Evolutionary and polymorphism analyses reveal the central role of BTN3A2 in the concerted evolution of the BTN3 gene family

The butyrophilin 3 (BTN3) receptors are implicated in the T lymphocytes regulation and present a wide plasticity in mammals. In order to understand how these genes have been diversified, we studied their evolution and show that the three human BTN3 are the result of two successive duplications in Pr...

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Bibliographic Details
Published in:Immunogenetics (New York) 2017-06, Vol.69 (6), p.379-390
Main Authors: Afrache, Hassnae, Pontarotti, Pierre, Abi-Rached, Laurent, Olive, Daniel
Format: Article
Language:English
Subjects:
Alleles
Allergology
Amino Acid Sequence
Animals
Biochemistry, Molecular Biology
Biological evolution
Biomedical and Life Sciences
Biomedicine
Butyrophilins - chemistry
Butyrophilins - genetics
Butyrophilins - metabolism
Cell Biology
Codon
Evolution
Evolution, Molecular
Female
Gene Function
Gene sequencing
Genes
Genetics
Genomics - methods
Genotype
Homogenization
Human Genetics
Humans
Immunology
Life Sciences
Lymphocytes
Molecular biology
Multigene Family
Original Article
Phylogeny
Polymorphism
Polymorphism, Genetic
Primates
Primates - genetics
Protein Domains - genetics
Quantitative Methods
Receptors
Recombination, Genetic
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Summary:The butyrophilin 3 (BTN3) receptors are implicated in the T lymphocytes regulation and present a wide plasticity in mammals. In order to understand how these genes have been diversified, we studied their evolution and show that the three human BTN3 are the result of two successive duplications in Primates and that the three genes are present in Hominoids and the Old World Monkey groups. A thorough phylogenetic analysis reveals a concerted evolution of BTN3 characterized by a strong and recurrent homogenization of the region encoding the signal peptide and the immunoglobulin variable (IgV) domain in Hominoids, where the sequences of BTN3A1 or BTN3A3 are replaced by BTN3A2 sequence. In human, the analysis of the diversity of these genes in 1683 individuals representing 26 worldwide populations shows that the three genes are polymorphic, with more than 46 alleles for each gene, and marked by extreme homogenization of the IgV sequences. The same analysis performed for the BTN2 genes shows also a concerted evolution; however, it is not as strong and recurrent as for BTN3 . This study shows that BTN3 receptors are marked by extreme concerted evolution at the IgV domain and that BTN3A2 plays a central role in this evolution.
ISSN:0093-7711
1432-1211
DOI:10.1007/s00251-017-0980-z