DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Chance, Phillip F.; Alderson, Mary Kathryn; Leppig, Kathleen A.; Lensch, M. William; Matsunami, Norisada; Smith, Brooke; Swanson, Phillip D.; Odelberg, Shannon J.; Distèche, Christine M.; Bird, Thomas D.

doi:10.1016/0092-8674(93)90058-x

Cited by 707 publications

(369 citation statements)

References 36 publications

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“…1 Hence, various microdeletion and duplication syndromes on chromosome 17 have been reported. [2][3][4][5][6][7] Deletions of chromosome band 17q24.2 are, however, rare. So far, only nine cases have been reported and five of these were large terminal aberrations ranging from 17q21.3 to qter.…”

Section: Introductionmentioning

confidence: 99%

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

et al. 2011

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Section: Introductionmentioning

confidence: 99%

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

et al. 2011

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“…PMP22 is a major myelin component of Schwann cells, and both gain and loss of PMP22 function leads to peripheral neuropathies in mouse and man. Specifically, the hereditary neuropathy with liability to pressure palsies (HNPP) is caused by a deletion of the PMP22 gene, 11,12 while the demyelinating hereditary motor sensory neuropathy Charcot-Marie-Tooth disease type 1A (CMT1A) is due to a heterozygous duplication of the same DNA segment. 13 In rare cases, CMT1A can also be caused by point mutations in the PMP22 gene, and in mice, similar mutations are associated with the Trembler and Trembler-J phenotype.…”

Section: Introductionmentioning

confidence: 99%

Perp is required for tissue-specific cell survival during zebrafish development

2004

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The tumor suppressor p53 has two alternative effects, causing either cell cycle arrest or apoptosis. These different effects are supposed to be mediated by the transcriptional activation of different target genes. perp, encoding a transmembrane protein of the Pmp22 family, is a transcriptional p53 target exclusively upregulated in apoptotic cells. However, its role during normal development had remained largely unclear. Here, we report the isolation and characterization of a zebrafish perp homolog. Upon overexpression in early zebrafish embryos, perp induces apoptosis. In addition, it contributes to p53-dependent and UVinduced cell death. However, during normal zebrafish development, perp displays a p53-independent and spatially restricted expression in specific cell types and tissues. Antisensemediated loss of Perp function leads to increased apoptosis in perp-expressing cells of the developing skin and notochord. We conclude that, in contrast to its proapoptotic function in stressed cells, Perp plays an antiapoptotic role during normal zebrafish development to regulate tissue-specific cell survival. Cell Death and Differentiation (2005) Keywords: perp; p53; pmp22; apoptosis; cell survival; zebrafish; development Abbreviations: AO, acridine orange; BrdU, 5 0 Bromo-2 0 -desoxyuridine; DNp63, amino-terminally truncated isoform of p63; EST, expressed sequence tag; EVL, enveloping layer; hpf, hours postfertilization; mdm2, mouse double minute 2; MO, morpholino oligonucleotide; RT-PCR, polymerase chain reaction after reverse transcription of RNA; SDS-PAGE, sodiumdodecylsulfate polyacrylamide gel electrophoresis; TAp73, transactivating N-terminally full-length isoform of p73; TUNEL, terminal deoxynucleotidyl transferase-mediated biotinylated UTP nick end labeling; UV, ultraviolet; 4 mm, four mismatch control

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“…However, in most C MT1A patients the PMP22 gene is duplicated (Matsunami et al, 1992;Patel et al, 1992;Timmerman et al, 1992;Valentijn et al, 1992a). Furthermore, a heterozygous deletion of the same chromosomal region that is duplicated in CMT1A families has been detected in patients with hereditary neuropathy with liability to pressure palsies (HN PP) (Chance et al, 1993(Chance et al, , 1994.…”

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confidence: 99%

Neurons Promote the Translocation of Peripheral Myelin Protein 22 into Myelin

et al. 1997

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Schwann cells express low levels of myelin proteins in the absence of neurons. When Schwann cells and neurons are cultured together the production of myelin proteins is elevated, and myelin is formed. For peripheral myelin protein 22 (PMP22), the exact amount of protein produced is critical, because peripheral neuropathies result from its underexpression or overexpression. In this study we examined the effect of neurons on Schwann cell PMP22 production in culture and in peripheral nerve using metabolic labeling and pulse-chase studies as well as immunocytochemistry. Most of the newly synthesized PMP22 in Schwann cells is rapidly degraded in the endoplasmic reticulum. Only a small proportion of the total PMP22 acquires complex glycosylation and accumulates in the Golgi compartment. This material is translocated to the Schwann cell membrane in detectable amounts only when axonal contact and myelination occur. Myelination does not, however, alter the rapid turnover of PMP22 in Schwann cells. PMP22 may therefore be a unique myelin protein in that axonal contact promotes its insertion into the Schwann cell membrane and myelin without altering its rapid turnover rate within the cell.

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Cited by 707 publications

References 36 publications

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Perp is required for tissue-specific cell survival during zebrafish development

Neurons Promote the Translocation of Peripheral Myelin Protein 22 into Myelin

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