Allele-specific and heritable chromatin signatures in humans.
Next-generation sequencing-based assays to detect gene regulatory elements are enabling the analysis of individual-to-individual and allele-specific variation of chromatin status and transcription factor binding in humans. Recently, a number of studies have explored this area, using lymphoblastoid cell lines. Around 10% of chromatin sites show either individual-level differences or allele-specific behavior. Future studies are likely to be limited by cell line accessibility, meaning that white-bloodcell-based studies are likely to continue to be the main source of samples. A detailed understanding of the relationship between normal genetic variation and chromatin variation can shed light on how polymorphisms in non-coding regions in the human genome might underlie phenotypic variation and disease.
Birney
Ewan
E
European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. birney@ebi.ac.uk
Lieb
Jason D
JD
Furey
Terrence S
TS
Crawford
Gregory E
GE
Iyer
Vishwanath R
VR
D000483:Alleles; D002843:Chromatin / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans
D002843:Chromatin