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Gene Review:

Cst6 - cystatin E/M

Mus musculus

Synonyms: 1110017E11Rik, N28197, ichq

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Disease relevance of Cst6

Homozygosity for Cst6 null alleles causes the phenotype of the ichq mouse, which is a model for human harlequin ichthyosis (OMIM 242500), a genetically heterogeneous group of keratinization disorders [1].
Here we report evidence for the mechanism by which deficiency of the cysteine protease inhibitor cystatin M/E (the Cst6 gene product) leads to disturbed cornification, impaired barrier function and dehydration [1].
Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis [2].

High impact information on Cst6

Here we report the isolation and characterization of the mouse Cst6 orthologue and the assignment of the chromosomal localization to the proximal end of mouse chromosome 19 [3].
In wild-type mice, cystatin M/E was found in the stratum granulosum and in the infundibulum of the hair follicle indicating that the anatomical site in the skin where cystatin M/E is normally expressed correlates with the abnormalities at the tissue level in ichq/ichq mice [3].
Very recently we reported that a null mutation in the mouse cystatin M/E gene (Cst6) causes the murine ichq phenotype, which is characterized by abnormalities in cornification and desquamation, demonstrating an essential role for cystatin M/E in the final stages of epidermal differentiation [4].
All candidates are linked to the ichq locus on mouse Chromosome 19, although Ikka is located more distally [5].
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 [5].

Biological context of Cst6

Keratinocytes from skin of +/+, +/ichq and ichq/ichq mice were cultured; all genotypes had similar expression of epidermal differentiation markers [5].

Analytical, diagnostic and therapeutic context of Cst6

Immunohistochemistry confirmed the absence of cystatin M/E at the protein level in ichq/ichq mice [3].
RT-PCR amplification and sequence analysis of each candidate gene did not reveal any mutations in the ichq mouse [5].

References

Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice. Zeeuwen, P.L., van Vlijmen-Willems, I.M., Olthuis, D., Johansen, H.T., Hitomi, K., Hara-Nishimura, I., Powers, J.C., James, K.E., op den Camp, H.J., Lemmens, R., Schalkwijk, J. Hum. Mol. Genet. (2004) [Pubmed]
Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. Sundberg, J.P., Boggess, D., Hogan, M.E., Sundberg, B.A., Rourk, M.H., Harris, B., Johnson, K., Dunstan, R.W., Davisson, M.T. Am. J. Pathol. (1997) [Pubmed]
A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification. Zeeuwen, P.L., van Vlijmen-Willems, I.M., Hendriks, W., Merkx, G.F., Schalkwijk, J. Hum. Mol. Genet. (2002) [Pubmed]
The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. Zeeuwen, P.L., Dale, B.A., de Jongh, G.J., van Vlijmen-Willems, I.M., Fleckman, P., Kimball, J.R., Stephens, K., Schalkwijk, J. J. Invest. Dermatol. (2003) [Pubmed]
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. Dunnwald, M., Zuberi, A.R., Stephens, K., Le, R., Sundberg, J.P., Fleckman, P., Dale, B.A. Exp. Dermatol. (2003) [Pubmed]

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