NDLI: Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

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Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

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Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

Content Provider	Springer Nature Link
Author	Venken, Koen Di Maria, Emilio Bellone, Emilia Balestra, Piercesare Cassandrini, Denise Mandich, Paola De Jonghe, Peter Timmerman, Vincent Svaren, John
Copyright Year	2001
Abstract	EGR2/Krox-20, a Cys2-His2 zinc finger transcription factor, plays an essential role in the regulation of myelination in the peripheral nervous system. Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. One recessive mutation (I268N) is known to affect the inhibitory domain that binds the NAB transcriptional corepressors, NAB1 and NAB2. This mutation abolishes the interaction of EGR2 with the NAB corepressors and thereby increases transcriptional activity. Therefore, we hypothesized that mutations in the EGR2-interacting domains of NAB1 and NAB2 might be associated with the pathogenesis of inherited peripheral neuropathies in currently unexplained cases. However, screening 87 such cases failed to identify any disease-causing mutations within the EGR2-interacting domains of either NAB1 or NAB2. A further mutation analysis of the complete coding regions of NAB1 and NAB2 in these genomic DNA samples did not uncover any disease-causing mutation. Therefore, our analysis indicates that mutations in the human NAB1 and NAB2 genes are most likely not involved in the pathogenesis of peripheral neuropathies.
Starting Page	37
Ending Page	41
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	4
Issue Number	1
Language	English
Publisher	Springer-Verlag
Publisher Date	2001-12-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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