Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

Hayasaka, Kiyoshi; Nanao, Kenji; Tahara, Marie; Sato, Wataru; Takada, Goro; Miura, Masayuki; Uyemura, Keiichi

doi:10.1016/s0006-291x(05)81094-0

Cited by 78 publications

(24 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The mutation nomenclature is based on protein reference sequences, such as MIM NP_000157 (GJB1) and MIM NP_000295 (PMP22). Consistent with the CMT mutation database (http://www.molgen.ua.ac.be/ CMTMutations/default.cfm), the nomenclature describing MPZ mutations was based on the MPZ sequence D10537 (http://www.ncbi.nlm.nih.gov/entrez/), as published by Hayasaka et al, 13 and not on the MPZ RefSeq NM_000530…”

Section: Bioinformatics Analysismentioning

confidence: 99%

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Miltenberger-Miltényi

Löscher

Wanschitz

et al. 2009

Eur J Hum Genet

View full text Add to dashboard Cite

Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction b1-protein (GJB1) gene mutations are frequent causes of the CharcotMarie-Tooth disease (CMT). A large number of mutations in these genes are listed in databases. Sequence variants identified in patients are frequently reported as mutations without further evaluation. We analyzed 250 consecutively recruited unrelated Austrian CMT patients for CMT1Adup by microsatellite marker typing, real-time PCR or MLPA, and found 79 duplications (31.6%). The coding regions of the PMP22, MPZ and GJB1 genes were analyzed by direct sequencing in the remaining patients; 28 patients showed mutations, 14 of which were novel. We scored the pathogenicity of novel missense mutations by segregation studies and by their exclusion in control samples. Our comprehensive literature study found that up to 60% of the reported mutations in these genes had not been evaluated regarding their pathogenicity, and the PANTHER bioinformatics tool was used to score novel and published missense variants. The PANTHER program scored known polymorphisms as such, but scored B82-88% only of the published and novel mutations as most likely deleterious. Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters. Our data suggest that this in silico analysis tool could be useful for assessing the functional impact of DNA variations only as a complementary approach. The CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds.

show abstract

Section: Bioinformatics Analysismentioning

confidence: 99%

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Miltenberger-Miltényi

Löscher

Wanschitz

et al. 2009

Eur J Hum Genet

View full text Add to dashboard Cite

show abstract

“…In fact, a contactin-like interaction of the ß 2 -subunit with molecules of the extracellular matrix, namely tenascin-C and tenascin-R, has been observed [53]. With respect to overall length, putative transmembrane topology and amino acid sequence, the ß 2 -subunit is related to the major protein of myelin, myelin P0 (MPZ) [54], epithelial Vlike antigen (EVA) [55] and to protein zero related protein (PZR) [56] ( fig. 3; table 2).…”

Section: The ß 2 -Subunitmentioning

confidence: 99%

Isoform Diversity and Modulation of Sodium Channels by Protein Kinases

Schultze-Seemann¹

1999

Cell Physiol Biochem

View full text Add to dashboard Cite

Although voltage-dependent sodium channels from the brain have been realized as targets for regulatory protein phosphorylation since the first isolation of sodium channels as proteins, the functional role of phosphoprotein formation has been obscured until recently. The review summarizes progress on the modulation of voltage-dependent sodium channels by serine/threonine protein kinases, i.e. PKA and PKC. Divergent modulation is discussed in context with divergent primary structure of the α-subunit.

show abstract

“…Meijerink et al 22 propose a role for arginine 69 in the formation and compaction of myelin sheaths, as 2 of their patients with a point mutation (Arg 69 → His and Arg 69 → Cys) in exon 3 had uncompacted myelin, and arginine 69 is conserved in a large number of species. 12 By contrast, tomaculae were observed in significant numbers. Such lesions were reported by Gabreëls-Festen et al 10 from the biopsies of their cases 5, 6, and 7.…”

mentioning

confidence: 92%