Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

Natsuga, Ken, Nishie, Wataru, Akiyama, Masashi, Nakamura, Hideki, Shinkuma, Satoru, McMillan, James R., Nagasaki, Akari, Has, Cristina, Ouchi, Takeshi, Ishiko, Akira, Hirako, Yoshiaki, Owaribe, Katsushi, Sawamura, Daisuke, Bruckner-Tuderman, Leena and Shimizu, Hiroshi (2010) Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Human Mutation, 31 3: 308-316. doi:10.1002/humu.21189

Author Natsuga, Ken
Nishie, Wataru
Akiyama, Masashi
Nakamura, Hideki
Shinkuma, Satoru
McMillan, James R.
Nagasaki, Akari
Has, Cristina
Ouchi, Takeshi
Ishiko, Akira
Hirako, Yoshiaki
Owaribe, Katsushi
Sawamura, Daisuke
Bruckner-Tuderman, Leena
Shimizu, Hiroshi
Title Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
Journal name Human Mutation   Check publisher's open access policy
ISSN 1098-1004
Publication date 2010-03
Sub-type Article (original research)
DOI 10.1002/humu.21189
Open Access Status
Volume 31
Issue 3
Start page 308
End page 316
Total pages 9
Place of publication Hoboken, N. J., U.S.
Publisher John Wiley & Sons
Collection year 2011
Language eng
Formatted abstract
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC1) cause two distinct autosomal recessive subtypes of epidermolysis bullosa (EB): EB simplex with muscular dystrophy (EBS-MD), and EB simplex with pyloric atresia (EBS-PA). Here, we demonstrate that normal human fibroblasts express two different plectin isoforms including full-length and rodless forms of plectin. We performed detailed analysis of plectin expression patterns in six EBS-MD and three EBS-PA patients. In EBS-PA, expression of all plectin domains was found to be markedly attenuated or completely lost; in EBS-MD, the expression of the N- and C-terminal domains of plectin remained detectable, although the expression of rod domains was absent or markedly reduced. Our data suggest that loss of the full-length plectin isoform with residual expression of the rodless plectin isoform leads to EBS-MD, and that complete loss or marked attenuation of full-length and rodless plectin expression underlies the more severe EBS-PA phenotype. These results also clearly account for the majority of EBS-MD PLEC1 mutation restriction within the large exon 31 that encodes the plectin rod domain, whereas EBS-PA PLEC1 mutations are generally outside exon 31. Hum Mutat 30:1–9, 2010. © 2010 Wiley-Liss, Inc.
Keyword PLEC1
basement membrane zone
Skeletal Muscle
mRNA decay
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ
Additional Notes Article first published online: 5 JAN 2010

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 22 times in Thomson Reuters Web of Science Article | Citations
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Created: Mon, 06 Dec 2010, 15:25:02 EST by Lisa Hennell on behalf of School of Medicine