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Titel:

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Spieler, Derek; Kaffe, Maria; Knauf, Franziska; Bessa, José; Tena, Juan J; Giesert, Florian; Schormair, Barbara; Tilch, Erik; Lee, Heekyoung; Horsch, Marion; Czamara, Darina; Karbalai, Nazanin; von Toerne, Christine; Waldenberger, Melanie; Gieger, Christian; Lichtner, Peter; Claussnitzer, Melina; Naumann, Ronald; Müller-Myhsok, Bertram; Torres, Miguel; Garrett, Lillian; Rozman, Jan; Klingenspor, Martin; Gailus-Durner, Valerie; Fuchs, Helmut; Hrab? de Angelis, Martin; Beckers, Johannes; Hölter, S...     »
Abstract:
Genome-wide association studies (GWAS) identified the MEIS1 locus for Restless Legs Syndrome (RLS), but causal single nucleotide polymorphisms (SNPs) and their functional relevance remain unknown. This locus contains a large number of highly conserved noncoding regions (HCNRs) potentially functioning as cis-regulatory modules. We analyzed these HCNRs for allele-dependent enhancer activity in zebrafish and mice and found that the risk allele of the lead SNP rs12469063 reduces enhancer activity in...     »
Zeitschriftentitel:
Genome Res
Jahr:
2014
Band / Volume:
24
Heft / Issue:
4
Seitenangaben Beitrag:
592-603
Sprache:
eng
Volltext / DOI:
doi:10.1101/gr.166751.113
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/24642863
Print-ISSN:
1088-9051
TUM Einrichtung:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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