Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

American Journal of Human Genetics

Volumn 80, Issue 3, 2007, Pages 467-477

  Basel Vanagaite, Lina ^a,c,d   Attia, Revital ^d   Ishida Yamamoto, Akemi ^e   Rainshtein, Limor ^d   Ben Amitai, Dan ^b   Lurie, Raziel ^b   Pasmanik Chor, Metsada ^d   Indelman, Margarita ^a   Zvulunov, Alex ^b   Saban, Shirley ^g   Magal, Nurit ^d   Sprecher, Eli ^a,f   Shohat, Mordechai ^a,c,d  

^a Department of Medical Genetics ^*  (Israel)

^b Pediatric Dermatology Unit   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e ASAHIKAWA MEDICAL COLLEGE   (Japan)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g WEIZMANN INSTITUTE OF SCIENCE   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MATRIPTASE; MEMBRANE ENZYME; PEPTIDASE; SERINE PROTEINASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 11Q; CONTROLLED STUDY; DESMOSOME; DESQUAMATION; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; HYPOTRICHOSIS; ICHTHYOSIS; KNOCKOUT MOUSE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; NUDE MOUSE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; ST14 GENE; STRATUM CORNEUM;

MUS; MUS MUSCULUS;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENES, RECESSIVE; HUMANS; HYPOTRICHOSIS; ICHTHYOSIS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SERINE ENDOPEPTIDASES;

EID: 33847225554     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/512487     Document Type: Article

References (44)

1. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-528
2. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ (1995) Mutations in the gene for transglutamlnase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-283
3. Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC (2001) Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 69:216-222
4. Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Özgüc M, Lathrop M, Prud'homme J-F, Fischer J (2002) 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 11:107-113
5. Letèvre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, et al (2003) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12:2369-2378
6. Kelsell DP, Norgett EE, Unsworth H, Teh M-T, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, et al (2005) Mutations in ABCA12 underlie the severe congenital skin disease Harlequin ichthyosis. Am J Hum Genet 76:794-803
7. Lefèvre C, Bouadjar B, Karaduman A, Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Özgüc M, Lathrop M, et al (2004) Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482
8. Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathiop M, Prud'homme JF, Fischer J (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767-776
9. Mizrachi-Koren M, Geiger D, Indelman M, Bitterman-Deutsch O, Bergman R, Sprecher E (2005) Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol 125:456-462
10. Virolainen E, Wessman M, Hovatta I, Niemi K-M, Ignatius J, Kere J, Peltonen L, Palotie A (2000) Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet 66:1132-1137
11. Sprecher E (2005) Genetic hair and nail disorders. Clin Dermatol 23:47-55
12. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, AIi M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, et al (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141-142
13. Lestringant GG, Kuster W, Frossard PM, Happle R (1998) Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? Am J Med Genet 75:186-189
14. Tursen U, Kaya TI, Ikizoglu G, Aktekin M, Aras N (2002) Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair: second report. Brit J Derm 147:604-631
15. Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JHJ, Mezzina M, Sarasin A (1997) A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet 60:320-329
16. Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, et al (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Molec Genet 10:2539-2547
17. Yesudian P, Srinivas K (1977) Ichthyosis with unusual hair shaft abnormalities in siblings. Brit J Derm 96:199-203
18. Sambrook J, Fritsch EF, Maniatis T (1987) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
19. Fishelson M, Geiger D (2002) Exact genetic linkage computations for general pedigrees. Bioinformatics Suppl 18:S189-S198
20. Higgins D, Thompson J, Gibson T (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
21. Clamp M, Cuff J, Searle SM, Barton GJ (2004) The Jalview Java alignment editor. Bioinformatics 20:426-427
22. Berezin C, Glaser F, Rosenberg J, Paz I, Pupko T, Fariselli P, Casadio R, Ben-Tal N (2004) ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics 20:1322-1324
23. Ng PC, Henikoff S (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12:436-446
24. Ishida-Yamamoto A, Simon M, Kishibe M, Miyauchi Y, Takahashi H, Yoshida S, O'Brien TJ, Serre G, Iizuka H (2004) Epidermal lamellar granules transport different cargoes as distinct aggregates. J Invest Dermatol 122:1137-1144
25. Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, Elias P, Barrandon Y, Zambruno G, Sonnenberg A, et al (2005) Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 37:56-65
26. Olson LE, Zhang J, Taylor H, Rose DW, Rosenfeld MG (2005) Barx2 functions through distinct corepressor classes to regulate hair follicle remodeling. Proc Natl Acad Sci USA 102:3708-3713
27. List K, Bugge TH, Szabo R (2006) Matriptase: potent proteolysis on the cell surface. Mol Med 12:1-7
28. Konig A, Happle R (1999) Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet 85:365-368
29. Hooper JD, Clements JA, Quigley JP, Antalis TM (2001) Type II transmembrane serine proteases: insights into an emerging class of cell surface proteolytic enzymes. J Biol Chem 276:857-860
30. Lin CY, Anders J, Johnson M, Sang QA, Dickson RB (1999) Molecular cloning of cDNA for matriptase, a matrix-degrading serine protease with trypsin-like activity. J Biol Chem 274:18231-18236
31. Oberst MD, Singh B, Ozdemirli M, Dickson RB, Johnson MD, Lin CY (2003) Characterization of matriptase expression in normal human tissues. J Histochem Cytochem 51:1017-1025
32. List K, Szabo R, Molinolo A, Nielsen BS, Bugge TH (2006) Delineation of matriptase protein expression by enzymatic gene trapping suggests diverging roles in barrier function, hair formation, and squamous cell carclnogenesis. Am J Pathol 168:1513-1512
33. Lin CY, Wang JK, Torri J, Dou L, Sang QA, Dickson RB (1997) Characterization of a novel, membrane-bound, 80-kDa matrix-degrading protease from human breast cancer cells: monoclonal antibody production, isolation, and localization. J Biol Chem 272:9147-9152
34. Cho EG, Kim MG, Kim C, Kim SR, Seong IS, Chung C, Schwartz RH, Park D (2001) N-terminal processing is essential for release of epithin, a mouse type II membrane serine protease. J Biol Chem 276:44581-44589
35. Oberst MD, Williams CA, Dickson RB, Johnson MD, Lin CY (2003) The activation of matriptase requires its noncatalytic domains, serine protease domain, and its cognate inhibitor. J Biol Chem 278:26773-26779
36. Zeeuwen P (2004) Epidermal differentiation: the role of proteases and their inhibitors. Eur J Cell Biol 83:761-773
37. Caubet C, Jonca N, Brattsand M, Guerrin M, Bernard D, Schmidt R, Egelrud T, Simon M, Serre G (2004) Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7.J Invest Dermatol 122:1235-1244
38. Egelrud T, Brattsand M, Kreutzmann P, Waiden M, Vitzithum K, Marx UC, Forssmann WG, Magert HJ (2005) hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6. Br J Dermatol 153:1200-1203
39. Elsayed-Ali H, Barton S, Marks R (1992) Stereological studies of desmosomes in ichthyosis vulgaris. BrJ Dermatol 126:24-28
40. Satomi S, Yamasaki Y, Tsuzuki S, Hitomi Y, Iwanaga T, Fushiki T (2001) A role for membrane-type serine protease (MT-SP1) in intestinal epithelial turnover. Biochem Biophys Res Commun 287:995-1002
41. List K, Haudenschild CC, Szabo R, Chen W, Wahl SM, Swaim W, Engelholm LH, Behrendt N, Bugge TH (2002) Matriptase/ MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis. Oncogene 21:3765-3779
42. List K, Szabo R, Wertz PW, Segre J, Haudenschild CC, Kim SY, Bugge TH (2003) Loss of proteolytically processed filaggrin caused by epidermal deletion of matriptase/MT-SP1. J Cell Biol 163:901-910
43. Ito M, Ito K, Hashimoto K (1984) Pathogenesis in trichorrhexis invaginata (bamboo hair). J Invest Dermatol 83:1-6
44. Lurie R, Garty BZ (1995) Helical hairs: a new hair anomaly in a patient with Netherton's syndrome. Cutis 55:349-352