , vol.6
    • Trantow, C.1    Hedberg-Buenz, A.2    Iwashita, S.3    Moore, S.4    Anderson, M.5
  • 45
    • 34248584399 scopus 로고    scopus 로고
    • Genotype versus phenotype: human pigmentation
    • Tully, G. (2007). Genotype versus phenotype: human pigmentation. Forensic Sci. Int. Genet. 1, 105-110.
    • (2007) Forensic Sci. Int. Genet. , vol.1 , pp. 105-110
    • Tully, G.1
  • 46
    • 33846125559 scopus 로고    scopus 로고
    • The differing embryonic origins of retinal and uveal (iris / ciliary body and choroid) melanosomes are mirrored by their phospholipid composition
    • Ward, W.C., and Simon, J.D. (2007). The differing embryonic origins of retinal and uveal (iris / ciliary body and choroid) melanosomes are mirrored by their phospholipid composition. Pigment Cell Res. 20, 61-69.
    • (2007) Pigment Cell Res. , vol.20 , pp. 61-69
    • Ward, W.C.1    Simon, J.D.2
  • 47
    • 0035233644 scopus 로고    scopus 로고
    • The genetic structure of recombinant inbred mice: high-resolution consensus maps for complex trait analysis
    • research00461-research004618
    • Williams, R.W., Gu, J., Qi, S., and Lu, L. (2001). The genetic structure of recombinant inbred mice: high-resolution consensus maps for complex trait analysis. Genome Biol. 2, research0046.1-research0046.18.
    • (2001) Genome Biol. , vol.2
    • Williams, R.W.1    Gu, J.2    Qi, S.3    Lu, L.4
  • 49
    • 0346949039 scopus 로고    scopus 로고
    • Expressed sequence tag analysis of adult human iris for the NEI Bank Project: steroid-response factors and similarities with retinal pigment epithelium
    • Wistow, G., Bernstein, S.L., Ray, S., Wyatt, M.K., Behal, A., Touchman, J.W., Bouffard, G., Smith, D., and Peterson, K. (2002). Expressed sequence tag analysis of adult human iris for the NEI Bank Project: steroid-response factors and similarities with retinal pigment epithelium. Mol. Vis. 8, 185-195.
    • (2002) Mol. Vis. , vol.8 , pp. 185-195
    • Wistow, G.1    Bernstein, S.L.2    Ray, S.3    Wyatt, M.K.4    Behal, A.5    Touchman, J.W.6    Bouffard, G.7    Smith, D.8    Peterson, K.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.