The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice

被引：32

作者：

Bosen, Felicitas ^{[1
]}

Schuetz, Melanie ^{[1
]}

Beinhauer, Anna ^{[1
]}

Strenzke, Nicola ^{[2
]}

Franz, Thomas ^{[3
]}

Willecke, Klaus ^{[1
]}

机构：

[1] Univ Bonn, LIMES Inst, D-53115 Bonn, Germany

[2] Univ Gottingen, Sch Med, Dept Otolaryngol, InnerEarLab, D-37099 Gottingen, Germany

[3] Univ Bonn, UKB, Inst Anat, D-53115 Bonn, Germany

来源：

FEBS LETTERS | 2014年 / 588卷 / 09期

关键词：

Clouston syndrome; Gap junction; Connexin30; Point mutation; Transgenic mouse line; HIDROTIC ECTODERMAL DYSPLASIA; GJB6; MUTATION; PROLIFERATION; CHANNELS; DEAFNESS; DISEASE; MOUSE; CELLS; GENE;

D O I：

10.1016/j.febslet.2014.03.040

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Distinct mutations in the gap junction protein connexin30 (Cx30) can cause the ectodermal dysplasia Clouston syndrome in humans. We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. Our results show that the mutated Cx30A88V protein is incorporated in gap junctional plaques of the epidermis. Homozygous Cx30A88V mice reveal hyperproliferative and enlarged sebaceous glands as well as a mild palmoplantar hyperkeratosis. Additionally, homozygous mutant mice show an altered hearing profile compared to control mice. We conclude that the Cx30A88V mutation triggers hyperproliferation in the skin and changes the cochlear homeostasis in mice. (C) 2014 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.

引用

页码：1795 / 1801

页数：7

共 27 条

[1] A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis
Baris, H. N.
Zlotogorski, A.
Peretz-Amit, G.
Doviner, V.
Shohat, M.
Reznik-Wolf, H.
Pras, E.
[J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 (06) : 1373 - 1376
[2] Air-Stimulated ATP Release from Keratinocytes Occurs through Connexin Hemichannels
Barr, Travis P.
Albrecht, Phillip J.
Hou, Quanzhi
Mongin, Alexander A.
Strichartz, Gary R.
Rice, Frank L.
[J]. PLOS ONE, 2013, 8 (02):
[3] Selective permeability of different connexin channels to the second messenger cyclic AMP
Bedner, P
Niessen, H
Odermatt, B
Kretz, M
Willecke, K
Harz, H
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (10) : 6673 - 6681
[4] Berger A.C., 2014, J CELL SCI
[5] Expression of keratin K2e in cutaneous and oral lesions - Association with keratinocyte activation, proliferation, and keratinization
Bloor, BK
Tidman, N
Leigh, IM
Odell, E
Dogan, B
Wollina, U
Ghali, L
Waseem, A
[J]. AMERICAN JOURNAL OF PATHOLOGY, 2003, 162 (03) : 963 - 975
[6] Hearing Is Normal without Connexin30
Boulay, Anne-Cecile
del Castillo, Francisco J.
Giraudet, Fabrice
Hamard, Ghislaine
Giaume, Christian
Petit, Christine
Avan, Paul
Cohen-Salmon, Martine
[J]. JOURNAL OF NEUROSCIENCE, 2013, 33 (02) : 430 - 434
[7] Functional studies of human skin disease- and deafness-associated connexin 30 mutations
Common, JEA
Becker, D
Di, WL
Leigh, IM
O'Toole, EA
Kelsell, DP
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 298 (05) : 651 - 656
[8] Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
Essenfelder, GM
Bruzzone, R
Lamartine, J
Charollais, A
Blanchet-Bardon, C
Barbe, MT
Meda, P
Waksman, G
[J]. HUMAN MOLECULAR GENETICS, 2004, 13 (16) : 1703 - 1714
[9] Fraser FC, 2001, AM J MED GENET, V100, P164, DOI 10.1002/1096-8628(20010422)100:2<164::AID-AJMG1244>3.0.CO
[10] 2-W

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