What is a phenotype? History and new developments of the concept

Genetica. 2022 Aug;150(3-4):153-158. doi: 10.1007/s10709-021-00134-6. Epub 2021 Nov 5.

Abstract

Even though the word "phenotype", as well as the expression "genotype-phenotype relationship", are a part of the everyday language of biologists, they remain abstract notions that are sometimes misunderstood or misused. In this article, I begin with a review of the genesis of the concept of phenotype and of the meaning of the genotype-phenotype "relationship" from a historical perspective. I then illustrate how the development of new approaches for exploring the living world has enabled us to phenotype organisms at multiple levels, with traits that can either be measures or parameters of functions, leading to a virtually unlimited amount of phenotypic data. Thus, pleiotropy becomes a central issue in the study of the genotype-phenotype relationship. Finally, I provide a few examples showing that important genetic and evolutionary features clearly differ with the phenotypic level considered. The way genotypic variation propagates across the phenotypic levels to shape fitness variation is an essential research program in biology.

Keywords: Genotype–phenotype relationship; History of genetics; Phenotypic level; Pleiotropy.

Publication types

  • Editorial
  • Review

MeSH terms

  • Biological Evolution*
  • Genotype
  • Phenotype