The mammalian PYHIN gene family: Phylogeny, evolution and expression

Cridland, Jasmyn A., Curley, Eva Z., Wykes, Michelle N ., Schroder, Kate, Sweet, Matthew J., Roberts, Tara L., Ragan, Mark A., Kassahn, Karin S. and Stacey, Katryn J. (2012) The mammalian PYHIN gene family: Phylogeny, evolution and expression. BMC Evolutionary Biology, 12 1: 140.1-140.33.


Author Cridland, Jasmyn A.
Curley, Eva Z.
Wykes, Michelle N .
Schroder, Kate
Sweet, Matthew J.
Roberts, Tara L.
Ragan, Mark A.
Kassahn, Karin S.
Stacey, Katryn J.
Title The mammalian PYHIN gene family: Phylogeny, evolution and expression
Journal name BMC Evolutionary Biology   Check publisher's open access policy
ISSN 1471-2148
Publication date 2012-08-07
Sub-type Article (original research)
DOI 10.1186/1471-2148-12-140
Volume 12
Issue 1
Start page 140.1
End page 140.33
Total pages 33
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2013
Language eng
Formatted abstract Background
Proteins of the mammalian PYHIN (IFI200/HIN-200) family are involved in defence against infection through recognition of foreign DNA. The family member absent in melanoma 2 (AIM2) binds cytosolic DNA via its HIN domain and initiates inflammasome formation via its pyrin domain. AIM2 lies within a cluster of related genes, many of which are uncharacterised in mouse. To better understand the evolution, orthology and function of these genes, we have documented the range of PYHIN genes present in representative mammalian species, and undertaken phylogenetic and expression analyses.

Results
No PYHIN genes are evident in non-mammals or monotremes, with a single member found in each of three marsupial genomes. Placental mammals show variable family expansions, from one gene in cow to four in human and 14 in mouse. A single HIN domain appears to have evolved in the common ancestor of marsupials and placental mammals, and duplicated to give rise to three distinct forms (HIN-A, -B and -C) in the placental mammal ancestor. Phylogenetic analyses showed that AIM2 HIN-C and pyrin domains clearly diverge from the rest of the family, and it is the only PYHIN protein with orthology across many species. Interestingly, although AIM2 is important in defence against some bacteria and viruses in mice, AIM2 is a pseudogene in cow, sheep, llama, dolphin, dog and elephant. The other 13 mouse genes have arisen by duplication and rearrangement within the lineage, which has allowed some diversification in expression patterns.

Conclusions

The role of AIM2 in forming the inflammasome is relatively well understood, but molecular interactions of other PYHIN proteins involved in defence against foreign DNA remain to be defined. The non-AIM2 PYHIN protein sequences are very distinct from AIM2, suggesting they vary in effector mechanism in response to foreign DNA, and may bind different DNA structures. The PYHIN family has highly varied gene composition between mammalian species due to lineage-specific duplication and loss, which probably indicates different adaptations for fighting infectious disease. Non-genomic DNA can indicate infection, or a mutagenic threat. We hypothesise that defence of the genome against endogenous retroelements has been an additional evolutionary driver for PYHIN proteins.
Open Access Mandate Compliance Yes - Open Access (Publisher DOI)
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Open Access Article

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
School of Chemistry and Molecular Biosciences
Institute for Molecular Bioscience - Publications
 
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Created: Fri, 31 Aug 2012, 14:26:30 EST by Dr Kate Schroder on behalf of ARC Centre for Complex Systems