martes, 16 de diciembre de 2014

Homology: what is is and how we can possibly infer it

On the different concepts of homology

Homology is a central concept in biology, and it refers to the correspondence of morphological or molecular attributes due to common ancestry. It is generally useful to sort and evaluate relationships among organisms (Pinna 1991)⁠, depending on the field of study (Brigandt 2003)⁠. In comparative biology, it allows for effective descriptions across species and unified morphological knowledge, which provides comparisons that could be finely used for classifications. In other branches of biology such as evolutionary biology and phylogenetic systematics, it serves to explain the adaptive modifications of characters and to characterize taxa, respectively (Brigandt 2003)⁠. Given its diverse extents, there is also a set of criteria to infer it, among them, the similarity in molecular, structural detail and histology, the connectivity to adjacent structures, correspondence of the developmental origin (Patterson 1982; Patterson 1988)⁠ , and step-counting.

Regarding the concepts of homology, (De Pinna 1991)⁠ made a distinction between “primary” and “secondary” homology, treating the first as an untested supposition that two parts are equivalent by inheritance -definition that (Agnarsson & Coddington 2007)⁠ pondered as the prior of a logical analysis or the background knowledge that is not concerned to morphological data- , and the second as the hypothesis that has passed the congruence test and thus can be treated as a synapomorphy. A large discussion has been taken upon this latter concept, as for authors like (De Queiroz 1985)⁠ it does not equal homology, for he argued that homology applies to instantaneous morphologies, while synapomorphy applies to ontogenetic transformations that characterize monophyletic groups. On the other hand, like (Eldredge, N, Cracraft 1980)⁠, like (De Pinna 1991)⁠, considered these concepts as a single one. However, (Patterson 1982)⁠ and (Rieppel 1980)⁠ assigned a certain hierarchical organization of homologies, distinguishing between taxic (the feature of a monophyletic group) and transformational (the change of a structure into another) homology. Taking this into context, the radula of molluscs or the radular teeth constitute a taxic homology, and the classic example of the incus and the quadrate are a transformational homology (Zelditch M.L., Fink W.L. 1995)⁠.

Patterson's Test


A main question that can be asked is how do we recognize a character as homologous? One of the most outstanding processes was proposed by Patterson (Patterson 1982)⁠, and it is an evaluation that compresses three tests that a character needs to pass to be considered as an homology in a phylogenetic analysis. These tests are: similarity, which refers to the resemblance between structures that could share a common ancestor and thus it is a first “candidate” of homology; conjunction which evaluates that two different states of a character can not be present within the same organism (angels are definitely not an useful species to be included in an analysis using this test); and congruence that is the final test that shows whether a character most probably represents an homology.

Choosing criteria of evaluation

A question that arises when it comes to the evaluation of homology is what test or what methodology to use. In theory, parsimony or other criteria, could guide choice among competing homology hypotheses before assessing their fit to a tree (Agnarsson & Coddington 2007)⁠. Testing the fit of data to trees using various optimality criteria has been widely studied. However, the evaluation of the initial criteria of similarity in the formation of homology hypotheses, such as whether two structures should be considered homologous, remains a key point of attention. The authors proposed an index to make this initial assessment, weighting topology, function and similarity equally, so that multiple points of comparison within each criterion allow them to be averaged or down-weighted. Thence it took each criterion into a comparable unit.

Although morphological data present several points of special attention (Patterson 1982)⁠, molecular data is a powerful source that definitely has to be carefully analyzed. Mainly because it passes through a test of similarity that could render wrong assumptions and results. Taking into account that homologous sequences can be orthologous -as divergent from a common ancestor- or paralogous -as product of gene duplication-, as well as other mechanisms or variations -like xenology- (Fitch 2000)⁠ we can not be sure that a result from a similarity test will not come up as a convergence.

Another issue to consider is the character optimization and analysis, which basically have two different arguments: one that supports sequence alignment as a crucial step (Simmons and Freudenstein, 2003), and another that has proved that aligning base positions is not that fundamental and the optimization can be directly done (Wheeler 2001; Wheeler 2006)⁠. Wheeler introduced the concept of dynamic homology, which states that nucleotide homologies are topology specific and can be identified by optimization processes that determine nucleotide correspondence and transformation via a specific criterion. This method does not rely on a prior alignment, but analyses the variation, rendering likely cladograms.

Overall, it is evident that homology is a wide concept and its assessment is rather complex. There are several types of potential information and methods to analyze it properly. However, it is always necessary to bring the evolutionary histology and biology principles into the discussion, so one could be a little more positive about the obtained phylogenies, which at the end, are hypotheses that should constantly be evaluated until the phylogenetic relationships within a group are considered to be clear. As (Patterson 1982)⁠ stated, homology can be seen as a probability, as a result of any of the three tests, interpreting them is always a delicate task assigned to biologists.

References

Agnarsson, I. & Coddington, J.A., 2007. Cladistics Quantitative tests of primary homology. , 23, pp.1–11.
Brigandt, I., 2003. Homology in Comparative , Molecular , and Evolutionary Developmental Biology : The Radiation of a Concept. Journal of Experimental Zoology, 299, pp.9–17.
Eldredge, N, Cracraft, J., 1980. Phylogenetic Patterns and the Evolutionary Process,
Fitch, W.M., 2000. Homology a personal view on some of the problems. Homology, 16(5), pp.227–231.
Patterson, C., 1988. Homology in Classical and Molecular Biology. Molecular biology and evolution, 5(6), pp.603–625.
Patterson, C., 1982. Morphological characters and homology.
Pinna, M.C.C., 1991. Concepts and Tests of Homology in the Cladistic Paradigm. Cladistics, 7(4), pp.367–394. Available at: http://doi.wiley.com/10.1111/j.1096-0031.1991.tb00045.x.
De Pinna, M.C.C., 1991. Concepts and Tests of Homology in the Cladistic Paradigm. Cladistics, 7(4), pp.367–394. Available at: http://doi.wiley.com/10.1111/j.1096-0031.1991.tb00045.x.
De Queiroz, K., 1985. The ontogenetic method for determining character polarity and its relevance to phylogenetic systematics. Syst. Zool., 34, pp.280–299.
Rieppel, O., 1980. Homology, a deductive concept? Journal of Zoological Systematics and Evolutionary Research, 18(4), pp.315–319.
Wheeler, W., 2001. Homology and the Optimization of DNA Sequence Data. Cladistics, 17(1), pp.S3–S11. Available at: http://doi.wiley.com/10.1006/clad.2000.0154 [Accessed October 30, 2014].
Wheeler, W.C., 2006. Cladistics Dynamic homology and the likelihood criterion. , 22, pp.157–170.
Zelditch M.L., Fink W.L., S.D.L., 1995. Morphometrics, Homology, and Phylogenetics: Quantified Characters as Synapomorphies. Syst Biol, 44(2), pp.179–189.


¡All you need to know about homology!



To start you have to know the concept of this word in the biological context, so, homology is the existence of shared ancestry between a pair of structures, or genes, in different species. But around the application of this concept exists a large discussion. Moreover, (Brigandt, 2003) propose the idea of ‘radiation of a concept’, in which explain that homology can be different depending of the biological field in where is used. For example, he exposes four fields, molecular, developmental, evolutionary and comparative biology. First, in the last ones, the goals are the comparison and even taxonomy of species and characters and the explanation of descent with modification. In phylogenetic systematics, homology is a diagnostic for monophyletic groups, which helps to characterize taxa. The role of molecular homology is the inference of information about the molecular behavior of genes and proteins. Finally, (Brigandt, 2003) concludes that the goal in evolutionary developmental biology is to figure out how and why certain structures emerge in different ontogenies. If you want a detailed review of the most famous concepts of homology you can go to (Patterson, 1982).
Here, we are going to focus in an evolutionary and phylogenetic field in which you can found a definition from homology as synapomorphy (Patterson, 1982) and the concept that reveals ancestry and descent with modification. Nevertheless, (dePinna, 1991) cited Wagner 1989 and Roth 1988, who disagree with the idea of homology as synapomorphy of  (Patterson, 1982), argued that is a broader and extensive concept that should not be restricted in such way. On the other hand, (dePinna, 1991) also quote to deQueiroz 1985, he argued that homology is a notion that applies to instantaneous morphologies, while synapomorphy (according to his definition) applies to ontogenetic transformations that characterize monophyletic groups (his view of characters).
About the relation of homology and sinapomorphy, that does not have to be only attributable to Patterson 1982, (Eldredge & Cracraft, 1980) said that  “…. homology can be conceptualized simply as synapomorphy (including symplesiomorphy [...])”. However respect to this affirmation is obvious noted that symplesiomorphic similarities are homologous; it is a synapomorphy at a higher level. So, for example you can found two types of homology in that sense.

Taxic homology implies a hierarchy of groups, hypotheses of monophyly, and constitutes a statement about generality of characters, or "sameness" of attributes. And transformational homology is concerned with the transformation of one structure into another.

But how recognize the existence of a homology; some authors said that there are two classes of homology, primary and secondary, the first for (Agnarsson & Coddington, 2008) is a kind of background assumption or prior knowledge that you can based in similarity, and for (dePinna, 1991)is the (theory-laden but untested) supposition that two parts are the same by inheritance. In this way, (Agnarsson & Coddington, 2008) express “In systematic biology homology hypotheses are typically based on points of similarity and tested using congruence. Indeed testing similarity is the only way to test the homology of characters, as congruence only tests their states”. However, you can say that the homology is inherent to the character and not to their states.
So, I think that if the homology hypotheses pass the test of congruence and it fit to the topology then they are right.

(Rieppel & Kearney, 2002) reviewed the topic of primary homology and argued that things can be similar to greater or lesser degrees, at different scales, and in different independent ways. The secondary homology have resisted the test of congruence, emerged as synapomorphies on a cladogram (dePinna, 1991).

The problem of primary homology is not confined to morphological data. Aligning base positions in “homologous” sequences across different taxa is a crucial phase in molecular analysis, but one method in particular, “Direct Optimization”(Wheeler, 1996), search optimal trees via direct optimization, hence varying dynamically the primary homology hypotheses. From the three tests of homology proposed to date (similarity, conjunction and congruence) only congruence serves as a test in the strict sense (dePinna, 1991), in addition is complicated establish homologies based only in similarity and in prior knowledge of a single character, in contrast, you have to integrate some characters and parameters that help to identify true homologies. However, conjunction is unquestionably an indicator of non-homology, but it does not say when a homology appears.

On the side of molecular homology there are three disjoint subtypes of homology.

Orthology: is that relationship where sequence divergence follows speciation. In (Fitch, 2000).
The true phylogeny obtained from this sequences is exactly the same as the true phylogeny of the organisms from which the sequences were obtained. Only orthologous sequences have this property.

Paralogy is defined as that condition where sequence divergence follows gene duplication. In (Fitch, 2000).

Mixing paralogous with orthologous sequences it is posible obtain a tree that has the correct phylogeny for the sequences but not for the taxa from which they derive; a gene tree is not necessarily a species tree.

Xenology is defined as that condition (horizontal transfer) where the history of the gene involves an interspecies transfer of genetic material. In (Fitch, 2000).

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Agnarsson, I., & Coddington, J. A. (2008). Quantitative tests of primary homology. Cladistics, 24(1), 51–61. doi:10.1111/j.1096-0031.2007.00168.x
Brigandt, I. (2003). Homology in comparative, molecular, and evolutionary developmental biology: the radiation of a concept. Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 299(1), 9–17. doi:10.1002/jez.b.36
Eldredge, N., & Cracraft, J. (1980). Phylogenetic Patterns and the Evolutionary Process (method and theory in comparative biology). Retrieved from http://ciib.unam.mx:8080/xmlui/handle/123456789/6819
Fitch, W. M. (2000). Homology. Trends in Genetics, 16(5), 227–231. doi:10.1016/S0168-9525(00)02005-9
Patterson, C. (1982). Morphological characters and homology. In Problems of Phylogenetic Reconstruction (pp. 21–74).
Pinna, M. C. C. (1991). CONCEPTS AND TESTS OF HOMOLOGY IN THE CLADISTIC PARADIGM. Cladistics, 7(4), 367–394. doi:10.1111/j.1096-0031.1991.tb00045.x
Rieppel, O., & Kearney, M. (2002). Similarity. Biological Journal of the Linnean Society. doi:10.1046/j.1095-8312.2002.00006.x
Wheeler, W. C. (1996). Optimization Alignment: the End of Multiple Sequence Alignment in Phylogenetics? Cladistics, 12, 1–9. doi:10.1006/clad.1996.0001