Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene

BMC Genetics

Volumn 13, Issue , 2012, Pages

  Toonen, Joseph ^a   Liang, Lina ^a   Sidjanin, Duska J ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Deletion; Embryonic; EOB; Eyelid; Locus; Mapping; Meibomian; Microsatellite; Mutation

Indexed keywords

PPP1R13L PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EMBRYO; EXON; EYE DEVELOPMENT; EYELID DISEASE; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; HISTOPATHOLOGY; IMMUNOHISTOLOGY; LACRIMAL GLAND; MAMMARY GLAND; MEIBOMIAN GLAND; MOUSE; MUTATION; NAIL; NONHUMAN; PHENOTYPE; PROTEIN EXPRESSION; SALIVARY GLAND; SEBACEOUS GLAND; SKIN; SWEAT GLAND; TOOTH; WAVED WITH OPEN EYELIDS 2 MUTATION;

ANIMALS; EYE ABNORMALITIES; EYELIDS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEIBOMIAN GLANDS; MICE; MUTATION; PROTEIN PHOSPHATASE 1; REPRESSOR PROTEINS;

ANIMALIA; MEIBOMIA; MUS;

EID: 84865337053     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-13-76     Document Type: Article

References (32)

1. Findlater GS, McDougall RD, Kaufman MH. Eyelid development, fusion and subsequent reopening in the mouse. J Anat 1993, 183(Pt 1):121-129. 1259860, 8270467.
2. Teraishi T, Yoshioka M. Electron-microscopic and immunohistochemical studies of eyelid reopening in the mouse. Anat Embryol (Berl) 2001, 204(2):101-107.
3. Li G, Gustafson-Brown C, Hanks SK, Nason K, Arbeit JM, Pogliano K, Wisdom RM, Johnson RS. c-Jun is essential for organization of the epidermal leading edge. Dev Cell 2003, 4(6):865-877. 10.1016/S1534-5807(03)00159-X, 12791271.
4. Weng J, Luo J, Cheng X, Jin C, Zhou X, Qu J, Tu L, Ai D, Li D, Wang J, et al. Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. Proc Natl Acad Sci U S A 2008, 105(16):6081-6086. 10.1073/pnas.0708257105, 2329706, 18424556.
5. Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL, Dunn AR. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 1993, 73(2):249-261. 10.1016/0092-8674(93)90227-H, 8477444.
6. Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O, Lee DC. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 1993, 73(2):263-278. 10.1016/0092-8674(93)90228-I, 8477445.
7. Horiuchi K, Kimura T, Miyamoto T, Takaishi H, Okada Y, Toyama Y, Blobel CP. Cutting edge: TNF-alpha-converting enzyme (TACE/ADAM17) inactivation in mouse myeloid cells prevents lethality from endotoxin shock. J Immunol 2007, 179(5):2686-2689.
8. Hassemer EL, Le Gall SM, Liegel R, McNally M, Chang B, Zeiss CJ, Dubielzig RD, Horiuchi K, Kimura T, Okada Y, et al. The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17. Genetics 2010, 185(1):245-255. 10.1534/genetics.109.113167, 2870960, 20194968.
9. Peschon JJ, Slack JL, Reddy P, Stocking KL, Sunnarborg SW, Lee DC, Russell WE, Castner BJ, Johnson RS, Fitzner JN, et al. An essential role for ectodomain shedding in mammalian development. Science 1998, 282(5392):1281-1284.
10. Luetteke NC, Phillips HK, Qiu TH, Copeland NG, Earp HS, Jenkins NA, Lee DC. The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase. Genes Dev 1994, 8(4):399-413. 10.1101/gad.8.4.399, 8125255.
11. Threadgill DW, Dlugosz AA, Hansen LA, Tennenbaum T, Lichti U, Yee D, LaMantia C, Mourton T, Herrup K, Harris RC, et al. Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science 1995, 269(5221):230-234. 10.1126/science.7618084, 7618084.
12. Miettinen PJ, Berger JE, Meneses J, Phung Y, Pedersen RA, Werb Z, Derynck R. Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. Nature 1995, 376(6538):337-341. 10.1038/376337a0, 7630400.
13. Du X, Tabeta K, Hoebe K, Liu H, Mann N, Mudd S, Crozat K, Sovath S, Gong X, Beutler B. Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in mice. Genetics 2004, 166(1):331-340. 10.1534/genetics.166.1.331, 1470694, 15020428.
14. Lee D, Cross SH, Strunk KE, Morgan JE, Bailey CL, Jackson IJ, Threadgill DW. Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor. Mamm Genome 2004, 15(7):525-536.
15. Mine N, Iwamoto R, Mekada E. HB-EGF promotes epithelial cell migration in eyelid development. Development 2005, 132(19):4317-4326. 10.1242/dev.02030, 16141218.
16. Herron BJ, Rao C, Liu S, Laprade L, Richardson JA, Olivieri E, Semsarian C, Millar SE, Stubbs L, Beier DR. A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice. Hum Mol Genet 2005, 14(5):667-677. 10.1093/hmg/ddi063, 15661756.
17. Bergamaschi D, Samuels Y, O'Neil NJ, Trigiante G, Crook T, Hsieh JK, O'Connor DJ, Zhong S, Campargue I, Tomlinson ML, et al. iASPP oncoprotein is a key inhibitor of p53 conserved from worm to human. Nat Genet 2003, 33(2):162-167. 10.1038/ng1070, 12524540.
18. Yang JP, Hori M, Sanda T, Okamoto T. Identification of a novel inhibitor of nuclear factor-kappaB, RelA-associated inhibitor. J Biol Chem 1999, 274(22):15662-15670. 10.1074/jbc.274.22.15662, 10336463.
19. Chikh A, Matin RN, Senatore V, Hufbauer M, Lavery D, Raimondi C, Ostano P, Mello-Grand M, Ghimenti C, Bahta A, et al. iASPP/p63 autoregulatory feedback loop is required for the homeostasis of stratified epithelia. EMBO J 2011, 30(20):4261-4273. 10.1038/emboj.2011.302, 21897369.
20. Notari M, Hu Y, Koch S, Lu M, Ratnayaka I, Zhong S, Baer C, Pagotto A, Goldin R, Salter V, et al. Inhibitor of apoptosis-stimulating protein of p53 (iASPP) prevents senescence and is required for epithelial stratification. Proc Natl Acad Sci U S A 2011, 108(40):16645-16650. 10.1073/pnas.1102292108, 3189025, 21930934.
21. Liegel R, Chang B, Dubielzig R, Sidjanin DJ. Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice. Mol Genet Metab 2011, 103(1):51-59. 10.1016/j.ymgme.2011.02.002, 3081956, 21353609.
22. Talamas E, Jackson L, Koeberl M, Jackson T, McElwee JL, Hawes NL, Chang B, Jablonski MM, Sidjanin DJ. Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice. Genomics 2006, 88(1):44-51. 10.1016/j.ygeno.2006.02.012, 1509100, 16595169.
23. Sullivan A, Lu X. ASPP: a new family of oncogenes and tumour suppressor genes. Br J Cancer 2007, 96(2):196-200. 10.1038/sj.bjc.6603525, 2359998, 17211478.
24. Robinson RA, Lu X, Jones EY, Siebold C. Biochemical and structural studies of ASPP proteins reveal differential binding to p53, p63, and p73. Structure 2008, 16(2):259-268. 10.1016/j.str.2007.11.012, 18275817.
25. Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH. A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet 2009, 40(1):42-46. 10.1111/j.1365-2052.2008.01796.x, 19016676.
26. Shalom-Feuerstein R, Lena AM, Zhou H, De La Forest Divonne S, Van Bokhoven H, Candi E, Melino G, Aberdam D. DeltaNp63 is an ectodermal gatekeeper of epidermal morphogenesis. Cell Death Differ 2011, 18(5):887-896. 10.1038/cdd.2010.159, 3131930, 21127502.
27. Mikkola ML. Genetic basis of skin appendage development. Semin Cell Dev Biol 2007, 18(2):225-236. 10.1016/j.semcdb.2007.01.007, 17317239.
28. Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009, 149A(9):1980-2002. 10.1002/ajmg.a.32864, 19681154.
29. Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefes Arch Clin Exp Ophthalmol 2004, 242(6):495-500. 10.1007/s00417-004-0868-0, 14963716.
30. Cvekl A, Tamm ER. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays 2004, 26(4):374-386. 10.1002/bies.20009, 2094210, 15057935.
31. Butovich IA. The Meibomian puzzle: combining pieces together. Prog Retin Eye Res 2009, 28(6):483-498. 10.1016/j.preteyeres.2009.07.002, 2783885, 19660571.
32. Nelson JD, Shimazaki J, Benitez-del-Castillo JM, Craig JP, McCulley JP, Den S, Foulks GN. The international workshop on meibomian gland dysfunction: report of the definition and classification subcommittee. Invest Ophthalmol Vis Sci 2011, 52(4):1930-1937. 10.1167/iovs.10-6997b, 3072158, 21450914.