ArticleNature genetics2016
Genes with monoallelic expression contribute disproportionately to genetic diversity in humans.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders.Molecular psychiatry · 2017Pooled it
- Autosomal allelic inactivation at loci with variable replication timing and dosage sensitivity.eLife · 2026Article
- LongAllele: a joint inference framework for allele-specific analysis on long-read bulk and single-cell RNA sequencing.bioRxiv : the preprint server for biology · 2026Article
- Maternal histone methyltransferases antagonistically regulate autosomal random monoallelic expression (aRMAE) in C. elegans.Nature communications · 2025Article
- Stochastic Epigenetic Modification and Evolution of Sex Determination in Vertebrates.Journal of molecular evolution · 2024Article
- Characterization of a new mouse line triggering transient oligodendrocyte progenitor depletion.Scientific reports · 2023Article
- The transcriptional legacy of developmental stochasticity.Nature communications · 2023Article
- DNA methylation entropy is associated with DNA sequence features and developmental epigenetic divergence.Nucleic acids research · 2023Article
- Inferring Balancing Selection From Genome-Scale Data.Genome biology and evolution · 2023Review
- Random allelic expression in the adult human body.Cell reports · 2023Article
- Analysis of 1276 Haplotype-Resolved Genomes Allows Characterization of Cis- and Trans-Abundant Genes.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Epigenetic control of chromosome-associated lncRNA genes essential for replication and stability.Nature communications · 2022Article
- Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.Pediatric pulmonology · 2022Article
- RNA sequencing-based screen for reactivation of silenced alleles of autosomal genes.G3 (Bethesda, Md.) · 2022Article
- Article
- Introns control stochastic allele expression bias.Nature communications · 2021Article
- Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase.Genome biology · 2021Article
- A Comprehensive Characterization of Monoallelic Expression During Hematopoiesis and LeukemogenesisFrontiers in cell and developmental biology · 2021Article
- X-Chromosome Inactivation and Autosomal Random Monoallelic Expression as "Faux Amis".Frontiers in cell and developmental biology · 2021Review
- Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions.European journal of human genetics : EJHG · 2020Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
An unexpectedly large number of human autosomal genes are subject to monoallelic expression (MAE). Our analysis of 4,227 such genes uncovers surprisingly high genetic variation across human populations. This increased diversity is unlikely to reflect relaxed purifying selection. Remarkably, MAE genes exhibit an elevated recombination rate and an increased density of hypermutable sequence contexts. However, these factors do not fully account for the increased diversity. We find that the elevated nucleotide diversity of MAE genes is also associated with greater allelic age: variants in these genes tend to be older and are enriched in polymorphisms shared by Neanderthals and chimpanzees. Both synonymous and nonsynonymous alleles of MAE genes have elevated average population frequencies. We also observed strong enrichment of the MAE signature among genes reported to evolve under balancing selection. We propose that an important biological function of widespread MAE might be the generation of cell-to-cell heterogeneity; the increased genetic variation contributes to this heterogeneity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.