Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 1952-1957

  Beaudry, Veronica G ^a   Pathak, Navneeta ^a   Koster, Maranke I ^b   Attardi, Laura D ^a,c  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c CCSR South   (United States)

Author keywords

Biopsy; Ectodermal dysplasia; Immunohistochemistry; Knockout mice; Mutations; PERP; PERP protein; Skin; TP53 apoptosis effector related to PMP22; TP63; Western blotting

Indexed keywords

LUCIFERASE; MEMBRANE PROTEIN; PERP PROTEIN; PROTEIN P63; UNCLASSIFIED DRUG;

AEC SYNDROME; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PERP GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REPORTER GENE; SKIN BIOPSY;

ABNORMALITIES, MULTIPLE; ANIMALS; CELLS, CULTURED; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; EPIDERMIS; EYELIDS; FIBROBLASTS; GENE EXPRESSION REGULATION; GENES, TUMOR SUPPRESSOR; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE PROTEINS; MICE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

MUS;

EID: 69249131771     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32760     Document Type: Article

References (22)

1. Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. 2001. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9:642-645. (Pubitemid 32776382)
2. Attardi LD, Reczek EE, Cosmas C, Demicco EG, McCurrach ME, Lowe SW, Jacks T. 2000. PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family. Genes Dev 14:704-718. (Pubitemid 30176824)
3. Carroll DK, Brugge JS, Attardi LD. 2007. p63, cell adhesion and survival. Cell Cycle 6:255-261.
4. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. 1999. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153. (Pubitemid 29491781)
5. Ghioni P, Bolognese F, Duijf PH, Van Bokhoven H, Mantovani R, Guerrini L. 2002. Complex transcriptional effects of p63 isoforms: Identification of novel activation and repression domains. Mol Cell Biol 22:8659-8668. (Pubitemid 35397180)
6. Huang YP, Kim Y, Li Z, Fomenkov T, Fomenkov A, Ratovitski EA. 2005. AEC-associated p63 mutations lead to alternative splicing/protein stabilization of TP63 and modulation of Notch signaling. Cell Cycle 4: 1440-1447. (Pubitemid 41437136)
7. Ihrie RA, Marques MR, Nguyen BT, Horner JS, Papazoglu C, Bronson RT, Mills AA, Attardi LD. 2005. PERP is a p63-regulated gene essential for epithelial integrity. Cell 120:843-856. (Pubitemid 40568801)
8. Ihrie RA, Bronson RT, Attardi LD. 2006. Adult mice lacking the p53/p63 target gene PERP are not predisposed to spontaneous tumorigenesis but display features of ectodermal dysplasia syndromes. Cell Death Differ 13:1614-1618.
9. Kantaputra PN, Hamada T, Kumchai T, McGrath JA. 2003. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 82:433-437. (Pubitemid 41766007)
10. Kottke MD, Delva E, Kowalczyk AP. 2006. The desmosome: Cell science lessons from human diseases. J Cell Sci 119:797-806.
11. Lo Iacono M, Di Costanzo A, Calogero RA, Mansueto G, Saviozzi S, Crispi S, Pollice A, La Mantia G, Calabro V. 2006. The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. Cell Cycle 5:78-87.
12. Lo Iacono N, Mantero S, Chiarelli A, Garcia E, Mills AA, Morasso MI, Costanzo A, Levi G, Guerrini L, Merlo GR. 2008. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development 135:1377-1388. (Pubitemid 351634259)
13. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. 1997. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240-244.
14. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. 2001. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10:221-229. (Pubitemid 32123980)
15. Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, Bradley A. 1999. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398:708-713. (Pubitemid 29197649)
16. Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, Pawel BR, Honig PJ, Camacho J, Imaizumi S, Heymann WR, Schnur RE. 2005. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: A skin fragility phenotype. Arch Dermatol 141:1567-1573. (Pubitemid 41815848)
17. Truong AB, Kretz M, Ridky TW, Kimmel R, Khavari PA. 2006. p63 regulates proliferation and differentiation of developmentally mature keratinocytes. Genes Dev 20:3185-3197. (Pubitemid 44790632)
18. van Bokhoven H, Brunner HG. 2002. Splitting p63. Am J Hum Genet 71: 1-13.
19. van Bokhoven H, McKeon F. 2002. Mutations in the p53 homolog p63: Allele-specific developmental syndromes in humans. Trends Mol Med 8:133-139. (Pubitemid 34532639)
20. van Bokhoven H, Jung M, Smits AP, van Beersum S, Ruschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. 1999. Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet 64:538-546. (Pubitemid 129500536)
21. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F. 1999. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398:714-718. (Pubitemid 29197650)
22. Yang A, Zhu Z, Kapranov P, McKeon F, Church GM, Gingeras TR, Struhl K. 2006. Relationships between p63 binding, DNA sequence, transcription activity, and biological function in human cells. Mol Cell 24:593-602. (Pubitemid 350284225)