Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 529-538

  Laiho, Elina ^a,b   Ignatius, Jaakko ^c   Mikkola, Hanna ^a,b   Yee, Vivien C ^e   Teller, David C ^e   Niemi, Kirsti Maria ^b   Saarialho Kere, Ulpu ^b   Kere, Juha ^d   Palotie, Aarno ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c Vaestoliitto   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0030869688     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515498     Document Type: Article

References (38)

1. Aeschlimann D, Paulsson M (1994) Transglutaminases: protein cross-linking enzymes in tissues and body fluids. Thromb Haemost 71:402-415
2. Bale SJ, Doyle SZ (1994) The genetics of ichthyosis: a primer for epidemiologists. J Invest Dermatol Suppl 102:49S-50S
3. Brunger AT (1992) X-PLOR: a system for X-ray crystallography and NMR. Yale University, New Haven
4. de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
5. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
6. Ghadially R, Williams ML, Hou SYE, Elias PM (1992) Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 99: 755-763
7. Hohl D, de Viragh PA, Amiguet-Barras F, Gibbs S, Backendorf C, Huber M (1995) The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins. J Invest Dermatol 104: 902-909
8. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SPM, Ponec M, Bon A, et al (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-528
9. Ichinose A, Hendrickson LE, Fujikawa K, Davie EW (1986) Amino acid sequence of the a subunit of human factor XIII. Biochemistry 25:6900-6906
10. Ikonen E, Baumann M, Grön K, Syvänen A-C, Enomaa N, Halila R, Aula P, et al (1991) Aspartylgluconaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 10:51-58
11. Jalanko A, Manninen T, Peltonen L (1995) Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement. Hum Mol Genet 4:435-441
12. Jones TA, Zou J-Y, Cowan SW, Kjelgaard M (1991) Improved methods for building models in electron density maps and location of errors in these models. Acta Crystallogr A 47: 110-119
13. Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, et al (1994) Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet 93:162-166
14. Kim S-Y, Chung S-I, Steinert PM (1995) Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes. J Biol Chem 270:18026-18035
15. Kraulis PJ (1991) MOLSCRIPT, a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24:946-950
16. McKusick VA (1994) Mendelian inheritance in man, 11th ed. Johns Hopkins University Press, Baltimore
17. Mehrel T, Hohl D, Rothnagel JA, Longley MA, Bundman D, Cheng C, Lichti U, et al (1990) Identification of a major keratinocyte cell envelope protein, loricrin. Cell 61:1103-1112
18. Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A (1994) Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 84:517-525
19. Mikkola H, Yee VC, Syrjälä M, Seitz R, Egbring R, Petrini P, Ljung R, et al (1996) Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood 87:141-151
20. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
21. ParmEntier L, Blanchet-Bardon C, Nguyen S, Prud'homme J-F, Dubertret, Weissenbach J (1995) Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Hum Mol Genet 4:1391-1395
22. ParmEntier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J (1996) Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet 5:555-559
23. Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L (1994) Towards understanding the pathogenic mechanism in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet 3:2223-2229
24. Proia RL, D'Azzo A, Neufield EF (1984) Association of alpha-and beta-subunits during biosynthesis of beta-hexosaminidase in cultured fibroblasts. J Biol Chem 259:3350-3354
25. Rice RC, Green H (1977) The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein. Cell 11:417-422
26. Rice RH, Green H (1979) Presence in human epidermal cells of a soluble protein precursor of the cross-linked protein. Cell 18:681-694
27. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ (1994) Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 55:1146-1152
28. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-283
29. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, et al (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
30. Sambrook J, Fritsch EF, Maniatis T (1987) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, New York
31. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467
32. Stacey A, Schnieke A (1990) SVpoly: a versatile mammalian expression vector. Nucleic Acids Res 18:2829
33. Syvänen AC, Aalto-Setälä K, Harju L, Kontula K, Söderlund H (1990) A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8:684-692
34. Syvänen AC, Aalto-Setälä K, Kontula K, Söderlund H (1989) Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71-74
35. Syvänen A-C, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L (1992) Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics 12:590-595
36. Vesa J, Hellsten E, Verkruyse L-A, Camp LA, Rapola J, Santavuori P, Hofmann SL, et al (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587
37. Williams ML, Elias PM (1985) Heterogeneity in autosomal recessive ichthyosis: clinical and biochemical differentiation of lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Arch Dermatol 121:477-488
38. Yee VC, Pedersen LC, le Trong I, Bishop PD, Stenkamp RE, Teller DC (1994) Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proc Natl Acad Sci USA 91:7296-7300