Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: Significance for mutant transcript level, TGK immunodetection and activity

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 218-228

  Petit, Elisabeth ^a   Huber, Marcel ^b   Rochat, Ariane ^c   Bodemer, Christine ^d   Teillac Hamel, Dominique ^d   Müh, Jean Pierre ^e   Revuz, Jean ^f   Barrandon, Yann ^c   Lathrop, Mark ^a   De Prost, Yves ^d   Hohl, Daniel ^b   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c ECOLE NORMALE SUPÉRIEURE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CHU BRETONNEAU   (France)

^f HENRI MONDOR HOSPITAL   (France)

Author keywords

Cornified cell envelope; Keratinocyte transglutaminase or transglutaminase 1; Lamellar ichthyosis; Mutation

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; TRANSCRIPTION FACTOR SP1;

ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; EXON; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; KERATINOCYTE; LAMELLAR ICHTHYOSIS; NORTHERN BLOTTING; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN STABILITY;

EID: 12644254736     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484767     Document Type: Article

References (34)

1. Williams ML, Elias PM: Genetically transmitted, generalized, disorders of cornification; in Alper JC (ed): Dermatologie Clinics. Philadelphia, Saunders, 1987, vol 5, pp 155-178.
2. Traupe H: The lamellar ichthyoses; in Traupe H (ed): The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin, Springer-Verlag, 1989, pp 111-134.
3. Reichert U, Michel S, Schmidt R: The cornified envelope: A key structure of terminally differentiating keratinocytes; in Darmon M, Blumenberg M (eds): Molecular biology of the skin. San Diego, Academic Press, 1993, pp 107-150.
4. Rice RH, Green H: Relation of protein synthesis and transglutaminase activity to formation of the cross-linked envelope during terminal differentiation of the cultured human epidermal keratinocyte. J Cell Biol 1978;76:705-711.
5. Thacher SM, Rice RH: Keratinocyte-specific transglutaminase of cultured human epidermal cells: Relation to cross-linked envelope formation and terminal differentiation. Cell 1985;40: 685-695.
6. Polakowska RR, Goldsmith LA: The cell envelope and transglutaminases; in Goldsmith LA (ed): Physiology, biochemistry, and molecular biology of the skin. New York, Oxford University Press, 1991, vol 1, pp 168-201.
7. Steven AC, Steinert PM: Protein composition of the cornified cell envelope of epidermal keratinocytes. J Cell Sci 1994;107:693-700.
8. Hohl D, Huber M, Frenk E: Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 1993;129:618-624.
9. Lavrijsen S, Maruyama T: Absent transglutaminase TGK expression in 2 out of 3 patients with lamellar ichthyosis. Arch Dermatol 1995; 434:363-364.
10. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ: Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994;55:1146-1152.
11. Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM: Structure and organization of the human transglutaminase 1 gene. J Biol Chem 1992;7710-7717.
12. Yamanishi K, Inazawa J, Liew F-W, Nonomura K, Ariyama T, Yasuno H, Abe T, Doi H, Hirano J, Fukushima S: Structure of the gene for transglutaminase 1. J Biol Chem 1992;267: 17858-17863.
13. 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.
14. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SPM, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995;267:525-528.
15. 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. Nature Genet 1995;9:279-283.
16. Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme J-F, Dubertret L, Weissenbach J: Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Hum Mol Genet 1995;4:1391-1395.
17. Bichakjian CK, Wu WW, Elder JT, Nair RP: Two new mutations in the transglutaminase 1 gene in a lamellar ichthyosis kindred (abstract). J Invest Dermatol 1996;106:905.
18. Hennies H-C, Mackova A, Ehrig T, Küster W, Reis A: Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis (LI) caused by TGM1 gene mutations and evidence for genetic heterogeneity of LI (abstract). Eur J Hum Genet 1996;4(suppl 1):S4.002.
19. Laiho E, Igniatius J, Mikkola H, Niemi K-M, Saarialho-Kere U, Kere J, Palotie A: A mutational hotspot in the transglutaminase 1 gene revealed by the study of an isolated population (abstract). Am J Hum Genet 1996(suppl 59): A267.
20. Russell LJ, Whyte YM, DiGiovanna JJ, Hashem N, Bale SJ, Compton JG: Mutation screening of the transglutaminase 1 gene in patients with lamellar ichthyosis (LI) and other congenital recessive ichthyosis using dideoxy fingerprinting (abstract). J Invest Dermatol 1996;106:843.
21. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D: Lamellar ichthyosis is genetically heterogeneous. Cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995;105: 653-654.
22. Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J: Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet 1996;5:555-559.
23. John SWM, Weitzner G, Rozen R, Scriver CR: A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 1991;19: 408.
24. Church GM, Gilbert W: Genomic sequencing. Proc Natl Acad Sci USA 1984;81:1991-1995.
25. Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in doublestranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90:1035-1039.
26. Rheinwald JG, Green H: Serial cultivation of strains of human epidermal keratinocytes: The formation of keratinizing colonies from single cells. Cell 1975;6:331-334.
27. Thacher SM: Purification of keratinocyte transglutaminase and its expression during squamous differentiation. J Invest Dermatol 1989;89:578-584.
28. Lichti U, Ben T, Yuspa SH: Retinoic acidinduced transglutaminase in mouse epidermal cells is distinct from epidermal transglutaminase. J Biol Chem 1985;260:1422-1426.
29. Chomczynski P, Sacchi N: Single step method of RNA isolation of acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159.
30. Maquat LE: When cells stop making sense: Effect of non-sense codons on RNA metabolism in vertebrate cells. RNA 1995;1:453-465.
31. Lee J-H, Jang S-I, Yang J-M, Markova NG, Steinert PM: The proximal promoter of the human transglutaminase 3 gene. Stratified squamous epithelial-specific expression in cultured cells is mediated by binding of SpI and ets transcription factors to a proximal promoter element. J Biol Chem 1996;271:4561-4568.
32. Mariniello L, Qin Q, Jessen BA, Rice RH: Keratinocyte transglutaminase promoter analysis. Identification of a functional response element. J Biol Chem 1995;270:31358-31363.
33. Kim SY, Kim IG, Chung SI, Steinert PM: The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity. J Biol Chem 1994;269:27979-27986.
34. Bale JS, Russell LJ, Lee ML, Compton JG, DiGiovanna JJ: Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases. J Invest Dermatol 1996;107:808-811.