DOI: 10.1101/gad.8.21.2563. A functional "knockout" of human keratin 14.

A functional "knockout" of human keratin 14.

10.1101/gad.8.21.2563

Crossref journal-article

Cold Spring Harbor Laboratory

Genes & Development (246)

Abstract

The importance of keratins and other intermediate filaments in the maintenance of tissue structure is emphasized by the discovery that many hereditary skin-blistering diseases are caused by mutations in keratin genes. Here, we describe a situation in which keratin 14 (K14) is missing altogether in the epidermis: A homozygous 2-nucleotide deletion in exon I of the K14 gene causes premature termination of the mRNA transcripts upstream from the start of the rod domain and results in a K14 null phenotype. In this individual no keratin intermediate filaments are visible in basal epidermal cells, although filaments are present in the upper layers of the epidermis. No compensating keratin expression is detected in vivo, and K14 mRNA is down-regulated. The individual, diagnosed as Köbner (generalized) EBS, suffers from severe widespread keratinocyte fragility and blistering at many body sites, but although the phenotype is severe, it is not lethal. This K14-/- phenotype confirms that only one K14 gene is expressed in human epidermis and provides an important model system for examining the interdependence of different keratin filament systems and their associated structures in the skin.

Bibliography

Rugg, E. L., McLean, W. H., Lane, E. B., Pitera, R., McMillan, J. R., Dopping-Hepenstal, P. J., Navsaria, H. A., Leigh, I. M., & Eady, R. A. (1994). A functional âknockoutâ of human keratin 14. Genes & Development, 8(21), 2563â2573.

Authors 9

E L Rugg (first)
W H McLean (additional)
E B Lane (additional)
R Pitera (additional)
J R McMillan (additional)
P J Dopping-Hepenstal (additional)
H A Navsaria (additional)
I M Leigh (additional)
R A Eady (additional)

References 62 Referenced 148

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Dates

Type	When
Created	18 years, 2 months ago (June 5, 2007, 5:15 p.m.)
Deposited	3 years, 9 months ago (Nov. 14, 2021, 9:26 p.m.)
Indexed	1 month, 2 weeks ago (July 2, 2025, 2:46 p.m.)
Issued	30 years, 9 months ago (Nov. 1, 1994)
Published	30 years, 9 months ago (Nov. 1, 1994)
Published Online	30 years, 9 months ago (Nov. 1, 1994)
Published Print	30 years, 9 months ago (Nov. 1, 1994)

Funders 0

None

BibTeX

@article{Rugg_1994, title={A functional “knockout” of human keratin 14.}, volume={8}, ISSN={1549-5477}, url={http://dx.doi.org/10.1101/gad.8.21.2563}, DOI={10.1101/gad.8.21.2563}, number={21}, journal={Genes & Development}, publisher={Cold Spring Harbor Laboratory}, author={Rugg, E L and McLean, W H and Lane, E B and Pitera, R and McMillan, J R and Dopping-Hepenstal, P J and Navsaria, H A and Leigh, I M and Eady, R A}, year={1994}, month=nov, pages={2563–2573} }

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