HSA 1/2/8/20 paralogon Co-duplicated groups

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 present day human 1/2/8/20 paralogon bearing chromosomes, topology comparison approach was employed for triplicated/quadruplicated gene families residing on this paralogon (Abbasi, 2010b; Abbasi and Grzeschik, 2007; Zhang and Nei, 1996). Gene families belonging to a particular co-duplicated group suggest that they share similar evolutionary history and might have originated through gene cluster duplication event, whereas genes belonging to different co-duplicated groups may not share their evolutionary history and might not have duplicated simultaneously. Duplication history summary of families residing on HSA:1/2/8/20 paralogon with respect to speciation events and identified co-duplication events are given in the following table.

Table: 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

For 36 multigene families residing on 1/2/8/20 bearing paralogon (HSA 1/2/8/20), 4 distinct co-duplicated groups were identified with gene families diversified within the time window of vertebrate-invertebrate and tetrapod-bony fish split. First co-duplicated group presented a topology of type ((Hsa20/Hsa2 Hsa1/Hsa13)(Hsa8/ChrX)) and suggests the simultaneous duplication of 2 gene families (Figure 1-A). Second co-duplicated group comprised members from 3 gene families and shows a topology of type (((Hsa1/Hsa6 Hsa8/Hsa6)Hsa20)Hsa1)(Figure 1-B). Third co-duplicated group included 6 gene families and shows a topology of type ((Hsa20 Hsa8/Hsa18)(Hsa1 Hsa8/Hsa6/Hsa2))(Figure 1-C). Fourth co-duplicated group also included 6 gene families and follows a topology of type ((Hsa20 Hsa8/Hsa2) Hsa2/Hsa1/Hsa8)(Figure 1-D).(Pervaiz et al, 2019; Hanif et al, 2012).



Figure 1: Schematic representation of paralogous genes residing in the proposed fourfold paralogy regions on Hsa 1/2/8/20. In each case the percentage bootstrap support is given in parentheses and only values ≥50% are presented here. The connecting bars on the left depict the close physical linkage. * Represents situation where a gene family member is not residing on 1/2/8/20 paralogon.


Useful references:


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. Biol. Direct 3, 50.

Abbasi, A.A., (2010b) Unraveling ancient segmental duplication events in human genome by phylogenetic analysis of multigene families residing on HOX-cluster paralogons. Mol Phylogenet Evol 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. Mol Phylogenet Evol 63, 922-927.

Ambreen, S., Khalil, F., Abbasi, A.A., (2014) Integrating large-scale phylogenetic datasets to dissect the ancient evolutionary history of vertebrate genome. Molecular phylogenetics and evolution 78, 1 -13.

Asrar, Z., Haq, F., Abbasi, A.A., (2013) Fourfold paralogy regions on human HOX-bearing chromosomes: role of ancient segmental duplications in the evolution of vertebrate genome. Mol Phylogenet Evol 66, 737-747.

Hughes, A.L., da Silva, J., Friedman, R., (2001) Ancient genome duplications did not structure the human Hox-bearing chromosomes. Genome research 11, 771 - 780.

Martin, A., (2001) Is tetralogy true? Lack of support for the “one-to-four rule”. Molecular biology and evolution, 89-93.

Zhang, J., & Nei, M. (1996) Evolution of Antennapedia-class homeobox genes.Genetics, 142(1), 295-303.