Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the Arf tumor suppressor gene

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 10, 2004, Pages 3387-3396

  Martin, Amy C ^a   Thornton, J Derek ^a   Liu, Jiewiu ^a   Wang, XiaoFei ^b   Zuo, Jian ^a   Jablonski, Monica M ^b   Chaum, Edward ^b   Zindy, Frederique ^a   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; GREEN FLUORESCENT PROTEIN; VASCULOTROPIN; VASCULOTROPIN RECEPTOR 2;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARF GENE; ARTICLE; CATARACT; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MODEL; DISEASE SEVERITY; GENE; GENE EXPRESSION REGULATION; HISTOPATHOLOGY; HYOID BONE; HYPERPLASIA; IDIOPATHIC DISEASE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INK4A GENE; LEUKOKORIA; LIGAND BINDING; MICROPHTHALMIA; MOUSE; NONHUMAN; OPHTHALMOSCOPY; PATHOGENESIS; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROMOTER REGION; REPRESSOR GENE; RETINA DETACHMENT; RETINA MALFORMATION; RETINA PIGMENT DEGENERATION; TUMOR SUPPRESSOR GENE; VASCULAR ENDOTHELIUM; VITREOUS DISEASE; WILD TYPE;

ANIMALS; CYCLIN-DEPENDENT KINASE INHIBITOR P16; EYE ABNORMALITIES; GENE DELETION; GENE EXPRESSION REGULATION; GENOTYPE; GREEN FLUORESCENT PROTEINS; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LUMINESCENT PROTEINS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NEOVASCULARIZATION, PATHOLOGIC; OPHTHALMOSCOPY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEIN P14ARF; VITREOUS BODY;

EID: 4644344753     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-0349     Document Type: Article

References (60)

1. 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.
2. Ito M, Yoshioka M. Regression of the hyaloid vessels and pupillary membrane of the mouse. Anat Embryol. 1999;200:403-411.
3. Bishop PN. Structural macromolecules and supramolecular organisation of the vitreous gel. Prog Retin Eye Res. 2000;19:323-344.
4. Reese AB. Persistent hyperplastic primary vitreous. Am J Ophthalmol. 1955;40:317-331.
5. Manschot WA. Persistent hyperplastic primary vitreous. AMA Arch Ophthalmol. 1958;59:188-203.
6. Pollard ZF. Persistent hyperplastic primary vitreous: diagnosis, treatment and results. Trans Am Ophthalmol Soc. 1997;95:487-549.
7. Pruett RC. The pleomorphism and complications of posterior hyperplastic primary vitreous. Am J Ophthalmol. 1975;80:625-629.
8. Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous: a clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmo. 1978;23:123-134.
9. Dass AB, Trese MT. Surgical results of persistent hyperplastic primary vitreous. Ophthalmology. 1999;106:280-284.
10. Lin AE, Biglan AW, Garver KL. Persistent hyperplastic primary vitreous with vertical transmission. Ophthalmol Paediatr Genet. 1990;11:121-122.
11. Wang MK, Phillips CI. Persistent hyperplastic primary vitreous in non-identical twins. Acta Ophthalmol. 1973;51:434-437.
12. Yu YS, Chang BL. Persistent hyperplastic primary vitreous in male twins. Kor J Ophthalmol. 1997;11:123-125.
13. Frydman M, Kauschansky A, Leshem I, Savir H. Oculo-palato-cerebral dwarfism: a new syndrome. Clin Genet. 1985;27:414-419.
14. Milot J, Michaud J, Lemieus N, Allaire G, Gagnon M-M. Persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis. Ophthalmology. 1999;106:630-634.
15. Storimans CWJM, Van Schooneveld MJ. Rieger's eye anomaly and persistent hyperplastic primary vitreous. Ophthalmic Paediatr Genet. 1989:10:257-262.
16. Yancopoulos GD, Davis S, Gale NW, Rudge JS, Wiegand SJ, Holash J. Vascular-specific growth factors and blood vessel formation. Nature. 2000;407:242-248.
17. Risau W. Mechanisms of angiogenesis. Nature. 1997:386:671-674.
18. Carmeliet P, Ferreira V, Breier G, et al. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature. 1996;380:435-439.
19. Mitchell CA, Risau W, Drexler HCA. Regression of vessels in the tunica vasculosa lentis is initiated by coordinated endothelial apoptosis: a role for vascular endothelial growth factor as a survival factor for endothelium. Dev Dyn. 1998;213:322-333.
20. Hackett SF, Wiegand S, Yancopoulos G, Campohiaro PA. Angiopoietin-2 plays an important role in retinal angiogenesis. J Cell Pbysiol. 2002;192:182-187.
21. 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.
22. 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.
23. 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.
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. Duro D, Bernard O, Della-Valle V, Berger R, Larsen CJ. A new type of p16Ink4/MTS1 gene transcript expressed in B-cell malignancies. Oncogene. 1995;11:21-29.
26. Mao L, Merlo A, Bedi G, et al. A novel p16Ink4A transcript. Cancer Res. 1995:55:2995-2997.
27. Arf interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell. 1998;92:713-723.
28. Kamijo T, Weber JD, Zambetti G, Zindy F, Roussel MF, Sherr CJ. Functional and physical interactions of the ARK tumor suppressor with p53 and Mdm2. Proc Natl Acad Sci USA. 1998;95:8292-8297.
29. Zhang Y, Xiong Y, Yarbrough WG. ARF Promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell. 1998;92:725-734.
30. ARF. Cell. 1997:91:649-659.
31. 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.
32. Sharpless NE, Bardeesy N, Lee K-H, et al. Loss of p16Ink4a with retention of p19Arf predisposes mice to tumorigenesis. Nature. 2001;413:86-91.
33. Serrano M, Lee H-W, Chin L, Cordon-Cardo C, Beach D, DePinto RA. Role of the INK4a locus in tumor suppression and cell mortality. Cell. 1996:85:27-37.
34. Kato M, Patel MS, Levasseur R, et al. Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient for Lrp5, a Wnt coreceptor. J Cell Biol. 2002;157:303-314.
35. Ozerdem U, Grako KA, Dahlin-Huppe K, Monosov E, Stallcup WB. NG2 proteoglycan is expressed exclusively by mural cells during vascular morphogenesis. Dev Dyn. 2001;222:218-227.
36. Weber JD, Kuo M-L, Bothner B, et al. Cooperative signals governing Arf-Mdm2 interaction and nucleolar localization of the complex. Mol Cell Biol. 2000;20:2517-2528.
37. Ng YS, Rohan R, Sunday ME, Demello DE, D'Amore PA. Differential expression of VEGF isoforms in mouse during development and in the adult. Dev Dyn. 2001;220:112-121.
38. Conlon RA, Rossant J. Exogenous retinoic acid rapidly induces anterior ectopic expression of murine Hox-2 genes in vivo. Development. 1992;116:357-368.
39. Sherr CJ. The Ink4a/Arf network in tumour suppression. Nat Rev Mol Cell Biol. 2001;2:731-737.
40. Sherr CJ. Parsing Ink4a/Arf: "Pure" p16-null mice. Cell. 2001;106:531-534.
41. Warburg M. Norrie's disease: A new hereditary bilateral pseudotumour of the retina. Acta Ophthalmol. 1961;39:757-772.
42. Warburg M. Norrie's disease: differential diagnosis and treatment. Acta Ophthalmol. 1975:53:217-236.
43. Royer G, Hanein S, Raclin V, et al. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003;22:499.
44. Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB. Mutations in the Norrie disease gene. Hum Mutat. 1995:5:285-292.
45. Hartzer MKI, Cheng M, Liu X, Shastry BS. Localization of the Norrie disease gene mRNA by in situ hybridization. Brain Res Bull. 1999;49:355-358.
46. Berger W, van de Pol D, Bachner D, et al. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum Mol Genet. 1996;5:59
47. Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004;116:883-895.
48. Chynn EW, Walton DS, Hahn LB, Dryja TP. Norrie disease. Arch Ophthalmol. 1996;114:1136-1138.
49. Pendergast SD, Trese MT, Liu X, Shastry BS. Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous. Arch Ophthalmol. 1998;116:381-382.
50. Maisonpierre PC, Suri C, Jones PF, et al. Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis. Science. 1997:277:55-60.
51. Lang RA. Apoptosis in mammalian eye development: lens morphogenesis, vascular regression and immune privilege. Cell Death Differ. 1997;4:12-20.
52. Lang RA, Bishop JM. Macrophages are required for cell death and tissue remodeling in the developing mouse eye. Cell. 1993;74:453-462.
53. Sims DE. The pericyte: a review. Tissue Cell. 1986;18:153-174.
54. Beck L Jr, D'Amore PA. Vascular development: cellular and molecular regulation. FASEB J. 1997;11:365-373.
55. Weber JD, Taylor LJ, Roussel MF, Sherr CJ, Bar-Sagi D. Nucleolar Arf sequesters Mdm2 and activates p53. Nat Cell Biol. 1999;1:20-26.
56. Lindahl P, Johansson BR, Leveen P, Betsholtz C. Pericyte loss and microaneurysm formation in PDGF-B-deficient mice. Science. 1997;277:242-245.
57. Weber JD, Jeffers JR, Rehg JE, et al. p53-independent functions of the p19Arf tumor suppressor. Genes Dev. 2000;14:2358-2365.
58. Sugimoto M, Kuo M-L, Roussel MF, Sherr CJ. Nucleolar Arf tumor suppressor inhibits ribosomal RNA processing. Mol Cell. 2003;11:415-424.
59. 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.
60. Fatyol K, Szalay AA. The p14ARF tumor suppressor protein facilitates nucleolar sequestration of hypoxia-inducible factor-1a (HIF-1a) and inhibits HIF-1-mediated transcription. J Biol Chem. 2001;276:28421-28429.