Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis

Journal of Medical Genetics

Volumn 51, Issue 10, 2014, Pages 699-704

  Cui, Hongzhou ^a,b,c   Li, Longnian ^a,c   Wang, Wenjun ^a,c   Shen, Jie ^a,c   Yue, Zhen ^a,c   Zheng, Xiaodong ^a,c   Zuo, Xianbo ^a,c   Liang, Bo ^a,c   Gao, Min ^a,c   Fan, Xing ^a,c   Yin, Xianyong ^a,c   Shen, Changbing ^a,c   Yang, Chao ^a,c   Zhang, Change ^a,c   Zhang, Xiaoguang ^a,c   Sheng, Yujun ^a,c   Gao, Jinping ^a,c   Zhu, Zhengwei ^a,c   Lin, Da ^a,c   Zhang, Anping ^a,c   Wang, Zaixing ^a,c   Liu, Shengxiu ^a,c   Sun, Liangdan ^a,c   Yang, Sen ^a,b,c   Cui, Yong ^a,c   Zhang, Xuejun ^a,b,c   more..

^a ANHUI MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONATE KINASE; PROTEIN; SLC17A9 PROTEIN; UNCLASSIFIED DRUG; NUCLEOTIDE TRANSPORTER; SLC17A9 PROTEIN, HUMAN;

ACTINIC POROKERATOSIS; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS; EXOME; EXON; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDEL MUTATION; MALE; MUTATIONAL ANALYSIS; PATHOGENESIS; PEDIGREE; PREDICTION; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENETICS; NUCLEOTIDE SEQUENCE; POROKERATOSIS;

MAMMALIA;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; MALE; NUCLEOTIDE TRANSPORT PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; POROKERATOSIS;

EID: 84911450454     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102486     Document Type: Article

References (21)

1. Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, Xia K, Chen SX, Li YX, Pan Q, Long ZG, Dai HP, Liao XD, Xiao JF, Liu ZR, Lu CY, Yu KP, Deng HX. Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. J Invest Dermatol 2000;114:1071-4.
2. Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W. A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. Br J Dermatol 2005;152:658-63.
3. Xia K, Deng H, Xia JH, Zheng D, Zhang HL, Lu CY, Li CQ, Pan Q, Dai HP, Yang YF, Long ZG, Deng HX. A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1. Br J Dermatol 2002;147:650-4.
4. Liu P, Zhang S, Yao Q, Liu X, Wang X, Huang C, Huang X, Wang P, Yuan M, Liu JY, Wang QK, Liu M. Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet 2008;123:507-13.
5. Luan J, Niu Z, Zhang J, Crosby ME, Zhang Z, Chu X, Wang Z, Huang W, Xiang L, Zheng Z. A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. Hum Genet 2011;129:329-34.
6. Zhang Z, Niu Z, Yuan W, Liu W, Xiang L, Zhang J, Chu X, Zhao J, Jiang F, Chai B, Cui F, Wang Y, Zhang K, Xu S, Xia L, Gu J, Zhang S, Meng X, Wang S, Gao S, Fan M, Nie L, Zheng Z, Huang W. Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. Hum Mutat 2004;24:438.
7. Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Yu ZY, Zhang HF, Hu X, Yang K, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Zhang XJ. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 2012;44:1156-60.
8. Sawada K, Echigo N, Juge N, Miyaji T, Otsuka M, Omote H, Yamamoto A, Moriyama Y. Identification of a vesicular nucleotide transporter. Proc Natl Acad Sci USA 2008;105:5683-6.
9. Inoue K, Komatsu R, Imura Y, Fujishita K, Shibata K, Moriyama Y, Koizumi S. Mechanism underlying ATP release in human epidermal keratinocytes. J Invest Dermatol 2014;134:1465-8.
10. Sathe MN, Woo K, Kresge C, Bugde A, Luby-Phelps K, Lewis MA, Feranchak AP. Regulation of purinergic signaling in biliary epithelial cells by exocytosis of SLC17A9-dependent ATP-enriched vesicles. J Biol Chem 2011;286:25363-76.
11. Sesma JI, Esther CR Jr, Kreda SM, Jones L, O'Neal W, Nishihara S, Nicholas RA, Lazarowski ER. Endoplasmic reticulum/golgi nucleotide sugar transporters contribute to the cellular release of UDP-sugar signaling molecules. J Biol Chem 2009;284:12572-83.
12. Sesma JI, Kreda SM, Okada SF, van Heusden C, Moussa L, Jones LC, O'Neal WK, Togawa N, Hiasa M, Moriyama Y, Lazarowski ER. Vesicular nucleotide transporter regulates the nucleotide content in airway epithelial mucin granules. Am J Physiol Cell Physiol 2013;304:C976-84.
13. Arcuino G, Lin JH, Takano T, Liu C, Jiang L, Gao Q, Kang J, Nedergaard M. Intercellular calcium signaling mediated by point-source burst release of ATP. Proc Natl Acad Sci USA 2002;99:9840-5.
14. Tokunaga A, Tsukimoto M, Harada H, Moriyama Y, Kojima S. Involvement of SLC17A9-dependent vesicular exocytosis in the mechanism of ATP release during T cell activation. J Biol Chem 2010;285:17406-16.
15. Gibson DF, Ratnam AV, Bikle DD. Evidence for separate control mechanisms at the message, protein, and enzyme activation levels for transglutaminase during calcium-induced differentiation of normal and transformed human keratinocytes. J Invest Dermatol 1996;106:154-61.
16. Lee SH, Elias PM, Proksch E, Menon GK, Mao-Quiang M, Feingold KR. Calcium and potassium are important regulators of barrier homeostasis in murine epidermis. J Clin Invest 1992;89:530-8.
17. Menon GK, Elias PM, Lee SH, Feingold KR. Localization of calcium in murine epidermis following disruption and repair of the permeability barrier. Cell Tissue Res 1992;270:503-12.
18. Mauro T, Bench G, Sidderas-Haddad E, Feingold K, Elias P, Cullander C. Acute barrier perturbation abolishes the Ca2+ and K+ gradients in murine epidermis: quantitative measurement using PIXE. J Invest Dermatol 1998;111:1198-201.
19. Huang Y, Lemieux MJ, Song J, Auer M, Wang DN. Structure and mechanism of the glycerol-3-phosphate transporter from Escherichia coli. Science 2003;301:616-20.
20. Mirza O, Guan L, Verner G, Iwata S, Kaback HR. Structural evidence for induced fit and a mechanism for sugar/H+ symport in LacY. EMBO J 2006;25:1177-83.
21. Reyes N, Gadsby DC. Ion permeation through the Na+,K+-ATPase. Nature 2006;443:470-4.