Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär medicin. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
Vise andre og tillknytning
2014 (engelsk)Inngår i: Molecular Systems Biology, ISSN 1744-4292, E-ISSN 1744-4292, Vol. 10, nr 10, s. 754-Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Most complex disease-associated genetic variants are located in non-coding regions and are therefore thought to be regulatory in nature. Association mapping of differential allelic expression (AE) is a powerful method to identify SNPs with direct cis-regulatory impact (cis-rSNPs). We used AE mapping to identify cis-rSNPs regulating gene expression in 55 and 63 HapMap lymphoblastoid cell lines from a Caucasian and an African population, respectively, 70 fibroblast cell lines, and 188 purified monocyte samples and found 40-60% of these cis-rSNPs to be shared across cell types. We uncover a new class of cis-rSNPs, which disrupt footprint-derived de novo motifs that are predominantly bound by repressive factors and are implicated in disease susceptibility through overlaps with GWAS SNPs. Finally, we provide the proof-of-principle for a new approach for genome-wide functional validation of transcription factor-SNP interactions. By perturbing NFκB action in lymphoblasts, we identified 489 cis-regulated transcripts with altered AE after NFκB perturbation. Altogether, we perform a comprehensive analysis of cis-variation in four cell populations and provide new tools for the identification of functional variants associated to complex diseases.

sted, utgiver, år, opplag, sider
2014. Vol. 10, nr 10, s. 754-
HSV kategori
Identifikatorer
URN: urn:nbn:se:uu:diva-234588DOI: 10.15252/msb.20145114ISI: 000344595300005PubMedID: 25326100OAI: oai:DiVA.org:uu-234588DiVA, id: diva2:757203
Tilgjengelig fra: 2014-10-21 Laget: 2014-10-21 Sist oppdatert: 2018-01-11bibliografisk kontrollert

Open Access i DiVA

fulltext(1851 kB)162 nedlastinger
Filinformasjon
Fil FULLTEXT01.pdfFilstørrelse 1851 kBChecksum SHA-512
6426d8e38176897973fd13b5a8f99be7aa432a3ae39f583c1cbf440f6da1eb55549ae96343c1b8d07812d27998caee62193e9effcfd0c7734765267a0dbd5547
Type fulltextMimetype application/pdf

Andre lenker

Forlagets fulltekstPubMed

Søk i DiVA

Av forfatter/redaktør
Carlsson Almlöf, JonasLundmark, PerRönnblom, LarsSyvänen, Ann-Christine
Av organisasjonen
I samme tidsskrift
Molecular Systems Biology

Søk utenfor DiVA

GoogleGoogle Scholar
Totalt: 162 nedlastinger
Antall nedlastinger er summen av alle nedlastinger av alle fulltekster. Det kan for eksempel være tidligere versjoner som er ikke lenger tilgjengelige

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 723 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf