Frequent birth-and-death events throughout perforin-1 evolution
- PDF / 2,556,660 Bytes
- 11 Pages / 595 x 791 pts Page_size
- 61 Downloads / 145 Views
(2020) 20:135
RESEARCH ARTICLE
Open Access
Frequent birth-and-death events throughout perforin-1 evolution Miguel Araujo-Voces1 and Víctor Quesada1,2*
Abstract Background: Through its ability to open pores in cell membranes, perforin-1 plays a key role in the immune system. Consistent with this role, the gene encoding perforin shows hallmarks of complex evolutionary events, including amplification and pseudogenization, in multiple species. A large proportion of these events occurred in phyla for which scarce genomic data were available. However, recent large-scale genomics projects have added a wealth of information on those phyla. Using this input, we annotated perforin-1 homologs in more than eighty species including mammals, reptiles, birds, amphibians and fishes. Results: We have annotated more than 400 perforin genes in all groups studied. Most mammalian species only have one perforin locus, which may contain a related pseudogene. However, we found four independent small expansions in unrelated members of this class. We could reconstruct the full-length coding sequences of only a few avian perforin genes, although we found incomplete and truncated forms of these gene in other birds. In the rest of reptilia, perforin-like genes can be found in at least three different loci containing up to twelve copies. Notably, mammals, non-avian reptiles, amphibians, and possibly teleosts share at least one perforin-1 locus as assessed by flanking genes. Finally, fish genomes contain multiple perforin loci with varying copy numbers and diverse exon/intron patterns. We have also found evidence for shorter genes with high similarity to the C2 domain of perforin in several teleosts. A preliminary analysis suggests that these genes arose at least twice during evolution from perforin-1 homologs. Conclusions: The assisted annotation of new genomic assemblies shows complex patterns of birth-and-death events in the evolution of perforin. These events include duplication/pseudogenization in mammals, multiple amplifications and losses in reptiles and fishes and at least one case of partial duplication with a novel start codon in fishes. Keywords: Perforin-1, Assisted annotation, Immune, Birth-and-death, Tandem duplication
Background Pore formation is an important step in the immune response in at least three settings: against extracellular bacteria, against virus-infected, cancer or senescent cells and against intracellular bacteria [1]. Regarding the second setting, killing damaged or malfunctioning endogenous cells (immunosurveillance) not only protects the organism against external viruses, but also fights tumor *Correspondence: [email protected] Departamento de Bioquímica y Biología Molecular - IUOPA, Universidad de Oviedo, C/ Fernando Bongera S/N, 33006 Oviedo, Spain 2 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain 1
development and premature aging. In fact, this activity is linked to hallmarks of cancer (avoid immune destructuion and tumor-promoting inflammation) [2] and aging (altered i
Data Loading...
