Word Count: 1088

The Generation of Animal Diversity

Summary

Animal diversity can be explained in molecular terms through an understanding of

developmental processes. Homologous regulatory pathways are responsible for animal

development and patterning, and diversity is generated through changes to these pathways.

Modifying different elements and characteristics of complex regulatory networks affects

patterning throughout development and ultimately animal morphology.

Introduction

Animal diversity is affected by factors on both the micro and macro scale. Evolution is

driven by environmental forces acting as selective factors on phenotypic traits. Selection also

acts on variation in the genome, affecting alleles that correlate with these traits. Phenomena

including gene duplication and mutations have obvious implications for creation of variation

and, therefore, diversity in a population. However, the most important component of the

generation of animal diversity is the complex networks and processes that connect the variation

seen at these levels. Differences on the molecular scale lie within homologous regulatory

pathways and these pathways are the guiding forces behind the transformation of genotype into

phenotype in organism development (Gilbert, Opitz, and Raff, 1996; Stern, 2000; Hendrikse et

al., 2007; Carroll, 2008). There is still much to be learned about the molecular interactions

involved, however, the study of development seems to provide the necessary link between

molecular processes and large scale evolution.

Homologous Pathways
 The ability to regulate gene expression is possible through the interactions of regulatory

proteins with DNA. Homeotic genes are found across all animal species, encoding for

transcription factors and other regulatory proteins (Gilbert, Opitz, and Raff, 1996). During

development, morphogenetic fields are generated by presence of these regulators in gradients,

creating gene expression patterns (De Robertis, Morita, and Cho, 1991). Differential expression

of homeobox genes, and therefore differential action of transcription factors, throughout

development causes differences in target gene expression and are responsible for the

characteristics of patterning. As an integral part of developmental processes, these pathways and

the homologous regulatory elements within them are highly conserved. (McGinnis and

Krumlauf, 1992; Gilbert, Opitz, and Raff, 1996; De Robertis, 2008).

Diversity from Homology

The concept of homology existing at the core of diversity may appear to be a

contradiction. However, shifts that affect level of expression, expression patterns, and timing

allow for diversity to arise while maintaining the function of basic pathways necessary for

animal development. Variation can come about through many different changes in the genome,

including gene duplications and deletions and cis-regulatory mutations. Changes to regulatory

pathways on many different levels underlie shifts in animal morphology. Regulatory factors,

binding sites, and target genes make up complex networks through which changes may occur and

alter the outcome of the development process (De Robertis, 2008; Carroll, 2008).

A classic example of changes to these networks may be found in the manipulation of Hox

gene expression. Hox genes contain the homeobox domain, enabling the regulatory function of

the transcription factors they encode. Establishment of Hox gene fields allows for the formation

of segments in animal development. Therefore changes in where these fields overlap or when
Hox genes are expressed in development can change segmentation characteristics (McGinnis and

Krumlauf, 1992; De Robertis, 2008). In an experiment by Dubrulle, McGrew, and Pourqui

(2001), manipulations of FGF signaling affected Hox gene expression in mouse somites, altering

somite boundary formation in development. This change created variation in the pattern of

segment division in the mouse embryo.

Duplications can amplify the expression of genes or allow for divergent function or

regulation. Gene duplication forms new networks, enabling changes to occur in the gene

duplicates themselves as well as the factors that regulate them. One copy of the gene can remain

unchanged while the other acquires mutations that affect its function and expression. Regulatory

elements can also be divided between the copies and evolve with the duplicated genes to create

more complex and diverse developmental networks (De Robertis, 2008). For example, while

invertebrates have the ability to form basic segments through Hox gene expression, the

duplication of Hox genes in the mammalian lineage allowed for the formation of more complex

modular structures (Krumlauf, 1994; Amores et al., 1998). These homologous factors were able

to utilize the ancestral ability to create modularity and add complexity to regulatory networks to

form different morphogenetic fields and thus different structures in development.

Changes may also occur that affect cis-regulatory systems, such as enhancer regions. A

study of stickleback fish observed a divergence of spine formation through the mutation of an

enhancer of the Pitx-1 homeobox gene in some species of stickleback. The loss of function of

this enhancer region allowed for the morphological reduction of pelvic spines. While the gene

itself remained conserved, the mutation in one of its regulatory regions in one lineage affected

expression in development and resulted in the generation of morphological diversity (Chan et al.,

2010).
 Carroll (2000) describes several factors that allow cis-regulatory systems to contribute to

evolution. Cis-regulatory elements are organized so that they may evolve independently of one

another and may be located in varying distances and orientations relative to the genes they

regulate. Additionally, interrelated functions of regulatory factors allow for cis-regulatory sites to

evolve and compensate for one another without loss of function (Carroll, 2000). While changes

in cis-regulatory systems can account for large scale shifts in developmental patterning, these

factors allow for gradual shifts of expression along a gradient that create small divergences in

morphology. In the recently mentioned case of the stickleback fish, a mutation in the Pix1 gene

was found to be lethal. However, a change in cis-regulatory function allowed for variation to

arise in a viable individual, contributing to the generation of diversity (Chan et al., 2010).

Conclusion

Animal diversity may be understood in molecular terms first through elucidating the

characteristics of regulatory pathways and then through examining how these factors contribute

to divergence in morphology. All variation that is seen within species and between individuals

derived from preexisting genetic and developmental frameworks (De Robertis, 2008). Conserved

sequences underlie the patterning of all animal species and allow for core developmental

processes to remain functional. Studying changes in timing, pattern, and level of gene expression

within these pathways and their effects within developmental processes is how current research

aims to explain variation and evolution of animal morphology (Carroll, 2008). Recent studies are

now attempting to unravel how changes on the molecular level come about through

developmental processes and produce phenotypic characteristics, creating great potential for

expansion within the field of evolutionary biology. Science is beginning to come to the point

where fields converge, allowing for a greater picture the natural world to be conceptualized.
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