Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis

American Journal of Pathology

Volumn 176, Issue 4, 2010, Pages 1592-1599

  Akiyama, Masashi ^a   Sakai, Kaori ^a   Yanagi, Teruki ^a   Fukushima, Satoshi ^b   Ihn, Hironobu ^b   Hitomi, Kiyotaka ^c   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCEIN ISOTHIOCYANATE; INVOLUCRIN; LORICRIN; PEPTIDE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; TYROSYLGLUTAMYLGLUTAMINYLHISTIDYLLYSYLLEUCYLPROLYLSERYL SERYLTRYPTOPHYLPROLYLPHENYLALANINE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; LAMELLAR ICHTHYOSIS; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SKIING;

EID: 77950579354     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2010.090597     Document Type: Article

References (37)

1. Steinert PM, Marekov LN: The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope. J Biol Chem 1995, 70:17702-17711
2. Akiyama M: Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 2006, 42:83-89
3. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995, 267:525-528
4. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995, 9:279-283
5. Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat 2009, 30:537-547
6. Sakai K, Akiyama M, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, Sugiyama H, Hatano Y, Hayashitani M, Takamori K, Nakashima Keiko, Shimizu H: ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J Invest Dermatol 2009, 129:2306-2309
7. Akiyama M, Shimizu H: An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol 2008, 17:373-382 (Pubitemid 351513951)
8. Jobard F, Lefévre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J: Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002, 1:107-113
9. Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene- Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J: Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003, 12:2369-2378
10. Lefévre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J: Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004, 13:2473-2482
11. Lefévre C, Bouadjar B, Ferrand V, Tadini G, Mé garbané A, Lathrop M, Prud'homme JF, Fischer J: Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006, 15:767-776
12. Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho- Kere U, Kere J, Palotie A: Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997, 61:529-538 (Pubitemid 27418394)
13. Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A: Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998, 62:1052-1061 (Pubitemid 28199005)
14. Laiho E, Niemi K-M, Ignatius J, Kere J, Palotie A, Saarialho-Kere U: Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. Eur J Hum Genet 1999, 7:625-632 (Pubitemid 29424051)
15. Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ: Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 2000, 106:492-499
16. Aeschlimann D, Wetterwald A, Fleisch H, Paulsson M: Expression of tissue transglutaminase in skeletal tissues correlates with events of terminal differentiation of chondrocytes. J Cell Biol 1993, 120:1461-1470 (Pubitemid 23081692)
17. Raghunath M, Hennies HC, Velten F, Wiebe V, Steinert PM, Reis A, Traupe H: A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res 1998, 290:621-627 (Pubitemid 28528666)
18. Hohl D, Aeschlimann D, Huber M: In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - a comparative study. J Invest Dermatol 1998, 110:268-271
19. Akiyama M, Takizawa Y, Kokaji T, Shimizu H: Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001, 144:401-407 (Pubitemid 32178830)
20. Akiyama M, Takizawa Y, Suzuki Y, Ishiko A, Matsuo I, Shimizu H: Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. J Invest Dermatol 2001, 116:992-995 (Pubitemid 32554392)
21. Sugimura Y, Hosono M, Kitamura M, Tsuda T, Yamanishi K, Maki M, Hitomi K: Identification of preferred substrate sequences for transglutaminase 1 - development of a novel peptide that can efficiently detect cross-linking enzyme activity in the skin. FEBS J 2008, 275:5667-5677
22. Sugimura Y, Hosono M, Wada F, Yoshimura T, Maki M, Hitomi K: Screening for the preferred substrate sequence of transglutaminase using a phage-displayed peptide library. Identification of peptide substrates for TGase2 and factor XIIIa J Biol Chem 2006, 281:17699-17706
23. Akiyama M, Smith LT, Shimizu H: Expression of transglutaminase activity in developing human epidermis. Br J Dermatol 2000, 142:223-225 (Pubitemid 30117689)
24. Akiyama M, Takizawa Y, Suzuki Y, Shimizu H: A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Br J Dermatol 2003, 148:149-153 (Pubitemid 36114878)
25. Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, Hata H, Abe M, Arita K, Tsuji-Abe Y, Onozuka T, Aoyagi S, Kodama K, Ujiie H, Tomita Y, Shimizu H: Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 2007, 127:2669-2673 (Pubitemid 47585054)
26. Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, Küster W, Hovnanian A, Hennies HC, Traupe H: Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 2006, 15:3082-3097 (Pubitemid 44605491)
27. Esposito G, Tadini G, Paparo F, Viola A, Ieno L, Pennacchia W, Messina F, Giordano L, Piccirillo A, Auricchio L: Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. Br J Dermatol 2007, 157:808-810 (Pubitemid 47389869)
28. Furutani Y, Kato A, Notoya M, Ghoneim MA, Hirose S: A simple assay and histochemical localization of transglutaminase activity using a derivative of green fluorescent protein as substrate. J Histochem Cytochem 2001, 49:247-258 (Pubitemid 32113387)
29. Oji V, Oji ME, Adamini N, Walker T, Aufenvenne K, Raghunath M, Traupe H: Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1. Br J Dermatol 2006, 154:860-867
30. Hiiragi T, Sasaki H, Nagafuchi A, Sabe H, Shen SC, Matsuki M, Yamanishi K, Tsukita S: Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells. J Biol Chem 1999, 274:34148-34154 (Pubitemid 129511752)
31. Iizuka R, Chiba K, Ohmi-Imajoh S: A novel approach for the detection of proteolytically activated transglutaminase 1 in epidermis using cleavage site-directed antibodies. J Invest Dermatol 2003, 121:457-464 (Pubitemid 37072253)
32. Yee VC, Pedersen LC, Le Trong I, Bishop PD, Stenkamp RE, Teller DC: Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proc Natl Acad Sci USA 1994, 91:7296-7300 (Pubitemid 24226850)
33. Maquat LE: Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004, 5:89-99
34. Lejeune F, Maquat LE: Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005, 17:309-315 (Pubitemid 40719922)
35. Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, Traupe H: Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 2003, 120:224-228 (Pubitemid 36513071)
36. Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA: The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol 2007, 127:490-493
37. Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stöcker W, Traupe H: Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol 2009, 129:2068-2071