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Author, Editor(s)
Author(s):
Moser, Dirk
Ekawardhani, Savira
Kumsta, Robert
Palmason, Haukur
Bock, Christoph
Athanassiadou, Zoi
Lesch, Klaus-Peter
Meyer, Jobst		dblp
dblp
dblp
dblp
dblp
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Not MPG Author(s):
Moser, Dirk
Ekawardhani, Savira
Kumsta, Robert
Palmason, Haukur
Athanassiadou, Zoi
Lesch, Klaus-Peter
Meyer, Jobst

BibTeX cite key*:

Moser2009

Title

Title*:

Functional Analysis of a Potassium-Chloride Co-Transporter 3 (SLC12A6) Promoter Polymorphism Leading to an Additional DNA Methylation Site

Journal

Journal Title*:

Neuropsychopharmacology
Journal's URL:


Download URL
for the article:

http://dx.doi.org/10.1038/npp.2008.77
Language:

English

Publisher

Publisher's
Name:

Nature Publ. Group
Publisher's URL:


Publisher's
Address:

London
ISSN:

0893-133X

Vol, No, pp, Date

Volume*:

34
Number:

2

Publishing Date:

2009

Pages*:

458-467
Number of
VG Pages:

32

Page Start:

458
Page End:

467

Sequence Number:


DOI:

10.1038/npp.2008.77

Note, Abstract, ©

Note:


(LaTeX) Abstract:

The human potassium-chloride co-transporter 3 (KCC3, SLC12A6) is involved in cell proliferation and in electro-neutral movement of ions across the cell membrane. The gene (SLC12A6) is located on chromosome 15q14, a region that has previously shown linkage with bipolar disorder, schizophrenia, rolandic epilepsy, idiopathic generalized epilepsy, autism and attention deficit/hyperactivity disorder. Furthermore, recessively inherited mutations of SLC12A6 cause Andermann syndrome, characterized by agenesis of the corpus callosum, which is associated with peripheral neuropathy and psychoses. Recently, we have demonstrated the association of two G/A promoter polymorphisms of SLC12A6 with bipolar disorder in a case–control study, and familial segregation of the rare variants as well as a trend toward association with schizophrenia. To investigate functional consequences of these polymorphisms, lymphocyte DNA was extracted, bisulfite modified, and subsequently sequenced. To investigate SLC12A6 promoter activity, various promoter constructs were generated and analyzed by luciferase reporter gene assays. We provide evidence that the G- allele showed a significant reduction of reporter gene expression. In human lymphocytes, the allele harboring the rare upstream G nucleotide was found to be methylated at the adjacent C position, possibly accountable for tissue-specific reduction in gene expression in vivo. Here we demonstrate functionality of an SNP associated with psychiatric disease and our results may represent a functional link between genetic variation and an epigenetic modification.

URL for the Abstract:


Categories,
Keywords:


HyperLinks / References / URLs:


Copyright Message:


Personal Comments:


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Access Level:

Internal

Correlation
MPG Unit:
Max-Planck-Institut für Informatik
MPG Subunit:
Computational Biology and Applied Algorithmics
Appearance:
MPII WWW Server, MPII FTP Server, MPG publications list, university publications list, working group publication list, Fachbeirat, VG Wort


BibTeX Entry:

@ARTICLE{Moser2009,
AUTHOR = {Moser, Dirk and Ekawardhani, Savira and Kumsta, Robert and Palmason, Haukur and Bock, Christoph and Athanassiadou, Zoi and Lesch, Klaus-Peter and Meyer, Jobst},
 TITLE = {Functional Analysis of a Potassium-Chloride Co-Transporter 3 ({SLC12A6}) Promoter Polymorphism Leading to an Additional {DNA} Methylation Site},
 JOURNAL = {Neuropsychopharmacology},
 PUBLISHER = {Nature Publ. Group},
 YEAR = {2009},
 NUMBER = {2},
 VOLUME = {34},
 PAGES = {458--467},
 ADDRESS = {London},
 ISBN = {0893-133X},
 DOI = {10.1038/npp.2008.77},
}

Entry last modified by Anja Becker, 03/12/2010
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Editor(s)
[Library]		Created
12/17/2008 23:08:40
Revisions
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7.
6.
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4.		Editor(s)
Anja Becker
Anja Becker
Anja Becker
Christoph Bock
Christoph Bock		Edit Dates
12.03.2010 11:38:01
03/17/2009 01:38:41 PM
03/17/2009 01:38:01 PM
03/09/2009 10:12:35 PM
03/09/2009 08:36:55 PM