Structure and chromosomal localization of the gene...[Genomics. 1993]

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1: Genomics. 1993 Sep;17(3):755-8. Links

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).

Hayasaka K, Himoro M, Wang Y, Takata M, Minoshima S, Shimizu N, Miura M, Uyemura K, Takada G.

Department of Pediatrics, Akita University School of Medicine, Japan.

We describe the cloning, characterization, and chromosomal mapping of the human myelin protein zero (MPZ) gene. The gene is about 7 kb long and consists of six exons corresponding to the functional domains. All exon-intron junction sequences conform to the GT/AG rule. The 5'-flanking region of the gene has a TA-rich element (TATA-like box), two CAAT boxes, and a single defined transcription initiation site detected by the primer extension method. The gene for human MPZ was assigned to chromosome 1q22-q23 by spot blot hybridization of flow-sorted human chromosomes and fluorescence in situ hybridization. The localization of the MPZ gene coincides with the locus for Charcot-Marie-Tooth disease type 1B, determined by linkage analysis.

PMID: 7503936 [PubMed - indexed for MEDLINE]

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[Genomics. 1993]
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
Proc Natl Acad Sci U S A. 1993 Nov 15; 90(22):10856-60.

[Proc Natl Acad Sci U S A. 1993]
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Hum Mutat. 1996; 7(1):36-45.

[Hum Mutat. 1996]
ReviewMutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
Acta Myol. 2004 May; 23(1):6-9.

[Acta Myol. 2004]
ReviewDemyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Brain. 2003 Jan; 126(Pt 1):134-51.

[Brain. 2003]
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Cited by 4 PubMed Central articles

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Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, et al. Am J Hum Genet. 2003 May; 72(5):1141-53. Epub 2003 Apr 8.

[Am J Hum Genet. 2003]
Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins.
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[BMC Cell Biol. 2002]
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.
Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA. Am J Hum Genet. 2001 Oct; 69(4):883-8. Epub 2001 Aug 28.

[Am J Hum Genet. 2001]
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Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).

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Cited by 4 PubMed Central articles

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