Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction

被引：45

作者：

Houlden, H

Girard, M

Cockerell, C

Ingram, D

Wood, NW

Goossens, M

Walker, RWH

Reilly, MM

机构：

[1] UCL Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England

[2] Neurol Inst, Dept Mol Neurosci, London WC1N 3BG, England

[3] St Bartholomews Hosp, London, England

[4] Royal London Hosp, London E1 1BB, England

[5] Princess Alexandra Hosp, Harlow, Essex, England

[6] Hop Henri Mondor, U466, INSERM, F-94010 Creteil, France

[7] UCL Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, London WC1N 3BG, England

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 05期

关键词：

D O I：

10.1002/ana.20267

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.

引用

页码：730 / 734

页数：5

共 23 条

[1] Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene
Ainsworth, PJ
Bolton, CF
Murphy, BC
Stuart, JA
Hahn, AF
[J]. HUMAN GENETICS, 1998, 103 (02) : 242 - 244
[2] CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
BERGOFFEN, J
SCHERER, SS
WANG, S
SCOTT, MO
BONE, LJ
PAUL, DL
CHEN, K
LENSCH, MW
CHANCE, PF
FISCHBECK, KH
[J]. SCIENCE, 1993, 262 (5142) : 2039 - 2042
[3] Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
Bondurand, N
Girard, M
Pingault, V
Lemort, N
Dubourg, O
Goossens, M
[J]. HUMAN MOLECULAR GENETICS, 2001, 10 (24) : 2783 - 2795
[4] Flagiello Luisa, 1998, Human Mutation, V12, P361
[5] X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY
HAHN, AF
BROWN, WF
KOOPMAN, WJ
FEASBY, TE
[J]. BRAIN, 1990, 113 : 1511 - 1525
[6] Transient, recurrent, white matter lesions in x-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
Hanemann, CO
Bergmann, C
Senderek, J
Zerres, K
Sperfeld, AD
[J]. ARCHIVES OF NEUROLOGY, 2003, 60 (04) : 605 - 609
[7] Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene
Hudder, A
Werner, R
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (44) : 34586 - 34591
[8] Inoue K, 1999, ANN NEUROL, V46, P313, DOI 10.1002/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO
[9] 2-7
[10] Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
Ionasescu, VV
Searby, C
Ionasescu, R
Neuhaus, IM
Werner, R
[J]. NEUROLOGY, 1996, 47 (02) : 541 - 544

← 1 2 3 →