Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Regulatory genomics of human embryonic pancreatic progenitors

ABSTRACT: Active regulatory regions in the human embryonic pancreatic progenitors were profiled by integration of transcription factor and histone modification ChIP-seq datasets. These were obtained from pancreatic progenitor cells derived in vitro from human embryonic stem cells. The purpose of this work was to study the epigenomic mechanisms involved in pancreas development.

INSTRUMENT(S): Illumina HiSeq 2000

ORGANISM(S): Homo sapiens

SUBMITTER: Jorge Ferrer

PROVIDER: E-MTAB-1990 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Weedon Michael N MN Cebola Ines I Patch Ann-Marie AM Flanagan Sarah E SE De Franco Elisa E Caswell Richard R Rodríguez-Seguí Santiago A SA Shaw-Smith Charles C Cho Candy H-H CH Allen Hana Lango HL Houghton Jayne Al JA Roth Christian L CL Chen Rongrong R Hussain Khalid K Marsh Phil P Vallier Ludovic L Murray Anna A Ellard Sian S Ferrer Jorge J Hattersley Andrew T AT

Nature genetics 20131110 1

The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutat ...[more]

PMID: 24212882

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Dataset Information

Regulatory genomics of human embryonic pancreatic progenitors

Publications

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

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