The human cystatin M/E gene (CST6): Exclusion candidate gene for harlequin ichthyosis

Journal of Investigative Dermatology

Volumn 121, Issue 1, 2003, Pages 65-68

  Zeeuwen, Patrick L J M ^a,c   Dale, Beverly A ^b   De Jongh, Gys J ^a   Van Vlijmen Willems, Ivonne M J J ^a   Fleckman, Philip ^b   Kimball, Janet R ^b   Stephens, Karen ^b   Schalkwijk, Joost ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WASHINGTON   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cysteine proteinases; Hair follicle; Mouse mutation; Skin; Stratum corneum

Indexed keywords

CYSTATIN; CYSTATIN E; CYSTATIN M; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CST6 GENE; GENE; GENE ISOLATION; GENE MUTATION; HARLEQUIN ICHTHYOSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ICHTHYOSIS; IMMUNOHISTOCHEMISTRY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY;

EID: 0041842712     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12312.x     Document Type: Article

References (18)

1. Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA: Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 18:425-436, 1998
2. Dale BA, Kam E: Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism. Arch Dermatol 129:1471-1477, 1993
3. Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP: Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: Variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol 94:6-18, 1990
4. Dunnwald M, Zuberi AR, Stephens K, Le R, Sundberg JP, Fleckman P, Dale BA: The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: Mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulation. Exp Dermatol 2003: in press
5. Egelrud T, Lundstrom A: A chymotrypsin-like proteinase that may be involved in desquamation in plantar stratum corneum. Arch Dermatol Res 283:108-112, 1991
6. Herterich R, Hofweber K, Hammerschmid K, Steijlen PM, Happle R: Harlequin-Ichthyosis. Erfolgreiche Therapie mit oralen Retinoiden. Padiatr Praxis Z Kinder-Jugendmedizin 46:93-99, 1993
7. Kalinin A, Matekov LN, Steinert PM: Assembly of the epidermal cornified cell envelope. J Cell Sci 114:3069-3070, 2001
8. Kozak M: At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J Mol Biol 196:947-950, 1987
9. Ni J. Abrahamson M, Zhang M, et al: Cystatin E is a novel human cysteine proteinase inhibitor with structural resemblance to family 2 cystatins. J Biol Chem 272:10853-10858, 1997
10. Schnittger S, Rao VV, Abrahamson M, Hansmann I: Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2. Genomics 16:50-55, 1993
11. Sotiropoulou G, Anisowicz A, Sager R: Identification, cloning, and characterization of cystatin M, a novel cysteine proteinase inhibitor, down-regulated in breast cancer. J Biol Chem 272:903-910, 1997
12. Stenman G, Astrom AK, Roijer E, Sotiropoulou G, Zhang M, Sager R: Assignment of a novel cysteine proteinase inhibitor (CST6) to 11q13 by fluorescence in situ hybridization. Cytogenet Cell Genet 76:45-46, 1997
13. Stewart H, Smith PT, Gaunt L, et al: De novo deletion of chromosome 18q in a baby with harlequin ichthyosis. Am J Med Genet 102:342-345, 2001
14. Sundberg JP, Boggess D, Hogan ME, et al: Harlequin ichthyosis (ichq): A juvenile lethal mouse mutation with ichthyosiform dermatitis. Am J Pathol 151:293-310, 1997
15. Williams ML, Elias PM: Genetically transmitted, generalized disorders of cornification. The ichthyoses. Dermatol Clin 5:155-178, 1987
16. Zeeuwen PL, Vlijmen-Willems IM, Jansen BJ, et al: Cystatin M/E expression is restricted to differentiated epidermal keratinocytes and sweat glands: A new skin-specific proteinase inhibitor that is a target for cross-linking by transglutaminase. J Invest Dermatol 116:693-701, 2001
17. Zeeuwen PL, Vlijmen-Willems IM, Egami H, Schalkwijk J: Cystatin M/E expression in inflammatory and neoplastic skin disorders. Br J Dermatol 147:87-94, 2002a
18. Zeeuwen PL, Vlijmen-Willems IM, Hendriks W, Merkx GF, Schalkwijk J: A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification. Hum Mol Genet 11:2867-2875, 2002b