Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (69)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Smith, F. J.
Right arrow Articles by McLean, W. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Smith, F. J.
Right arrow Articles by McLean, W. H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 7, 1143-1148, Copyright © 1998 by Oxford University Press

ARTICLES

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

FJ Smith, MF Jonkman, H van Goor, CM Coleman, SP Covello, J Uitto and WH McLean
Epithelial Genetics Group, Department of Dermatology and Cutaneous Biology, Jefferson Medical College, 233 South 10th Street, Philadelphia, PA 19107, USA.

Type I and type II keratins form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells. Pachyonychia congenita (PC) is a group of autosomal dominant disorders whose most prominent phenotype is hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia. It has been shown previously that mutations in either K16 or K6a, which form a keratin expression pair, produce the PC-1 variant (MIM 184510). Mutations in K17 alone, an unpaired accessory keratin, result in the PC-2 phenotype (MIM 184500). Here, we describe a family with PC-2 in which the K17 locus on 17q was excluded and linkage to the type II keratin locus on 12q was obtained (Z max 3.31 at straight theta = 0). Mutation analysis of candidate keratins revealed the first reported missense mutation in K6b, implying that this keratin is the previously unknown expression partner of K17, analogous to the K6a/K16 pair. Co-expression of these genes was confirmed by in situ hybridization and immunohistochemical staining. These results reveal the hitherto unknown role of the K6b isoform in epithelial biology, as well as genetic heterogeneity in PC-2.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Am. J. Pathol.Home page
L.-H. Gu and P. A. Coulombe
Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis: Implications for Pachyonychia Congenita and Related Conditions
Am. J. Pathol., September 1, 2008; 173(3): 752 - 761.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
P. Wong, R. Domergue, and P. A. Coulombe
Overcoming Functional Redundancy To Elicit Pachyonychia Congenita-Like Nail Lesions in Transgenic Mice
Mol. Cell. Biol., January 1, 2005; 25(1): 197 - 205.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A Martinez-Mir, A Zlotogorski, D Londono, D Gordon, A Grunn, E Uribe, L Horev, I M Ruiz, N O Davalos, O Alayan, et al.
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24
J. Med. Genet., December 1, 2003; 40(12): 872 - 878.
[Abstract] [Full Text]

Home page
 Arch DermatolHome page
A. S. Paller
Genetic Disorders of Skin: A Decade of Progress
Arch Dermatol, January 1, 2003; 139(1): 74 - 77.
[Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Santos, A. Bravo, C. Lopez, J. M. Paramio, and J. L. Jorcano
Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
J. Biol. Chem., September 13, 2002; 277(38): 35371 - 35377.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
V. Chapalain, H. Winter, L. Langbein, J.-M. Le Roy, C. Labreze, M. Nikolic, J. Schweizer, and A. Taieb
Is the Loose Anagen Hair Syndrome a Keratin Disorder?: A Clinical and Molecular Study
Arch Dermatol, April 1, 2002; 138(4): 501 - 506.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
A. J. Stratigos and H. P. Baden
Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Arch Dermatol, November 1, 2001; 137(11): 1465 - 1471.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
S. M. Wojcik, M. A. Longley, and D. R. Roop
Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b
J. Cell Biol., August 6, 2001; 154(3): 619 - 630.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
P. Wong, E. Colucci-Guyon, K. Takahashi, C. Gu, C. Babinet, and P. A. Coulombe
Introducing a Null Mutation in the Mouse K6{alpha} and K6{beta} Genes Reveals Their Essential Structural Role in the Oral Mucosa
J. Cell Biol., August 21, 2000; 150(4): 921 - 928.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Komine, L. S. Rao, T. Kaneko, M. Tomic-Canic, K. Tamaki, I. M. Freedberg, and M. Blumenberg
Inflammatory Versus Proliferative Processes in Epidermis. TUMOR NECROSIS FACTOR alpha INDUCES K6b KERATIN SYNTHESIS THROUGH A TRANSCRIPTIONAL COMPLEX CONTAINING NFkappa B AND C/EBPbeta
J. Biol. Chem., October 6, 2000; 275(41): 32077 - 32088.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.