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孟德尔:从基因到基因组。

Mendel: From genes to genome.

机构信息

Discipline of Biological Sciences, School of Natural Sciences, University of Tasmania, Sandy Bay, Tasmania 7005, Australia.

出版信息

Plant Physiol. 2022 Nov 28;190(4):2103-2114. doi: 10.1093/plphys/kiac424.

Abstract

Two hundred years after the birth of Gregor Mendel, it is an appropriate time to reflect on recent developments in the discipline of genetics, particularly advances relating to the prescient friar's model species, the garden pea (Pisum sativum L.). Mendel's study of seven characteristics established the laws of segregation and independent assortment. The genes underlying four of Mendel's loci (A, LE, I, and R) have been characterized at the molecular level for over a decade. However, the three remaining genes, influencing pod color (GP), pod form (V/P), and the position of flowers (FA/FAS), have remained elusive for a variety of reasons, including a lack of detail regarding the loci with which Mendel worked. Here, we discuss potential candidate genes for these characteristics, in light of recent advances in the genetic resources for pea. These advances, including the pea genome sequence and reverse-genetics techniques, have revitalized pea as an excellent model species for physiological-genetic studies. We also discuss the issues that have been raised with Mendel's results, such as the recent controversy regarding the discrete nature of the characters that Mendel chose and the perceived overly-good fit of his segregations to his hypotheses. We also consider the relevance of these controversies to his lasting contribution. Finally, we discuss the use of Mendel's classical results to teach and enthuse future generations of geneticists, not only regarding the core principles of the discipline, but also its history and the role of hypothesis testing.

摘要

孟德尔诞辰 200 年后,是时候反思遗传学领域的最新进展了,特别是与这位有先见之明的修士的模式物种——豌豆(Pisum sativum L.)相关的进展。孟德尔对 7 种特征的研究确立了分离和独立分配的规律。十多年来,孟德尔的 4 个基因座(A、LE、I 和 R)的基因已经在分子水平上得到了描述。然而,由于各种原因,其余的 3 个基因(影响豆荚颜色(GP)、豆荚形状(V/P)和花的位置(FA/FAS))仍然难以捉摸,包括孟德尔研究的基因座的细节缺乏。在这里,我们根据豌豆遗传资源的最新进展,讨论这些特征的潜在候选基因。这些进展,包括豌豆基因组序列和反向遗传学技术,使豌豆重新成为生理遗传研究的优秀模式物种。我们还讨论了与孟德尔的结果有关的问题,例如最近关于孟德尔选择的特征的离散性质的争议,以及他的分离与他的假设之间的良好契合度的看法。我们还考虑了这些争议对他持久贡献的相关性。最后,我们讨论了利用孟德尔的经典结果来教授和激发未来几代遗传学家的兴趣,不仅涉及学科的核心原则,还涉及学科的历史和假设检验的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d85c/9706470/384cdfb523d2/kiac424f1.jpg

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