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PMID:12359155

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Citation

Isaacs, AM, Jeans, A, Oliver, PL, Vizor, L, Brown, SD, Hunter, AJ and Davies, KE (2002) Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol. Cell. Neurosci. 21:114-25

Abstract

We have identified and characterized a new peripheral myelin protein 22 (Pmp22) mouse mutant. The mutation results in a serine to threonine amino acid substitution at residue 72, which is a hot spot for mutation in human PMP22, leading to the peripheral neuropathy Dejerine-Sottas syndrome. We have previously described two other Pmp22 mutants, providing an allelic series for gene function analysis. Pmp22 mutations generally lead to abnormal intracellular trafficking of Pmp22, and we show that each mutant protein in the allelic series has a unique pattern of intracellular localization in transfected cell lines. The mutant protein from the less severely affected mutants occurs in large aggregates, while the mutant protein from the most severely affected mutant occurs in a diffuse perinuclear pattern that largely colocalizes with wild-type protein. This suggests that large Pmp22 aggregates may be protective in this form of peripheral neuropathy.

Links

PubMed

Keywords

Alleles; Animals; COS Cells; Dimerization; Gene Expression/genetics; Genotype; HeLa Cells; Humans; Mice; Mice, Neurologic Mutants/genetics; Microscopy, Electron; Myelin Proteins/genetics; Myelin Sheath/metabolism; Myelin Sheath/pathology; Myelin Sheath/ultrastructure; Peripheral Nervous System Diseases/genetics; Peripheral Nervous System Diseases/metabolism; Peripheral Nervous System Diseases/pathology; Phenotype; Sciatic Nerve/metabolism; Sciatic Nerve/pathology; Sciatic Nerve/ultrastructure; Transfection

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:PMP22

located_in

GO:0048471: perinuclear region of cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:PMP22

located_in

GO:0016020: membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0022011: myelination in peripheral nervous system

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

part_of

GO:0048471: perinuclear region of cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0048936: peripheral nervous system neuron axonogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1862010
MGI:MGI:1862011
MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0050905: neuromuscular process

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0051259: protein complex oligomerization

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0060005: vestibular reflex

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1862010
MGI:MGI:1862011
MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0061744: motor behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1862010
MGI:MGI:1862011
MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0007628: adult walking behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1862010
MGI:MGI:1862011
MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

acts_upstream_of_or_within

GO:0008344: adult locomotory behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1862010
MGI:MGI:1862011
MGI:MGI:2388488

P

Seeded From UniProt

complete

MOUSE:PMP22

part_of

GO:0016020: membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

Notes

See also

References

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