title: Widespread monoallelic expression on human autosomes.
abstract: Monoallelic expression with random choice between the maternal and paternal alleles defines an unusual class of genes comprising X-inactivated genes and a few autosomal gene families. Using a genome-wide approach, we assessed allele-specific transcription of about 4000 human genes in clonal cell lines and found that more than 300 were subject to random monoallelic expression. For a majority of monoallelic genes, we also observed some clonal lines displaying biallelic expression. Clonal cell lines reflect an independent choice to express the maternal, the paternal, or both alleles for each of these genes. This can lead to differences in expressed protein sequence and to differences in levels of gene expression. Unexpectedly widespread monoallelic expression suggests a mechanism that generates diversity in individual cells and their clonal descendants.
authors.affiliation: Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Simches Research Building, 185 Cambridge Street, Boston, MA 02114, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gimelbrant
authors.forename: John N
authors.initials: JN
authors.lastname: Hutchinson
authors.forename: Benjamin R
authors.initials: BR
authors.lastname: Thompson
authors.forename: Andrew
authors.initials: A
authors.lastname: Chess
mesh_terms: D000483:Alleles; D000818:Animals; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D017871:Calcium-Calmodulin-Dependent Protein Kinases / Q000235:genetics; D002460:Cell Line; D002999:Clone Cells; D004268:DNA-Binding Proteins / Q000235:genetics; D064550:Death-Associated Protein Kinases; D004303:Dosage Compensation, Genetic; D005260:Female; D015870:Gene Expression; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D015534:Trans-Activators / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; C081976:EBF1 protein, human; D015534:Trans-Activators; D064550:Death-Associated Protein Kinases; D017871:Calcium-Calmodulin-Dependent Protein Kinases