近日，中国农业科学院深圳农业基因组研究所程时锋团队等报道了孟德尔豌豆基因的基因组和遗传学研究。相关论文于2025年4月23日发表在《自然》杂志上。

在这里，研究团队研究了这些性状背后的遗传结构，并发现了先前未描述的孟德尔基因的等位基因，包括孟德尔白花等位基因a的罕见回显基因。首先，该团队将重点放在剩余的三个未表征的性状上，并发现：(1)叶绿素合成酶（ChlG）基因上游约100kb的基因组缺失通过产生基因间转录fthemion产物破坏叶绿素的生物合成，赋予gp突变体黄荚型表型；(2)具有上游Ogre元件插入的MYB基因和具有框架内过早停止密码子的CLE肽编码基因解释了v和p等位基因，它们破坏了次生细胞壁增厚和木质化，导致无羊膜、可食用荚果表型；(3) CIK样共受体激酶基因的5-bp外显子缺失，与基因修饰位点结合，与相关茎（fa）表型相关。

此外，课题组表征了与多种农艺性状相关的基因和等位基因，如腋环花青素色素沉着，种子大小和“半无叶”形式。本研究为基础研究、生物学和遗传学教育以及豌豆育种实践奠定了基础。

研究人员表示，Mendel详细研究了豌豆（Pisum sativum）的7对对比性状，建立了遗传的基本原理。

附：英文原文

Title: Genomic and genetic insights into Mendel’s pea genes

Author: Feng, Cong, Chen, Baizhi, Hofer, Julie, Shi, Yan, Jiang, Mei, Song, Bo, Cheng, Hong, Lu, Lu, Wang, Luyao, Howard, Alex, Bendahmane, Abdel, Fouchal, Anissa, Moreau, Carol, Sawada, Chie, LeSignor, Christine, Zhang, Cuijun, Vikeli, Eleni, Tsanakas, Georgios, Zhao, Hang, Cheema, Jitender, Barclay, J. Elaine, Hou, Junliang, Sayers, Liz, Wingen, Luzie, Vigouroux, Marielle, Vickers, Martin, Ambrose, Mike, Dalmais, Marion, Higuera-Poveda, Paola, Li, Pengfeng, Yuan, Quan, Spanner, Rebecca, Horler, Richard, Wouters, Roland, Chundakkad, Smitha, Wu, Tian, Zhao, Xiaoxiao, Li, Xiuli, Sun, Yuchen, Huang, Zejian, Wu, Zhen, Deng, Xing Wang, Steuernagel, Burkhard, Domoney, Claire, Ellis, Noel, Chayut, Noam, Cheng, Shifeng

Issue&Volume: 2025-04-23

Abstract: Mendel1 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 genes2,3,4,5,6,7, 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.

DOI: 10.1038/s41586-025-08891-6

Source: https://www.nature.com/articles/s41586-025-08891-6