메뉴 건너뛰기




Volumn 133, Issue 7, 2013, Pages 1834-1840

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; PROTEIN SLC24A5; UNCLASSIFIED DRUG;

EID: 84879418343     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.49     Document Type: Article
Times cited : (99)

References (35)
  • 1
    • 0042697470 scopus 로고    scopus 로고
    • The color loci of mice - A genetic century
    • DOI 10.1034/j.1600-0749.2003.00067.x
    • Bennett DC, Lamoreux ML (2003) The color loci of mice-a genetic century. Pigment Cell Res 16:333-44 (Pubitemid 36950565)
    • (2003) Pigment Cell Research , vol.16 , Issue.4 , pp. 333-344
    • Bennett, D.C.1    Lamoreux, M.L.2
  • 2
    • 84861730626 scopus 로고    scopus 로고
    • BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles
    • Bultema JJ, Ambrosio AL, Burek CL et al. (2012) BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles. J Biol Chem 287:19550-63
    • (2012) J Biol Chem , vol.287 , pp. 19550-19563
    • Bultema, J.J.1    Ambrosio, A.L.2    Burek, C.L.3
  • 3
    • 41949113247 scopus 로고    scopus 로고
    • SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis
    • Ginger RS, Askew SE, Ogborne RM et al. (2008) SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. J Biol Chem 283:5486-95
    • (2008) J Biol Chem , vol.283 , pp. 5486-5495
    • Ginger, R.S.1    Askew, S.E.2    Ogborne, R.M.3
  • 5
    • 62649158351 scopus 로고    scopus 로고
    • Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism
    • Gronskov K, Ek J, Sand A et al. (2009) Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci 50:1058-64
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1058-1064
    • Gronskov, K.1    Ek, J.2    Sand, A.3
  • 6
    • 52949149668 scopus 로고    scopus 로고
    • Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics
    • Huizing M, Helip-Wooley A, Westbroek W et al. (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 9:359-86
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 359-386
    • Huizing, M.1    Helip-Wooley, A.2    Westbroek, W.3
  • 7
    • 51749112040 scopus 로고    scopus 로고
    • Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type
    • Hutton SM, Spritz RA (2008) Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol 128:2442-50
    • (2008) J Invest Dermatol , vol.128 , pp. 2442-2450
    • Hutton, S.M.1    Spritz, R.A.2
  • 8
    • 80051875324 scopus 로고    scopus 로고
    • Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: Application to chemical analysis of human hair melanins
    • Ito S, Nakanishi Y, Valenzuela RK et al. (2011) Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: application to chemical analysis of human hair melanins. Pigment Cell Melanoma Res 24:605-13
    • (2011) Pigment Cell Melanoma Res , vol.24 , pp. 605-613
    • Ito, S.1    Nakanishi, Y.2    Valenzuela, R.K.3
  • 9
    • 78651426731 scopus 로고    scopus 로고
    • Human hair melanins: What we have learned and have not learned from mouse coat color pigmentation
    • Ito S, Wakamatsu K (2010) Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation. Pigment Cell Melanoma Res 24:63-74
    • (2010) Pigment Cell Melanoma Res , vol.24 , pp. 63-74
    • Ito, S.1    Wakamatsu, K.2
  • 10
    • 81155138239 scopus 로고    scopus 로고
    • Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin
    • Ito S, Wakamatsu K (2011) Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin. J Eur Acad Dermatol Venereol 25:1369-80
    • (2011) J Eur Acad Dermatol Venereol , vol.25 , pp. 1369-1380
    • Ito, S.1    Wakamatsu, K.2
  • 11
    • 84879797845 scopus 로고    scopus 로고
    • OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24
    • doi:10.1111/cge.12019
    • Kausar T, Bhatti M, Ali M et al. (2012) OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. doi:10.1111/cge.12019
    • (2012) Clin Genet
    • Kausar, T.1    Bhatti, M.2    Ali, M.3
  • 13
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26:589-95
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 14
    • 66449114324 scopus 로고    scopus 로고
    • SNP detection for massively parallel whole-genome resequencing
    • Li R, Li Y, Fang X et al. (2009) SNP detection for massively parallel whole-genome resequencing. Genome Res 19:1124-32
    • (2009) Genome Res , vol.19 , pp. 1124-1132
    • Li, R.1    Li, Y.2    Fang, X.3
  • 15
    • 33646338630 scopus 로고    scopus 로고
    • Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database
    • DOI 10.1002/humu.20309
    • Li W, He M, Zhou H et al. (2006) Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. Hum Mutat 27:402-7 (Pubitemid 43673325)
    • (2006) Human Mutation , vol.27 , Issue.5 , pp. 402-407
    • Li, W.1    He, M.2    Zhou, H.3    Bourne, J.W.4    Liang, P.5
  • 16
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-303
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3
  • 17
    • 84868212392 scopus 로고    scopus 로고
    • Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
    • Mondal M, Sengupta M, Samanta S et al. (2012) Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. Gene 511:470-4
    • (2012) Gene , vol.511 , pp. 470-474
    • Mondal, M.1    Sengupta, M.2    Samanta, S.3
  • 19
    • 0038578684 scopus 로고    scopus 로고
    • Oculocutaneous albinism type 1: The last 100 years
    • DOI 10.1034/j.1600-0749.2003.00045.x
    • Oetting WS, Fryer JP, Shriram S et al. (2003) Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16:307-11 (Pubitemid 36597072)
    • (2003) Pigment Cell Research , vol.16 , Issue.3 , pp. 307-311
    • Oetting, W.S.1    Fryer, J.P.2    Shriram, S.3    King, R.A.4
  • 20
    • 52149113510 scopus 로고    scopus 로고
    • Molecular diagnosis of oculocutaneous albinism: New mutations in the OCA1-4 genes and practical aspects
    • Rooryck C, Morice-Picard F, Elcioglu NH et al. (2008) Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res 21:583-7
    • (2008) Pigment Cell Melanoma Res , vol.21 , pp. 583-587
    • Rooryck, C.1    Morice-Picard, F.2    Elcioglu, N.H.3
  • 21
    • 77955879997 scopus 로고    scopus 로고
    • Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene
    • Sengupta M, Mondal M, Jaiswal P et al. (2010) Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. Br J Dermatol 163:487-94
    • (2010) Br J Dermatol , vol.163 , pp. 487-494
    • Sengupta, M.1    Mondal, M.2    Jaiswal, P.3
  • 22
    • 50649121059 scopus 로고    scopus 로고
    • Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes
    • Setty SR, Tenza D, Sviderskaya EV et al. (2008) Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature 454:1142-6
    • (2008) Nature , vol.454 , pp. 1142-1146
    • Setty, S.R.1    Tenza, D.2    Sviderskaya, E.V.3
  • 24
    • 84859738620 scopus 로고    scopus 로고
    • Mechanisms of protein delivery to melanosomes in pigment cells
    • Sitaram A, Marks MS (2012) Mechanisms of protein delivery to melanosomes in pigment cells. Physiology (Bethesda) 27:85-99
    • (2012) Physiology (Bethesda) , vol.27 , pp. 85-99
    • Sitaram, A.1    Marks, M.S.2
  • 25
    • 33845745755 scopus 로고    scopus 로고
    • Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
    • DOI 10.1007/s00414-006-0112-z
    • Soejima M, Koda Y (2007) Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2. Int J Legal Med 121:36-9 (Pubitemid 46009470)
    • (2007) International Journal of Legal Medicine , vol.121 , Issue.1 , pp. 36-39
    • Soejima, M.1    Koda, Y.2
  • 27
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • Sturm RA (2009) Molecular genetics of human pigmentation diversity. Hum Mol Genet 18:R9-17
    • (2009) Hum Mol Genet , vol.18
    • Sturm, R.A.1
  • 28
    • 0037486877 scopus 로고    scopus 로고
    • Characterization of the human RAB38 and RAB7 genes: Exclusion of new major pathological loci for Japanese OCA
    • DOI 10.1016/S0923-1811(03)00071-9
    • Suzuki T, Miyamura Y, Inagaki K et al. (2003) Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. J Dermatol Sci 32:131-6 (Pubitemid 36870759)
    • (2003) Journal of Dermatological Science , vol.32 , Issue.2 , pp. 131-136
    • Suzuki, T.1    Miyamura, Y.2    Inagaki, K.3    Tomita, Y.4
  • 30
    • 76649116222 scopus 로고    scopus 로고
    • A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism
    • Wei A, Wang Y, Long Y et al. (2010) A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol 130:716-24
    • (2010) J Invest Dermatol , vol.130 , pp. 716-724
    • Wei, A.1    Wang, Y.2    Long, Y.3
  • 31
    • 79954570718 scopus 로고    scopus 로고
    • Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
    • Wei A, Yang X, Lian S et al. (2011) Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. J Dermatol Sci 62:124-7
    • (2011) J Dermatol Sci , vol.62 , pp. 124-127
    • Wei, A.1    Yang, X.2    Lian, S.3
  • 32
    • 84874345140 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Pigmentary and non-pigmentary defects and their pathogenesis
    • Wei AH, Li W (2012) Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res 26:176-92
    • (2012) Pigment Cell Melanoma Res , vol.26 , pp. 176-192
    • Wei, A.H.1    Li, W.2
  • 33
    • 0018528081 scopus 로고
    • Albinism: Hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism
    • Witkop CJ (1979) Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 16:327-30
    • (1979) Ala J Med Sci , vol.16 , pp. 327-330
    • Witkop, C.J.1
  • 34
    • 67649216556 scopus 로고    scopus 로고
    • Physiological factors that regulate skin pigmentation
    • Yamaguchi Y, Hearing VJ (2009) Physiological factors that regulate skin pigmentation. Biofactors 35:193-9
    • (2009) Biofactors , vol.35 , pp. 193-199
    • Yamaguchi, Y.1    Hearing, V.J.2
  • 35
    • 84863865892 scopus 로고    scopus 로고
    • The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles
    • Yang Q, He X, Yang L et al. (2012) The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic 13:1160-9
    • (2012) Traffic , vol.13 , pp. 1160-1169
    • Yang, Q.1    He, X.2    Yang, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.