ArticleeLife2021
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.
Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.Nature communications · 2026Article
- Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq.Nature genetics · 2025Article
- Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage.Cell genomics · 2025Article
- Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage.bioRxiv : the preprint server for biology · 2024Article
- Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.Current issues in molecular biology · 2024Article
- Multifaceted effects on even-skipped transcriptional dynamics upon Krüppel dosage changes.Development (Cambridge, England) · 2024Article
- Co-fractionation-mass spectrometry to characterize native mitochondrial protein assemblies in mammalian neurons and brain.Nature protocols · 2023Article
- Article
- Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.Nature genetics · 2023Article
- Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv : the preprint server for health sciences · 2023Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Most age-related human diseases are accompanied by a decline in cellular organelle integrity, including impaired lysosomal proteostasis and defective mitochondrial oxidative phosphorylation. An open question, however, is the degree to which inherited variation in or near genes encoding each organelle contributes to age-related disease pathogenesis. Here, we evaluate if genetic loci encoding organelle proteomes confer greater-than-expected age-related disease risk. As mitochondrial dysfunction is a 'hallmark' of aging, we begin by assessing nuclear and mitochondrial DNA loci near genes encoding the mitochondrial proteome and surprisingly observe a lack of enrichment across 24 age-related traits. Within nine other organelles, we find no enrichment with one exception: the nucleus, where enrichment emanates from nuclear transcription factors. In agreement, we find that genes encoding several organelles tend to be 'haplosufficient,' while we observe strong purifying selection against heterozygous protein-truncating variants impacting the nucleus. Our work identifies common variation near transcription factors as having outsize influence on age-related trait risk, motivating future efforts to determine if and how this inherited variation then contributes to observed age-related organelle deterioration.
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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.