Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Human Mutation

Volumn 30, Issue 5, 2009, Pages

  Zhang, Tianxiao ^a   Hua, Rui ^b   Xiao, Wei ^a   Burdon, Kathryn P ^c   Bhattacharya, Shomi S ^d   Craig, Jamie E ^c   Shang, Dandan ^b   Zhao, Xiuli ^b   Mackey, David A ^f   Moore, Anthony T ^d,e   Luo, Yang ^a   Zhang, Jinsong ^a   Zhang, Xue ^b  

^a CHINA MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c FLINDERS UNIVERSITY   (Australia)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MOORFIELDS EYE HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Congenital cataract; Eph receptor tyrosine kinase; EPHA2; Frameshift; Missense; Splicing

Indexed keywords

EPHRIN RECEPTOR A2; POLYPEPTIDE; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE PHOSPHATASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DISORDER; CARBOXY TERMINAL SEQUENCE; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; FAMILY; FRAMESHIFT MUTATION; GENE INTERACTION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOLECULAR WEIGHT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SPLICING DEFECT;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHINA; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTOR, EPHA2; REPRODUCIBILITY OF RESULTS; RNA SPLICING; RNA, MESSENGER; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 66749121943     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20995     Document Type: Article

References (22)

1. Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA. 2007. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis 13:1635-1640.
2. Cooper MA, Son AI, Komlos D, Sun Y, Kleiman NJ, Zhou R. 2008. Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract. Proc Natl Acad Sci USA 105:16620-16625.
3. Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP. 2008. A novel locus for X-linked congenital cataract on Xq24. Mol Vis 14:721-726.
4. Ding L, Getz G, Wheeler DA, Mardis ER, McLellan MD, Cibulskis K, Sougnez C, Greulich H, Muzny DM, Morgan MB, Fulton L, Fulton RS, Zhang Q, Wendl MC, Lawrence MS, Larson DE, Chen K, Dooling DJ, Sabo A, Hawes AC, Shen H,
5. Jhangiani SN, Lewis LR, Hall O, Zhu Y, Mathew T, Ren Y, Yao J, Scherer SE, Clerc K, Metcalf GA, Ng B, Milosavljevic A, Gonzalez-Garay ML, Osborne JR, Meyer R, Shi X, Tang Y, Koboldt DC, Lin L, Abbott R, Miner TL, Pohl C, Fewell G, Haipek C, Schmidt H, Dunford-Shore BH, Kraja A, Crosby SD, Sawyer CS, Vickery T, Sander S, Robinson J, Winckler W, Baldwin J, Chirieac LR, Dutt A, Fennell T, Hanna M, Johnson BE, Onofrio RC, Thomas RK, Tonon G, Weir BA, Zhao X, Ziaugra L, Zody MC, Giordano T, Orringer MB, Roth JA, Spitz MR, Wistuba II, Ozenberger B, Good PJ, Chang AC, Beer DG, Watson MA, Ladanyi M, Broderick S, Yoshizawa A, Travis WD, Pao W, Province MA, Weinstock GM, Varmus HE, Gabriel SB, Lander ES, Gibbs RA, Meyerson M, Wilson RK. 2008. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455:1069-1075.
6. Fang WB, Ireton RC, Zhuang G, Takahashi T, Reynolds A, Chen J. 2008. Overexpression of EPHA2 receptor destabilizes adherens junctions via a RhoA-dependent mechanism. J Cell Sci 121:358-368.
7. Hejtmancik JF. 2008. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19:134-149.
8. Hirai H, Maru Y, Hagiwara K, Nishida J, Takaku F. 1987. A novel putative tyrosine kinase receptor encoded by the eph gene. Science 238:1717-1720.
9. Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. 1997. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet 6:47-51.
10. Kikawa KD, Vidale DR, Van Etten RL, Kinch MS. 2002. Regulation of the EphA2 kinase by the low molecular weight tyrosine phosphatase induces transformation. J Biol Chem 277:39274-39279.
11. Lackmann M, Boyd AW. 2008. Eph, a protein family coming of age: more confusion, insight, or complexity? Sci Signal 1(15):re2.
12. Marchler-Bauer A, Anderson JB, Derbyshire MK, DeWeese-Scott C, Gonzales NR, Gwadz M, Hao L, He S, Hurwitz DI, Jackson JD, Ke Z, Krylov D, Lanczycki CJ, Liebert CA, Liu C, Lu F, Lu S, Marchler GH, Mullokandov M, Song JS, Thanki N, Yamashita RA, Yin JJ, Zhang D, Bryant SH. 2007. CDD: a conserved domain database for interactive domain family analysis. Nucleic Acids Res 35:D237-240.
13. McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA. 2005. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. Br J Ophthalmol 89:831-834.
14. Parri M, Buricchi F, Taddei ML, Giannoni E, Raugei G, Ramponi G, Chiarugi P. 2005. EphrinA1 repulsive response is regulated by an EphA2 tyrosine phosphatase. J Biol Chem 280:34008-34018
15. Pasquale EB. 2005. Eph receptor signalling casts a wide net on cell behaviour. Nat Rev Mol Cell Biol 6:462-475.
16. Pasquale EB. 2008. Eph-ephrin bidirectional signaling in physiology and disease. Cell 133:38-52.
17. Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF. 2008. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis 14:2042-2055.
18. Stapleton D, Balan I, Pawson T, Sicheri F. 1999. The crystal structure of an Eph receptor SAM domain reveals a mechanism for modular dimerization. Nat Struct Biol 6:44-49.
19. Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. 2004. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101:8652-8657.
20. Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y. 2007. A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1. Mol Vis 13:1357-1362.
21. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. 2004. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 74:1209-1215.
22. Wood LD, Calhoun ES, Silliman N, Ptak J, Szabo S, Powell SM, Riggins GJ, Wang TL, Yan H, Gazdar A, Kern SE, Pennacchio L, Kinzler KW, Vogelstein B, Velculescu VE. 2006. Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. Hum Mutat 27:1060-1061.