Co-duplication Events

It was proposed that elucidation of intra-genomic syntenic regions through map self-comparison approach does not provide compelling support for the proposed mechanism of origin of paralogons (Abbasi, 2008). To present a plausible explanation of the evolutionary events that shaped the syntenic relationships seen on the paralogons: Hsa 1/2/8/20, Hsa 2/7/12/17, Hsa 4/5/8/10 and Hsa 1/6/9/19, topology comparison approach was employed for gene families with triplicated or quadruplicated representatives on these paralogons. Branching order of phylogenetic trees is the key process to estimate the origin of paralogons. From given phylogenies only those gene families are evaluated which have been diversified within the time window of vertebrates-invertebrates and tetrapods-teleosts split, to find out which genes might have duplicated concurrently. Correspondence among the topologies of distinct multigene families comprising human paralogons would suggest the existence of simultaneous block or segmental duplications (Abbasi, 2010a; Abbasi, 2010b; Abbasi and Grzeschik, 2007; Abbasi and Hanif, 2012; Hughes et al., 2001). Gene families share the evolutionary history and have duplicated in accordance with each other if they belong to the same co-duplicated group, while the genes belonging to different groups have dissimilar evolutionary histories and follow different timings for duplication events. Duplication history summary of families with respect to speciation events and identified coduplication events are given in the following table.

Table 1: The table provides the statistics of gene families distributed in different co-duplicated groups of HOX paralogon.
Chromosomes/Paralogon
HSA:2/7/12/17 (HOX-cluster Paralogon)
Name of
Co-duplicated group
Co-duplicated
Group A
Co-duplicated
Group B
Co-duplicated
Group C
Co-duplicated
Group D
Remaining
Families
Largely duplicated
in invertebrates
(prior to vertebrate
invertebrate split)
Total
No. of gene families1264924862

Table 2: The table provides the statistics of gene families distributed in different co-duplicated groups of FGFR paralogon.
Chromosomes/Paralogon
HSA:4/5/8/10 (FGFR-cluster Paralogon)
Name of
Co-duplicated group
Co-duplicated
Group A
Co-duplicated
Group B
Co-duplicated
Group C
Co-duplicated
Group D
Co-duplicated
Group E
Remaining
Families
Largely duplicated
in invertebrates
(prior to vertebrate
invertebrate split)
Total
No. of gene families6611181024882

Table 3: The table provides the statistics of gene families distributed in different co-duplicated groups of MHC paralogon.
Chromosomes/Paralogon
HSA:1/6/9/19 (MHC-cluster Paralogon)
Name of
Co-duplicated group
Co-duplicated
Group A
Co-duplicated
Group B
Co-duplicated
Group C
Co-duplicated
Group D
Co-duplicated
Group E
Co-duplicated
Group F
Remaining
Families
Largely duplicated
in invertebrates
(prior to vertebrate
invertebrate split)
Total
No. of gene families32139523440

Table 4: The table provides the statistics of gene families distributed in different co-duplicated groups of HSA:1/2/8/20.
Chromosomes/Paralogon
HSA:1/2/8/20
Name of
Co-duplicated group
Co-duplicated
Group A
Co-duplicated
Group B
Co-duplicated
Group C
Co-duplicated
Group D
Remaining
Families
Largely duplicated
in invertebrates
(prior to vertebrate
invertebrate split)
Total
No. of gene families236691036

Under the 2R assumption, the vertebrate quadruplicated gene families should exhibit a symmetric tree topology showing two clusters of two paralogs with invertebrates falling outside the cluster, referred as ((AB)(CD)invertebrates) (Figure 1:A) (Hughes, 1998; Martin, 2001). Asymmetrical topology of the form ((((AB)C)D)invertebrates) shows independent gene duplications during vertebrate history (Figure 1:B)(Abbasi, 2010a; Hughes et al., 2001). Whereas (((AB)invertebrates)((CD)invertebrates)) depicts ancient origin prior to vertebrate-invertebrate split (Figure 1:B).


Our dataset presents the phylogenetic history of total 221 human gene families. Among these families in total 133 families appeared to have been originated through co-duplication events after vertebrate-invertebrate split but prior to fish-tetrapod split.  




Figure 1: (A) Symmetric tree topology referred as ((AB)(CD)invertebrates)(B) Asymmetric tree topology referred as (((AB)C)invertebrates) and (C) Asymmetric tree topology referred as (((AB)invertebrates)((CD)invertebrates)).


Useful references:


Ambreen S, Khalil F, Abbasi AA (2014) Integrating large-scale phylogenetic datasets to dissect the ancient evolutionary history of vertebrate genome. Molecular Phylogenetics and Evolution, 78C, 1.

Hafeez, M., Shabbir, M., Altaf, F., and Abbasi, A.A. (2016) Phylogenomic analysis reveals ancient segmental duplications in the human genome. Molecular Phylogenetics and Evolution. 94 95-100.

Naz, R.; Tahir, S.; Abbasi, A. (2017)An insight into the evolutionary history of human MHC paralogon. Molecular Phylogenetics and Evolution.110, 1-6.

Pervaiz, N., Shakeel, N., Qasim, A. et al. (2019).Evolutionary history of the human multigene families reveals widespread gene duplications throughout the history of animals. BMC Evol Biol 19, 128.

Abbasi, A. A., (2008) Are we degenerate tetraploids? More genomes, New facts. Biology Direct 3:50.

Abbasi, A. A., (2010a) Piecemeal or big bangs: correlating the vertebrate evolution with proposed models of gene expansion events. Nat Rev Genet 11(2):166.

Abbasi, A. A., (2010b) Unraveling ancient segmental duplication events in human genome by phylogenetic analysis of multigene families residing on HOX cluster paralogons. Molecular Phylogenetics and Evolution. 57: 836-848.

Abbasi, A. A., Grzeschik, K. H., (2007) An insight into the phylogenetic history of HOX linked gene families in vertebrates. BMC Evol Biol 7:239.

Abbasi, A. A., Hanif, H., (2012) Phylogenetic history of paralogous gene quartets on human chromosomes 1, 2, 8 and 20 provides no evidence in favor of the vertebrate octoploidy hypothesis. Molecular Phylogenetics and Evolution, 63, 922-7.

Asrar Z et al.,(2013) Fourfold paralogy regions on human HOX-bearing chromosomes: Role of ancient segmental duplications in the evolution of vertebrate genome. Molecular Phylogenetics and Evolution 66(3), 737-47.

Hughes, A. L., (1998) Phylogenetic tests of the hypothesis of block duplication of homologous genes on human chromosomes 6, 9, and 1. Mol Biol Evol, 15, 854-70.

Hughes, A. L., da Silva, J., Friedman, R., (2001) Ancient genome duplications did not structure the human Hox-bearing chromosomes. Genome Res, 11, 771-80.

Martin, A., (2001) Is tetralogy true? Lack of support for the "one-to-four rule". Mol Biol Evol, 18, 89-93.