Burden tests can be used to map causal genes for a simple metabolic trait in an exome-sequenced polyploid mutant population

A - Papers appearing in refereed journals

Menard, G. N. and Eastmond, P. J. 2022. Burden tests can be used to map causal genes for a simple metabolic trait in an exome-sequenced polyploid mutant population. Plant Biotechnology Journal. 20 (10), pp. 1850-1852. https://doi.org/10.1111/pbi.13890

AuthorsMenard, G. N. and Eastmond, P. J.

Forward genetic screens are an excellent tool to assign gene function, but it is often necessary to employ map-based cloning to identify the causal genes. This can be laborious and represents a bottleneck in plant fundamental and applied research. With advances in DNA technology, it is becoming increasingly affordable to sequence large populations. Krasileva et al. (2017) exome sequenced tetraploid and hexaploid wheat ethyl methanesulfonate (EMS) mutagenized populations, primarily to facilitate reverse genetic screens. Gene redundancy allows a very high mutant load of 35–40 mutations per kilobase, and the populations of ~1500 and ~1200 lines each harbour ~22–23 missense or truncation mutations per gene. Here, we show that burden tests, a simple form of rare-variant association analysis developed for human disease genetics (Lee et al., 2014), can be used to identify causal genes in the hexaploid wheat (Triticum aestivum) cv. Cadenza mutant population, without the need for map-based cloning.

KeywordsBurden test; Wheat; Rare-variant association analysis; Mutant population
Year of Publication2022
JournalPlant Biotechnology Journal
Journal citation20 (10), pp. 1850-1852
Digital Object Identifier (DOI)https://doi.org/10.1111/pbi.13890
PubMed ID35810345
Web address (URL)https://onlinelibrary.wiley.com/doi/10.1111/pbi.13890
Open accessPublished as ‘gold’ (paid) open access
FunderBiotechnology and Biological Sciences Research Council
Funder project or codeTailoring Plant Metabolism ISP
Publisher's version
Output statusPublished
Publication dates
Online10 Jul 2022
Publication process dates
Accepted30 Jun 2022

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