Methylation profile of a CpG Island in the human tyrosine hydroxylase gene

T. Arányi, B. A. Fauchex, N. Faucon Biguet, J. Mallet, R. Meloni

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

We have previously shown that a polymorphic tetranucleotidic repeat (TCAT)n in the first intron of the human tyrosine hydroxylase (TH) gene is associated both with bipolar disorder and schizophrenia and that this microsatellite exhibits transcriptional regulatory activity "in vitro". The human TH gene is located on chromosome 11p15, which contains imprinted genes characterized by differentially methylated regions (DMR). In this context we investigated the methylation profile after bisulfite treatment of a CpG island flanking the repeated sequence, to evaluate the role of epigenetic modifications in the transcriptional regulation of the TH gene. We found differential methylation of TH+ and TH- human cell lines at AP2 and ORE sites in the promoter and a new putative Ap2 site in the first exon of the TH gene. Electrophoretic mobility shift assays show that the recombinant AP2 and SP1 proteins specifically bind to this sequence. Currently, to further characterize these sites and the physiologic relevance of their methylation in the TH gene, we perform single-cell methylation profiling techniques of human mesencephalic TH+and TH- neurons as well as glia.

Original languageEnglish
Pages (from-to)465
Number of pages1
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume96
Issue number4
Publication statusPublished - Aug 7 2000

Fingerprint

CpG Islands
Tyrosine 3-Monooxygenase
Methylation
Genes
Electrophoretic Mobility Shift Assay
Bipolar Disorder
Epigenomics
Neuroglia
Microsatellite Repeats
Introns
Exons
Schizophrenia
Chromosomes
Neurons
Cell Line

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Methylation profile of a CpG Island in the human tyrosine hydroxylase gene. / Arányi, T.; Fauchex, B. A.; Faucon Biguet, N.; Mallet, J.; Meloni, R.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 96, No. 4, 07.08.2000, p. 465.

Research output: Contribution to journalArticle

Arányi, T. ; Fauchex, B. A. ; Faucon Biguet, N. ; Mallet, J. ; Meloni, R. / Methylation profile of a CpG Island in the human tyrosine hydroxylase gene. In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2000 ; Vol. 96, No. 4. pp. 465.
@article{00e7dcc32e6a46e3b7be833c5af0200b,
title = "Methylation profile of a CpG Island in the human tyrosine hydroxylase gene",
abstract = "We have previously shown that a polymorphic tetranucleotidic repeat (TCAT)n in the first intron of the human tyrosine hydroxylase (TH) gene is associated both with bipolar disorder and schizophrenia and that this microsatellite exhibits transcriptional regulatory activity {"}in vitro{"}. The human TH gene is located on chromosome 11p15, which contains imprinted genes characterized by differentially methylated regions (DMR). In this context we investigated the methylation profile after bisulfite treatment of a CpG island flanking the repeated sequence, to evaluate the role of epigenetic modifications in the transcriptional regulation of the TH gene. We found differential methylation of TH+ and TH- human cell lines at AP2 and ORE sites in the promoter and a new putative Ap2 site in the first exon of the TH gene. Electrophoretic mobility shift assays show that the recombinant AP2 and SP1 proteins specifically bind to this sequence. Currently, to further characterize these sites and the physiologic relevance of their methylation in the TH gene, we perform single-cell methylation profiling techniques of human mesencephalic TH+and TH- neurons as well as glia.",
author = "T. Ar{\'a}nyi and Fauchex, {B. A.} and {Faucon Biguet}, N. and J. Mallet and R. Meloni",
year = "2000",
month = "8",
day = "7",
language = "English",
volume = "96",
pages = "465",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Methylation profile of a CpG Island in the human tyrosine hydroxylase gene

AU - Arányi, T.

AU - Fauchex, B. A.

AU - Faucon Biguet, N.

AU - Mallet, J.

AU - Meloni, R.

PY - 2000/8/7

Y1 - 2000/8/7

N2 - We have previously shown that a polymorphic tetranucleotidic repeat (TCAT)n in the first intron of the human tyrosine hydroxylase (TH) gene is associated both with bipolar disorder and schizophrenia and that this microsatellite exhibits transcriptional regulatory activity "in vitro". The human TH gene is located on chromosome 11p15, which contains imprinted genes characterized by differentially methylated regions (DMR). In this context we investigated the methylation profile after bisulfite treatment of a CpG island flanking the repeated sequence, to evaluate the role of epigenetic modifications in the transcriptional regulation of the TH gene. We found differential methylation of TH+ and TH- human cell lines at AP2 and ORE sites in the promoter and a new putative Ap2 site in the first exon of the TH gene. Electrophoretic mobility shift assays show that the recombinant AP2 and SP1 proteins specifically bind to this sequence. Currently, to further characterize these sites and the physiologic relevance of their methylation in the TH gene, we perform single-cell methylation profiling techniques of human mesencephalic TH+and TH- neurons as well as glia.

AB - We have previously shown that a polymorphic tetranucleotidic repeat (TCAT)n in the first intron of the human tyrosine hydroxylase (TH) gene is associated both with bipolar disorder and schizophrenia and that this microsatellite exhibits transcriptional regulatory activity "in vitro". The human TH gene is located on chromosome 11p15, which contains imprinted genes characterized by differentially methylated regions (DMR). In this context we investigated the methylation profile after bisulfite treatment of a CpG island flanking the repeated sequence, to evaluate the role of epigenetic modifications in the transcriptional regulation of the TH gene. We found differential methylation of TH+ and TH- human cell lines at AP2 and ORE sites in the promoter and a new putative Ap2 site in the first exon of the TH gene. Electrophoretic mobility shift assays show that the recombinant AP2 and SP1 proteins specifically bind to this sequence. Currently, to further characterize these sites and the physiologic relevance of their methylation in the TH gene, we perform single-cell methylation profiling techniques of human mesencephalic TH+and TH- neurons as well as glia.

UR - http://www.scopus.com/inward/record.url?scp=0004899005&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0004899005&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:0004899005

VL - 96

SP - 465

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 4

ER -