Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.

Phenotypic differences between individuals of a species are often caused by differences in gene expression, which are in turn caused by genetic variation. Expression quantitative trait locus (eQTL) analysis is a methodology by which we can identify such causal variants. Scaling eQTL analysis is cost...

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Main Authors: Matthew T Parker, Samija Amar, José A Campoy, Kristin Krause, Sergio Tusso, Magdalena Marek, Bruno Huettel, Korbinian Schneeberger
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-04-01
Series:PLoS Biology
Online Access:https://doi.org/10.1371/journal.pbio.3003085
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author Matthew T Parker
Samija Amar
José A Campoy
Kristin Krause
Sergio Tusso
Magdalena Marek
Bruno Huettel
Korbinian Schneeberger
author_facet Matthew T Parker
Samija Amar
José A Campoy
Kristin Krause
Sergio Tusso
Magdalena Marek
Bruno Huettel
Korbinian Schneeberger
author_sort Matthew T Parker
collection DOAJ
description Phenotypic differences between individuals of a species are often caused by differences in gene expression, which are in turn caused by genetic variation. Expression quantitative trait locus (eQTL) analysis is a methodology by which we can identify such causal variants. Scaling eQTL analysis is costly due to the expense of generating mapping populations, and the collection of matched transcriptomic and genomic information. We developed a rapid eQTL analysis approach using single-cell/nucleus RNA sequencing of gametes from a small number of heterozygous individuals. Patterns of inherited polymorphisms are used to infer the recombinant genomes of thousands of individual gametes and identify how different haplotypes correlate with variation in gene expression. Applied to Arabidopsis pollen nuclei, our approach uncovers both cis- and trans-eQTLs, ultimately mapping variation in a master regulator of sperm cell development that affects the expression of hundreds of genes. This establishes snRNA-sequencing as a powerful, cost-effective method for the mapping of meiotic recombination, addressing the scalability challenges of eQTL analysis and enabling eQTL mapping in specific cell-types.
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institution Kabale University
issn 1544-9173
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language English
publishDate 2025-04-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS Biology
spelling doaj-art-f87b6e9dcc0d4dfba8e1edabb4fe458e2025-08-20T03:25:20ZengPublic Library of Science (PLoS)PLoS Biology1544-91731545-78852025-04-01234e300308510.1371/journal.pbio.3003085Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.Matthew T ParkerSamija AmarJosé A CampoyKristin KrauseSergio TussoMagdalena MarekBruno HuettelKorbinian SchneebergerPhenotypic differences between individuals of a species are often caused by differences in gene expression, which are in turn caused by genetic variation. Expression quantitative trait locus (eQTL) analysis is a methodology by which we can identify such causal variants. Scaling eQTL analysis is costly due to the expense of generating mapping populations, and the collection of matched transcriptomic and genomic information. We developed a rapid eQTL analysis approach using single-cell/nucleus RNA sequencing of gametes from a small number of heterozygous individuals. Patterns of inherited polymorphisms are used to infer the recombinant genomes of thousands of individual gametes and identify how different haplotypes correlate with variation in gene expression. Applied to Arabidopsis pollen nuclei, our approach uncovers both cis- and trans-eQTLs, ultimately mapping variation in a master regulator of sperm cell development that affects the expression of hundreds of genes. This establishes snRNA-sequencing as a powerful, cost-effective method for the mapping of meiotic recombination, addressing the scalability challenges of eQTL analysis and enabling eQTL mapping in specific cell-types.https://doi.org/10.1371/journal.pbio.3003085
spellingShingle Matthew T Parker
Samija Amar
José A Campoy
Kristin Krause
Sergio Tusso
Magdalena Marek
Bruno Huettel
Korbinian Schneeberger
Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
PLoS Biology
title Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
title_full Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
title_fullStr Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
title_full_unstemmed Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
title_short Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.
title_sort scalable eqtl mapping using single nucleus rna sequencing of recombined gametes from a small number of individuals
url https://doi.org/10.1371/journal.pbio.3003085
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