作者: Jesse Bruijnesteijn , Marit K. H. van der Wiel , Nanine de Groot , Nel Otting , Annemiek J. M. de Vos-Rouweler
关键词: Copy-number variation 、 Alternative splicing 、 Cellular localization 、 Exon 、 RNA splicing 、 Gene isoform 、 Gene 、 Biology 、 Genetics 、 Intron
摘要: The killer-cell Ig-like receptors (KIR) form a multigene entity involved in modulating immune responses through interactions with MHC class I molecules. complexity of the KIR cluster is reflected by, for instance, abundant levels allelic polymorphism, gene copy number variation, and stochastic expression profiles. current transcriptome study involving human macaque families demonstrates that family members are also subjected to differential alternative splicing, this seems be dependent. Alternative splicing may result partial or complete skipping exons, inclusion introns, as documented at transcription level. This post-transcriptional process can generate multiple isoforms from single gene, which diversifies characteristics encoded proteins. For example, could modify ligand interactions, cellular localization, signaling properties, extracellular domains receptor. In humans, we observed KIR2DL4, lesser extent lineage III genes. All experimentally splice events substantiated by silico strength predictions. To similar extent, rhesus macaques, species shares close evolutionary relationship humans. Splicing profiles Mamu-KIR1D Mamu-KIR2DL04 displayed great diversity, whereas Mamu-KIR3DL20 (lineage V) consistently spliced homolog KIR2DL5 I). latter case represents an example convergent evolution. Although just event shared between humans mechanisms similar, predicted consequences comparable. conclusion, adds additional layer system primates, results wide structural functional variety its isoforms, play role health disease.