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Mendel did not study common, naturally occurring phenotypes
Journal of Genetics ( IF 1.5 ) Pub Date : 2023-09-20 , DOI: 10.1007/s12041-023-01446-6
David Curtis

Modern genetics research increasingly reveals that what is commonly termed Mendelian genetics occurs rarely in nature, especially with regard to the effects that genetic variation exerts on human characteristics. It has been argued that an inappropriate emphasis on Mendel’s work could distort the public understanding of genetics and indeed in the UK Mendel has been completely dropped from the official school syllabus. There is a widespread misunderstanding that Mendel studied common phenotypes such as height and colour in individual pea plants. In fact, he studied a handful of specially selected phenotypes which he observed to be always dichotomous in 22 specially bred varieties of pea and studied crosses between individuals from these different varieties. This approach enabled him to study a small number of phenotypes which did in fact exhibit truly Mendelian transmission. Modern molecular genetic studies have now demonstrated that these phenotypes result from loss of function variants which result in markedly reduced activity of specific proteins and which hence have recessive effects. Understanding that Mendel studied the effects of loss of function mutations in crosses between artificially bred varieties, rather than naturally occurring variation in a population, could allow his work to continue to be taught as part of a modern genetics curriculum.



中文翻译:

孟德尔没有研究常见的、自然发生的表型

现代遗传学研究越来越多地表明,通常所说的孟德尔遗传学在自然界中很少发生,特别是在遗传变异对人类特征的影响方面。有人认为,对孟德尔工作的不恰当强调可能会扭曲公众对遗传学的理解,事实上,在英国,孟德尔已经从官方学校课程大纲中完全删除。人们普遍误解孟德尔研究了豌豆个体的常见表型,例如高度和颜色。事实上,他研究了一些特别选择的表型,他观察到这些表型在 22 个专门培育的豌豆品种中总是二分的,并研究了这些不同品种个体之间的杂交。这种方法使他能够研究少数表型,这些表型实际上表现出真正的孟德尔传播。现代分子遗传学研究现已证明,这些表型是由于功能变异的丧失造成的,这些变异导致特定蛋白质的活性显着降低,因此具有隐性效应。了解孟德尔研究的是人工培育品种之间杂交中功能丧失突变的影响,而不是群体中自然发生的变异,这可能会让他的工作继续作为现代遗传学课程的一部分进行教授。

更新日期:2023-09-20
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