The evo-devo gene toolkit is the small subset of genes in an organism's genome whose products control the organism's embryonic development. Toolkit genes are central to the synthesis of molecular genetics, palaeontology, evolution and developmental biology in the science of evolutionary developmental biology (evo-devo). Many of them are ancient and highly conserved among animal phyla.
Toolkit genes are highly conserved among phyla, meaning that they are ancient, dating back to the last common ancestor of bilaterian animals. For example, that ancestor had at least 7 Pax genes for transcription factors. [1]
Differences in deployment of toolkit genes affect the body plan and the number, identity, and pattern of body parts. The majority of toolkit genes are components of signaling pathways and encode for the production of transcription factors, cell adhesion proteins, cell surface receptor proteins (and signalling ligands that bind to them), and secreted morphogens; all of these participate in defining the fate of undifferentiated cells, generating spatial and temporal patterns that, in turn, form the body plan of the organism. Among the most important of the toolkit genes are those of the Hox gene cluster, or complex. Hox genes, transcription factors containing the more broadly distributed homeobox protein-binding DNA motif, function in patterning the body axis. Thus, by combinatorially specifying the identity of particular body regions, Hox genes determine where limbs and other body segments will grow in a developing embryo or larva. A paradigmatic toolkit gene is Pax6/eyeless, which controls eye formation in all animals. It has been found to produce eyes in mice and Drosophila , even if mouse Pax6/eyeless was expressed in Drosophila. [2]
This means that a big part of the morphological evolution undergone by organisms is a product of variation in the genetic toolkit, either by the genes changing their expression pattern or acquiring new functions. A good example of the first is the enlargement of the beak in Darwin's large ground-finch (Geospiza magnirostris), in which the gene BMP is responsible for the larger beak of this bird, relative to the other finches. [3]
The loss of legs in snakes and other squamates is another good example of genes changing their expression pattern. In this case the gene Distal-less is very under-expressed, or not expressed at all, in the regions where limbs would form in other tetrapods. [4] In 1994, Sean B. Carroll's team made the groundbreaking discovery that this same gene determines the eyespot pattern in butterfly wings, showing that toolkit genes can change their function. [5] [6] [7]
Toolkit genes, as well as being highly conserved, also tend to evolve the same function convergently or in parallel. Classic examples of this are the already mentioned Distal-less gene, which is responsible for appendage formation in both tetrapods and insects, or, at a finer scale, the generation of wing patterns in the butterflies Heliconius erato and Heliconius melpomene . These butterflies are Müllerian mimics whose coloration pattern arose in different evolutionary events, but is controlled by the same genes. [8] This supports Marc Kirschner and John C. Gerhart's theory of Facilitated Variation, which states that morphological evolutionary novelty is generated by regulatory changes in various members of a large set of conserved mechanisms of development and physiology. [9]
Evolutionary developmental biology is a field of biological research that compares the developmental processes of different organisms to infer how developmental processes evolved.
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. Mutations in a homeobox may change large-scale anatomical features of the full-grown organism.
William McGinnis is an American molecular biologist who is a professor of biology at the University of California San Diego. At UC San Diego he has also served as the Chairman of the Department of Biology from July 1998 to June 1999, as Associate Dean of the Division of Natural Sciences from July 1, 1999 to June 2000, and as Interim Dean of the newly established Division of Biological Sciences from July 1, 2000 to February 1, 2001. McGinnis was appointed Dean of the Divisional Biological Sciences on July 1, 2013.
Hox genes, a subset of homeobox genes, are a group of related genes that specify regions of the body plan of an embryo along the head-tail axis of animals. Hox proteins encode and specify the characteristics of 'position', ensuring that the correct structures form in the correct places of the body. For example, Hox genes in insects specify which appendages form on a segment, and Hox genes in vertebrates specify the types and shape of vertebrae that will form. In segmented animals, Hox proteins thus confer segmental or positional identity, but do not form the actual segments themselves.
Antennapedia is a Hox gene first discovered in Drosophila which controls the formation of legs during development. Loss-of-function mutations in the regulatory region of this gene result in the development of the second leg pair into ectopic antennae. By contrast gain-of-function alleles convert antennae into ectopic legs.
In evolutionary developmental biology, Paired box (Pax) genes are a family of genes coding for tissue specific transcription factors containing an N-terminal paired domain and usually a partial, or in the case of four family members, a complete homeodomain to the C-terminus. An octapeptide as well as a Pro-Ser-Thr-rich C terminus may also be present. Pax proteins are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.
Heliconius comprises a colorful and widespread genus of brush-footed butterflies commonly known as the longwings or heliconians. This genus is distributed throughout the tropical and subtropical regions of the New World, from South America as far north as the southern United States. The larvae of these butterflies eat passion flower vines (Passifloraceae). Adults exhibit bright wing color patterns which signal their distastefulness to potential predators.
An eyespot is an eye-like marking. They are found in butterflies, reptiles, cats, birds and fish.
Pre-B-cell leukemia transcription factor 1 is a protein that in humans is encoded by the PBX1 gene. The homologous protein in Drosophila is known as extradenticle, and causes changes in embryonic development.
engrailed is a homeodomain transcription factor involved in many aspects of multicellular development. First known for its role in arthropod embryological development, working in consort with the Hox genes, engrailed has been found to be important in other areas of development. It has been identified in many bilaterians, including the arthropods, vertebrates, echinoderms, molluscs, nematodes, brachiopods, and polychaetes. It acts as a "selector" gene, conferring a specific identity to defined areas of the body, and co-ordinating the expression of downstream genes.
In evolutionary developmental biology, the concept of deep homology is used to describe cases where growth and differentiation processes are governed by genetic mechanisms that are homologous and deeply conserved across a wide range of species.
As understanding of the events of the Cambrian becomes clearer, data have accumulated to make some postulated causes for the Cambrian explosion look improbable. Some examples are the evolution of herbivory, vast changes in plate tectonic rates or orbital motion, or different evolutionary mechanisms in force.
Apposition eyes are the most common form of eye, and are presumably the ancestral form of compound eye. They are found in all arthropod groups, although they may have evolved more than once within this phylum. Some annelids and bivalves also have apposition eyes. They are also possessed by Limulus, the horseshoe crab, and there are suggestions that other chelicerates developed their simple eyes by reduction from a compound starting point. Some caterpillars appear to have evolved compound eyes from simple eyes in the opposite fashion.
Homeotic genes are genes which regulate the development of anatomical structures in various organisms such as echinoderms, insects, mammals, and plants. Homeotic genes often encode transcription factor proteins, and these proteins affect development by regulating downstream gene networks involved in body patterning.
Homeotic selector genes confer segment identity in Drosophila. They encode homeodomain proteins which interact with Hox and other homeotic genes to initiate segment-specific gene regulation. Homeodomain proteins are transcription factors that share a DNA-binding domain called the homeodomain. Changes in the expression and function of homeotic genes are responsible for the changes in the morphology of the limbs of arthropods as well as in the axial skeletons of vertebrates. Mutations in homeotic selector genes do not lead to elimination of a segment or pattern, but instead cause the segment to develop incorrectly.
Endless Forms Most Beautiful: The New Science of Evo Devo and the Making of the Animal Kingdom is a 2005 book by the molecular biologist Sean B. Carroll. It presents a summary of the emerging field of evolutionary developmental biology and the role of toolkit genes. It has won numerous awards for science communication.
Michael Levine is an American developmental and cell biologist at Princeton University, where he is the Director of the Lewis-Sigler Institute for Integrative Genomics and a Professor of Molecular Biology.
Hox genes play a massive role in some amphibians and reptiles in their ability to regenerate lost limbs, especially HoxA and HoxD genes.
Abdominal pigmentation in Drosophila melanogaster is a morphologically simple but highly variable trait that often has adaptive significance. Pigmentation has extensively been studied in Drosophila melanogaster. It has been used as a model for understanding the development and evolution of morphological phenotypes.