Brain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association
Alexi Nott(University of California San Diego), Inge R. Holtman(University Medical Center Groningen), Nicole G. Coufal(Salk Institute for Biological Studies), Johannes C. M. Schlachetzki(University of California San Diego), Miao Yu(Ludwig Cancer Research), Rong Hu(Ludwig Cancer Research), Claudia Z. Han(University of California San Diego), Monique Pena(Salk Institute for Biological Studies), Jiayang Xiao(Salk Institute for Biological Studies), Yin Wu(Salk Institute for Biological Studies), Zahara Keulen(Salk Institute for Biological Studies), Martina P. Pasillas(University of California San Diego), Carolyn O’Connor(Salk Institute for Biological Studies), Christian K. Nickl(University of California San Diego), Simon T. Schafer(Salk Institute for Biological Studies), Zeyang Shen(University of California San Diego), Robert A. Rissman(University of California San Diego), James B. Brewer(University of California San Diego), David Gosselin(University of California San Diego), David Gonda(University of California San Diego), Michael L. Levy(University of California San Diego), Michael G. Rosenfeld(Howard Hughes Medical Institute), Graham McVicker(Salk Institute for Biological Studies), Fred H. Gage(University Medical Center Groningen), Bing Ren(Salk Institute for Biological Studies), Christopher K. Glass(University of California San Diego)
Cited by 786Open Access
Abstract
Linking enhancers to disease Enhancers are genomic regions that regulate gene expression, sometimes in a cell-dependent manner. However, most of our knowledge of human brain cell–type enhancers derives from studies of bulk human brain tissue. Nott et al. examined chromatin and promoter activity in cell nuclei isolated from human brains. Genetic variants associated with brain traits and disease showed cell-specific patterns of enhancer enrichment. These data indicate that Alzheimer's disease is regulated by genetic variants within microglial cells, whereas psychiatric diseases tend to affect neurons. Science , this issue p. 1134
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