The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

M. Musso; P. Balestra; E. Bellone; D. Cassandrini; E. Di Maria; L. Lamba Doria; M. Grandis; G. Mancardi; A. Schenone; G. Levi; F. Ajmar; P. Mandich

doi:10.1006/nbdi.2001.0397

The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

M. Musso, P. Balestra, E. Bellone, D. Cassandrini, E. Di Maria, L. Lamba Doria, M. Grandis, G. Mancardi, A. Schenone, G. Levi, F. Ajmar, P. Mandich

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

Mutations in the early growth response 2 (EGR2) gene are associated with some forms of Charcot-Marie-Tooth disease (CMT) and other demyelinating neuropathies. These mutations modify the EGR2 binding to specific DNA sequences suggesting a role in the transcriptional control of myelination-specific genes. Here we show that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a sequence in the human Cx32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of Cx32 gene.

Original language	English
Pages (from-to)	700-706
Number of pages	7
Journal	Neurobiology of Disease
Volume	8
Issue number	4
DOIs	https://doi.org/10.1006/nbdi.2001.0397
Publication status	Published - 2001

Keywords

Charcot-Marie-Tooth disease
Cx32
EGR2
Krox20
Myelination

ASJC Scopus subject areas

Neurology

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10.1006/nbdi.2001.0397

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The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. / Musso, M.; Balestra, P.; Bellone, E.; Cassandrini, D.; Di Maria, E.; Lamba Doria, L.; Grandis, M.; Mancardi, G.; Schenone, A.; Levi, G.; Ajmar, F.; Mandich, P.

In: Neurobiology of Disease, Vol. 8, No. 4, 2001, p. 700-706.

Research output: Contribution to journal › Article › peer-review

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abstract = "Mutations in the early growth response 2 (EGR2) gene are associated with some forms of Charcot-Marie-Tooth disease (CMT) and other demyelinating neuropathies. These mutations modify the EGR2 binding to specific DNA sequences suggesting a role in the transcriptional control of myelination-specific genes. Here we show that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a sequence in the human Cx32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of Cx32 gene.",

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author = "M. Musso and P. Balestra and E. Bellone and D. Cassandrini and {Di Maria}, E. and {Lamba Doria}, L. and M. Grandis and G. Mancardi and A. Schenone and G. Levi and F. Ajmar and P. Mandich",

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AU - Musso, M.

AU - Balestra, P.

AU - Bellone, E.

AU - Cassandrini, D.

AU - Di Maria, E.

AU - Lamba Doria, L.

AU - Grandis, M.

AU - Mancardi, G.

AU - Schenone, A.

AU - Levi, G.

AU - Ajmar, F.

AU - Mandich, P.

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AB - Mutations in the early growth response 2 (EGR2) gene are associated with some forms of Charcot-Marie-Tooth disease (CMT) and other demyelinating neuropathies. These mutations modify the EGR2 binding to specific DNA sequences suggesting a role in the transcriptional control of myelination-specific genes. Here we show that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a sequence in the human Cx32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of Cx32 gene.

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