Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines
Autore:
Huehne, K; Rautenstrauss, B;
Indirizzi:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Erlangen Nurnberg Erlangen Germany D-91054 -91054 Erlangen, Germany
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 6, volume: 7, anno: 2001,
pagine: 669 - 675
SICI:
1107-3756(200106)7:6<669:TSAMPI>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
ARREST-SPECIFIC GENE; MARIE-TOOTH DISEASE; GROWTH ARREST; DNA METHYLATION; DENOVO METHYLATION; MYELIN PROTEIN; CPG ISLANDS; EXPRESSION; SEQUENCES; CANDIDATE;
Keywords:
PMP22; CMT1A; methylation; transcriptional startpoints; glioblastoma; osteosarcoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Rautenstrauss, B Univ Erlangen Nurnberg, Inst Human Genet, Schwabachaniage10, D-91054 Erlangen, Germany Univ Erlangen Nurnberg Schwabachaniage 10 Erlangen Germany D-91054
Citazione:
K. Huehne e B. Rautenstrauss, "Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines", INT J MOL M, 7(6), 2001, pp. 669-675

Abstract

PMP22 is a dosage sensitive gene responsible for Charcot-Marie-Tooth type 1A (CMT1A) neuropathy and hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is expressed in myelinating Schwann cells in the peripheral nerve, but also in a variety of other tissues. PMP22 expression is regulated by alternatively used promoters, the relative expression of the different PMP22 transcripts is tissue-specific. At first we analysed the transcriptional startpoints of the different PMP22 transcripts. Transcript 1A starts from a distinct nucleotide, whereas transcript 1B and the here described transcript 1C revealed multiple transcriptional startpoints in sciatic nerve as well as in the osteosarcoma and glioblastoma cell lines, RH30 and SF763. Using promoter specific primers we identified transcripts from each of the three promoters in sciatic nerve and RH30, whereas transcript 1B is absent in SF763. Leukocytes do not express PMP22 at all. Additionally, we determined the methylation pattern of CpG islands present in the PMP22 promoters 1B and 1C for leukocytes, sciatic nerve, SF763 and RH30, the latter carrying multiple copies of the PMP22 gene. We observed that there was no methylation in promoter 1B and 1C in sciatic nerve and leukocytes. However, hypermethylation of promoter 1B was discovered in SF763 and indicates a silencing effect. In RH30 most copies of promoters 1B and 1C were methylated butthe few remaining hypomethylated copies were sufficient for strong expression of PMP22. These results indicate that the transcriptional control in tumor cell lines is probably different from leukocytes and sciatic nerve.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 05:55:45