Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the Arf tumor suppressor

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 2, 2007, Pages 491-499

  Thornton, J Derek ^a   Swanson, Doug J ^b   Mary, Michelle N ^a   Pei, Deqing ^a   Martin, Amy C ^a   Pounds, Stanley ^a   Goldowitz, Dan ^b   Skapek, Stephen X ^a,b  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARF PROTEIN; DNA; GREEN FLUORESCENT PROTEIN; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; SMOOTH MUSCLE ACTIN; CDKN2A PROTEIN, MOUSE; PHOTOPROTEIN; PROTEIN P16INK4A; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL CELL CULTURE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL LINEAGE; CELL TYPE; CHIMERA; CONTROLLED STUDY; CORNEA; EYE DEVELOPMENT; GENE DELETION; GENE EXPRESSION; GENE FUSION; GENOTYPE; IMMUNOFLUORESCENCE TEST; MOUSE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; PERICYTE; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RETINA; SOMATIC MUTATION; TRANSGENE; TUMOR SUPPRESSOR GENE; VITREOUS BODY; WILD TYPE; ANIMAL; C57BL MOUSE; CELL CULTURE; CONFOCAL MICROSCOPY; CONGENITAL MALFORMATION; DISEASE MODEL; EYE MALFORMATION; FLUORESCENCE MICROSCOPY; GENETICS; HYBRID CELL; HYPERPLASIA; MOSAICISM; PATHOLOGY; TRANSGENIC MOUSE; VASCULARIZATION;

ANIMALS; ANIMALS, NEWBORN; CELLS, CULTURED; CHIMERA; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DISEASE MODELS, ANIMAL; EYE ABNORMALITIES; GENE DELETION; GREEN FLUORESCENT PROTEINS; HYBRID CELLS; HYPERPLASIA; LUMINESCENT PROTEINS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MICROSCOPY, CONFOCAL; MICROSCOPY, FLUORESCENCE; MOSAICISM; VITREOUS BODY;

EID: 33847748578     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0765     Document Type: Article

References (43)

1. Ito M, Yoshioka M. Regression of the hyaloid vessels and pupillary membrane of the mouse. Anat Etnbryol. 1999;200:403-411.
2. Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV) LIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 1997;124:587-626.
3. Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol. 1978;23:123-134.
4. Lin AE, Biglan AW, Garver KL. Persistent hyperplastic primary vitreous with vertical transmission. Ophthalmol Paediatr Genet. 1990;11:121-122.
5. Wang MK, Phillips CI. Persistent hyperplastic primary vitreous in non-identical twins. Acta Ophthalmol. 1973;51:434-437.
6. Yu YS, Chang BL. Persistent hyperplastic primary vitreous in male twins. Korean J Ophthalmol. 1997;11:123-125.
7. Hackett SF, Wiegand S, Yancopoulos G, Campohiaro PA. Angiopoietin-2 plays an important role in retinal angiogenesis. J Cell Physiol. 2002;192:182-187.
8. Gale NW, Thurston G, Hackett SF, et al. Angiopoietin-2 is required for postnatal angiogenesis and lymphatic patterning, and only the latter role is rescued by angiopoietin-1. Dev Cell. 2002;3:411-423.
9. Reichel MB, Ali RR, D'Esposito F, et al. High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice. Cell Death Differ. 1998;5:156-162.
10. Ikeda S, Hawes NL, Chang B, Avery CS, Smith RS, Nishina PM. Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice. Invest Ophthalmol Vis Sci. 1999;40:1874-1878.
11. Taharaguchi S, Yoshida K, Tomioka Y, Yoshino S, Uede T, Ono E. Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the Pseudorabies virus. Invest Ophthalmol Vis Sci. 2005;46:1551-1556.
12. Taharaguchi S, Kon Y, Yoshino S, Ono E. Impaired development of the cerebellum in transgenic mice expressing the immediate-early protein IE180 of Pseudorabies virus. Virol. 2003;307:243-254.
13. Lobov IB, Rao S, Carroll TJ, et al. Wnt7b mediates macrophage-induced programmed cell death in patterning the vasculature. Nature. 2005;437:417-421.
14. McKeller RN, Fowler JL, Cunningham JJ, et al. The Arf tumor suppressor gene promotes hyaloid vascular regression during mouse eye development. Proc Natl Acad Sci USA. 2002;99:3848-3853.
15. Martin AC, Thornton JD, Liu J, et al. Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the Arf tumor suppressor gene. Invest Ophthalmol Vis Sci. 2004;45:3387-3396.
16. Sherr CJ. The Ink4a/Arf network in tumour suppression. Nat Rev Mol Cell Biol. 2001;2:731-737.
17. Weber JD, Jeffers JR, Rehg JE, et al. p53-independent functions of the p19Arf tumor suppressor. Genes Dev. 2000;14:2358-2365.
18. Qi Y, Gregory MA, Li Z, Brousal JP, West K, Hann SR. p19Arf directly and differentially controls the functions of c-Myc independently of p53. Nature. 2004;431:712-717.
19. Rocha S, Campbell KJ, Perkins ND. p53- and Mdm2-independent repression of NF-kB transactivation by the ARF tumor suppressor. Mol Cell. 2003;12:15-25.
20. Sugimoto M, Kuo M-L, Roussel MF, Sherr CJ. Nucleolar Arf tumor suppressor inhibits ribosomal RNA processing. Mol Cell. 2003;11: 415-424.
21. Tago K, Chiocca S, Sherr CJ. Sumoylation induced by the Arf tumor suppressor: a p53-independent function. Proc Natl Acad Sci USA. 2005;102:7689-7694.
22. Silva RL, Thornton JD, Martin AC, et al. Arf-dependent regulation of Pdgf signaling in perivascular cells in the developing mouse eye. EMBO J. 2005;24:2803-2814.
23. ARF. Cell. 1997;91:649-659.
24. Quelle DE, Zindy F, Ashmun RA, Sherr CJ. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell. 1995;83:993-1000.
25. Zindy F, Williams RT, Baudino TA, et al. Arf tumor suppressor promoter monitors latent oncogenic signals in vivo. Proc Natl Acad Sci USA. 2003;100:15930-15935.
26. Goldowitz D. The weaver granuloprival phenotype is due to intrinsic action of the mutant locus in granule cells: evidence from homozygous weaver chimeras. Neuron. 1989;2:1565-1575.
27. Graybill FA. Theory and Application of the Linear Model. Pacific Grove, CA: Wadsworth & Brooks/Cole; 1976.
28. Pagano M, Gauvreau K. Principles of Biostatistics. 2nd ed. Pacific Grove, CA: Duxbury; 2000.
29. Song S, Ewald AJ, Stallcup W, Werb Z, Bergers G. PDGFR-beta(+) perivascular progenitor cells in tumours regulate pericyte differentiation and vascular survival. Nat Cell Biol. 2005; 7:870-879.
30. Hirschi KK, Rohovsky SA, D'Amore PA. PDGF, TGF-β, and heterotypic cell-cell interactions mediate endothelial cell-induced recruitment of 10T1/2 cells and their differentiation to a smooth muscle fate. J Cell Biol. 1998;141:805-814.
31. Classon M, Harlow E. The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer. 2002;2:910-917.
32. Wu L, de Bruin A, Saavedra HI, et al. Extra-embryonic function of Rb is essential for embryonic development and viability. Nature. 2003;421:942-947.
33. Lipinski MM, Macleod KF, Williams BO, Mullaney TL, Crowley D, Jacks T. Cell-autonomous and non-cell-autonomous functions of the Rb tumor suppressor in developing central nervous system. EMBO J. 2001;20:3402-3413.
34. Iavarone A, King ER, Dai XM, Leone G, Stanley ER, Lasorella A. Retinoblastoma promotes definitive erythropoiesis by repressing Id2 in fetal liver macrophages. Nature. 2004;432:1040-1045.
35. Kuo M-L, Duncavage EJ, Mathew R, et al. Arf induces p53-dependent and -independent antiproliferative genes. Cancer Res. 2003; 63:1046-1053.
36. Balazs EA, Toth LZ, Ozanics V. Cytological studies and the developing vitreous as related to the hyaloid vessel system. Graefes Arch Ophthalmol. 1980;213:71-85.
37. Crosby JR, Seifert RA, Soriano P, Bowen-Pope DF. Chimaeric analysis reveals role of Pdgf receptors in all muscle lineages. Nat Genet. 1998;18:385-388.
38. Hellstrom M, Kalen M, Lindahl P, Abramsson A, Betsholtz C. Role of PDGF-B and PDGFR-β in recruitment of vascular smooth muscle cells and pericytes during embryonic blood vessel formation in the mouse. Development. 1999;126:3047-3055.
39. Buetow BS, Tappan KA, Crosby JR, Seifert RA, Bowen-Pope DF. Chimera analysis supports a predominant role of PDGFRbeta in promoting smooth-muscle cell chemotaxis after arterial injury. Am J Pathol. 2003;163:979-984.
40. Holycross BJ, Blank RS, Thompson MM, Peach MJ, Owens GK. Platelet-derived growth factor-BB-induced suppression of smooth muscle differentiation. Circ Res. 1992;71:1525-1532.
41. Kaplan-Albuquerque N, Garat C, Van Putten V, Nemenoff RA. Regulation of SM22a expression by arginine vasopressin and PDGF-BB in vascular smooth muscle cells. Am J Physiol. 2003,285: H1444-H1452.
42. Wang S-X, Elder PK, Zheng Y, Strauch AR, Kelm RJ Jr. Cell cycle-mediated regulation of smooth muscle a-actin gene transcription in fibroblasts and vascular smooth muscle cells involves multiple adenovirus E1A-interacting cofactors. J Biol Chem. 2005;280: 6204-6214.
43. Comer KA, Dennis PA, Armstrong L, Catino JJ, Kastan MB, Kumar CC. Human smooth muscle α-actin gene is a transcriptional target of the p53 tumor suppressor protein. Oncogene. 1998;16:1299-1308.