Genomic and genetic insights into Mendel’s pea genes

Mendel<sup>1</sup> studied in detail seven pairs of contrasting traits in pea (Pisum sativum), establishing the foundational principles of genetic inheritance. Here we investigate the genetic architecture that underlies these traits and uncover previously undescribed alleles for the four characterized Mendelian genes<sup>2-7</sup>, including a rare revertant of Mendel's white-flowered a allele. Primarily, we focus on the three remaining uncharacterized traits and find that (1) an approximately 100-kb genomic deletion upstream of the Chlorophyll synthase (ChlG) gene disrupts chlorophyll biosynthesis through the generation of intergenic transcriptional fusion products, conferring the yellow pod phenotype of gp mutants; (2) a MYB gene with an upstream Ogre element insertion and a CLE peptide-encoding gene with an in-frame premature stop codon explain the v and p alleles, which disrupt secondary cell wall thickening and lignification, resulting in the parchmentless, edible-pod phenotype; and (3) a 5-bp exonic deletion in a CIK-like co-receptor kinase gene, in combination with a genetic modifier locus, is associated with the fasciated stem (fa) phenotype. Furthermore, we characterize genes and alleles associated with diverse agronomic traits, such as axil ring anthocyanin pigmentation, seed size and the 'semi-leafless' form. This study establishes a foundation for fundamental research, education in biology and genetics, and pea breeding practices.

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Publication Details

Journal
Nature
Published
2025-04-23
DOI
https://doi.org/10.1038/s41586-025-08891-6
Citations
27
Primary Topic
Genetic and Environmental Crop Studies
Type
article
Field-Weighted Citation Impact
47.24
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Genomic and genetic insights into Mendel’s pea genes

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Genomic and genetic insights into Mendel’s pea genes

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article en
27 citations

Abstract

Mendel<sup>1</sup> studied in detail seven pairs of contrasting traits in pea (Pisum sativum), establishing the foundational principles of genetic inheritance. Here we investigate the genetic architecture that underlies these traits and uncover previously undescribed alleles for the four characterized Mendelian genes<sup>2-7</sup>, including a rare revertant of Mendel's white-flowered a allele. Primarily, we focus on the three remaining uncharacterized traits and find that (1) an approximately 100-kb genomic deletion upstream of the Chlorophyll synthase (ChlG) gene disrupts chlorophyll biosynthesis through the generation of intergenic transcriptional fusion products, conferring the yellow pod phenotype of gp mutants; (2) a MYB gene with an upstream Ogre element insertion and a CLE peptide-encoding gene with an in-frame premature stop codon explain the v and p alleles, which disrupt secondary cell wall thickening and lignification, resulting in the parchmentless, edible-pod phenotype; and (3) a 5-bp exonic deletion in a CIK-like co-receptor kinase gene, in combination with a genetic modifier locus, is associated with the fasciated stem (fa) phenotype. Furthermore, we characterize genes and alleles associated with diverse agronomic traits, such as axil ring anthocyanin pigmentation, seed size and the 'semi-leafless' form. This study establishes a foundation for fundamental research, education in biology and genetics, and pea breeding practices.

NatureVol. 642(8069)
John Innes Centre (GB), University of Minnesota (US), European Bioinformatics Institute (GB), Norwich Research Park (GB), Agricultural Genomics Institute at Shenzhen (CN), Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR), Institut des Sciences des Plantes de Paris Saclay (FR), Agroécologie (FR), Institut Agro Dijon (FR), Génétique, Diversité, Écophysiologie des Céréales (FR), Chinese Academy of Agricultural Sciences (CN), Ministry of Agriculture and Rural Affairs (CN), Center for Life Sciences (CN)
Zero hunger
Openalex Percentile: Top 0%
Genetic and Environmental Crop Studies
47.24
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