Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines

European Journal of Oral Sciences

Volumn 120, Issue 4, 2012, Pages 269-277

  Fuchs, Helmut ^a   Sabrautzki, Sibylle ^a   Seedorf, Hartwig ^b   Rathkolb, Birgit ^a,c   Rozman, Jan ^a,d   Hans, Wolfgang ^a   Schneider, Ralf ^a   Klaften, Matthias ^a,g   Hölter, Sabine M ^a   Becker, Lore ^a,c   Klempt, Martina ^a,c,h   Elvert, Ralf ^a,d,i   Wurst, Wolfgang ^a,d,e,f   Klopstock, Thomas ^c   Klingenspor, Martin ^d   Wolf, Eckhard ^c   Gailus Durner, Valérie ^a   de Angelis, Martin Hrabě ^a,d  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^f GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^g KARLSRUHE INSTITUTE OF TECHNOLOGY   (Germany)

^h Deutsches Zentrum für Neurodegenerative Erkrankungen Site Munich ^*  (Germany)

ⁱ SANOFI AVENTIS DEUTSCHLAND GMBH   (Germany)

Author keywords

Amelogenesis imperfecta; Enam; Enamelin; Pleiotropic effects

Indexed keywords

ENAMEL PROTEIN; TUFTELIN;

AMELOGENESIS IMPERFECTA; ANIMAL; ARTICLE; BLOOD; DISEASE MODEL; DOMINANT GENE; GENETICS; MOUSE; MOUSE MUTANT; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; PLEIOTROPY; POINT MUTATION;

AMELOGENESIS IMPERFECTA; ANIMALS; DENTAL ENAMEL PROTEINS; DISEASE MODELS, ANIMAL; GENES, DOMINANT; GENETIC PLEIOTROPY; MICE; MICE, KNOCKOUT; PHENOTYPE; POINT MUTATION;

EID: 84864066915     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2012.00966.x     Document Type: Article

References (25)

1. Uchida T, Tanabe T, Fukae M, Shimizu M. Immunocytochemical and immunochemical detection of a 32 kDa nonamelogenin and related proteins in porcine tooth germs. Arch Histol Cytol 1991; 54: 527-538.
2. Nagano T, Oida S, Ando H, Gomi K, Arai T, Fukae M. Relative levels of mRNA encoding enamel proteins in enamel organ epithelia and odontoblasts. J Dent Res 2003; 82: 982-986.
3. Hu JC, Hu Y, Smith CE, McKee MD, Wright JT, Yamakoshi Y, Papagerakis P, Hunter GK, Feng JQ, Yamakoshi F, Simmer JP. Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice. J Biol Chem 2008; 283: 10858-10871.
4. Seedorf H, Klaften M, Eke F, Fuchs H, Seedorf U, Hrabé de Angelis M. A mutation in the enamelin gene in a mouse model. J Dent Res 2007; 86: 764-768.
5. Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J, Shimizu A, Fujimoto N, Kawai A, Miura I, Kaneda H, Kobayashi K, Ishijima J, Maeda T, Gondo Y, Noda T, Wakana S, Shiroishi T. Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). Hum Mol Genet 2005; 14: 575-583.
6. Gailus-Durner V, Fuchs H, Becker L, Bolle I, Brielmeier M, Calzada-Wack J, Elvert R, Ehrhardt N, Dalke C, Franz TJ, Grundner-Culemann E, Hammelbacher S, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kalaydjiev SV, Klempt M, Kling E, Kunder S, Lengger C, Lisse T, Mijalski T, Naton B, Pedersen V, Prehn C, Przemeck G, Rácz I, Reinhard C, Reitmeir P, Schneider I, Schrewe A, Steinkamp R, Zybill C, Adamski J, Beckers J, Behrendt H, Favor J, Graw J, Heldmaier G, Höfler H, Ivandic B, Katus H, Kirchhof P, Klingenspor M, Klopstock T, Lengeling A, Müller W, Ohl F, Ollert M, Quintanilla-Martinez L, Schmidt J, Schulz H, Wolf E, Wurst W, Zimmer A, Busch DH, Hrabé de Angelis M. Introducing the German Mouse Clinic: open access platform for standardized phenotyping. Nat Methods 2005; 2: 403-404.
7. Fuchs H, Gailus-Durner V, Adler T, Pimentel JA, Becker L, Bolle I, Brielmeier M, Calzada-Wack J, Dalke C, Ehrhardt N, Fasnacht N, Ferwagner B, Frischmann U, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Maier H, Moßbrugger I, Mörth C, Naton B, Nöth U, Pasche B, Prehn C, Przemeck G, Puk O, Rácz I, Rathkolb B, Rozman J, Schäble K, Schreiner R, Schrewe A, Sina C, Steinkamp R, Thiele F, Willershäuser M, Zeh R, Adamski J, Busch DH, Beckers J, Behrendt H, Daniel H, Esposito I, Favor J, Graw J, Heldmaier G, Höfler H, Ivandic B, Katus H, Klingenspor M, Klopstock T, Lengeling A, Mempel M, Müller W, Neschen S, Ollert M, Quintanilla-Martinez L, Rosenstiel P, Schmidt J, Schreiber S, Schughart K, Schulz H, Wolf E, Wurst W, Zimmer A, Hrabé de Angelis M. The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models. Curr Pharm Biotechnol 2009; 10: 236-243.
8. Hrabé de Angelis M, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schäble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 2000; 25: 444-447.
9. Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M. Screening for dysmorphological abnormalities-a powerful tool to isolate new mouse mutants. Mamm Genome 2000; 11: 528-530.
10. Seedorf H, Springer IN, Grundner-Culemann E, Albers HK, Reis A, Fuchs H, Hrabé de Angelis M, Açil Y. Amelogenesis imperfecta in a new animal model-a mutation in chromosome 5 (human 4q21). J Dent Res 2004; 83: 608-612.
11. Klaften M, Hrabé de Angelis M. ARTS: a web-based tool for the set-up of high-throughput genome-wide mapping panels for the SNP genotyping of mouse mutants. Nucleic Acids Res 2005; 33: W496-W500.
12. Gailus-Durner V, Fuchs H, Adler T, Aguilar Pimentel A, Becker L, Bolle I, Calzada-Wack J, Dalke C, Ehrhardt N, Ferwagner B, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Mörth C, Moßbrugger I, Naton B, Prehn C, Puk O, Rathkolb B, Rozman J, Schrewe A, Thiele F, Adamski J, Aigner B, Behrendt H, Busch DH, Favor J, Graw J, Heldmaier G, Ivandic B, Katus H, Klingenspor M, Klopstock T, Kremmer E, Ollert M, Quintanilla-Martinez L, Schulz H, Wolf E, Wurst W, Hrabé de Angelis M. Systemic first-line phenotyping. Methods Mol Biol 2009; 530: 463-509.
13. Fuchs H, Gailus-Durner V, Adler T, Aguilar-Pimentel JA, Becker L, Calzada-Wack J, Da Silva-Buttkus P, Neff F, Götz A, Hans W, Hölter SM, Horsch M, Kastenmüller G, Kemter E, Lengger C, Maier H, Matloka M, Möller G, Naton B, Prehn C, Puk O, Rácz I, Rathkolb B, Römisch-Margl W, Rozman J, Wang-Sattler R, Schrewe A, Stöger C, Tost M, Adamski J, Aigner B, Beckers J, Behrendt H, Busch DH, Esposito I, Graw J, Illig T, Ivandic B, Klingenspor M, Klopstock T, Kremmer E, Mempel M, Neschen S, Ollert M, Schulz H, Suhre K, Wolf E, Wurst W, Zimmer A, Hrabě de Angelis M. Mouse phenotyping. Methods 2011; 53: 120-135.
14. Yanagawa T, Itoh K, Uwayama J, Shibata Y, Yamaguchi A, Sano T, Ishii T, Yoshida H, Yamamoto M. Nrf2 deficiency causes tooth decolourization due to iron transport disorder in enamel organ. Genes Cells 2004; 9: 641-651.
15. Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis 2007; 4: 17.
16. Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A 2005; 133A: 138-141.
17. Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med 2003; 14: 387-398.
18. Hu JC, Sun X, Zhang C, Simmer JP. A comparison of enamelin and amelogenin expression in developing mouse molars. Eur J Oral Sci 2001; 109: 125-132.
19. Maquat LE. Nonsense-mediated mRNA decay in mammals. J Cell Sci 2005; 118: 1773-1776.
20. Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res 2005; 84: 1117-1126.
21. Hu JC, Lertlam R, Richardson AS, Smith CE, McKee MD, Simmer JP. Cell proliferation and apoptosis in enamelin null mice. Eur J Oral Sci 2011; 119(Suppl 1): 329-337.
22. Beyeler M, Schild C, Lutz R, Chiquet M, Trueb B. Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin. Exp Cell Res 2010; 316: 1202-1212.
23. Jensen LJ, Kuhn M, Stark M, Chaffron S, Creevey C, Muller J, Doerks T, Julien P, Roth A, Simonovic M, Bork P, von Mering C. STRING 8-a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Res 2009; 37: D412-D416.
24. Scherf M, Epple A, Werner T. The next generation of literature analysis: integration of genomic analysis into text mining. Brief Bioinform 2005; 6: 287-297.
25. Wang H, Tannukit S, Zhu D, Snead ML, Paine ML. Enamel matrix protein interactions. J Bone Miner Res 2005; 20: 1032-1040.