Skip to Main content Skip to Navigation
Journal articles

Region-specific expression of young small-scale duplications in the human central nervous system

Abstract : Background. The duplication of genes is one of the main genetic mechanisms that led to the gain in complexity of biological tissue. Although the implication of duplicated gene expression in brain evolution was extensively studied through comparisons between organs, their role in the regional specialization of the adult human central nervous system has not yet been well described. Results. Our work explored intra-organ expression properties of paralogs through multiple territories of the human central nervous system (CNS) using transcriptome data generated by the Genotype-Tissue Expression (GTEx) consortium. Interestingly, we found that paralogs were associated with region-specific expression in CNS, suggesting their involvement in the differentiation of these territories. Beside the influence of gene expression level on region-specificity, we observed the contribution of both duplication age and duplication type to the CNS region-specificity of paralogs. Indeed, we found that small scale duplicated genes (SSDs) and in particular ySSDs (SSDs younger than the 2 rounds of whole genome duplications) were more CNS region-specific than other paralogs. Next, by studying the two paralogs of ySSD pairs, we observed that when they were region-specific, they tend to be specific to the same region more often than for other paralogs, showing the high co-expression of ySSD pairs. The extension of this analysis to families of paralogs showed that the families with co-expressed gene members (i.e. homogeneous families) were enriched in ySSDs. Furthermore, these homogeneous families tended to be region-specific families, where the majority of their gene members were specifically expressed in the same region. Conclusions Overall, our study suggests the involvement of ySSDs in the differentiation of human central nervous system territories. Therefore, we show the relevance of exploring region-specific expression of paralogs at the intra-organ level.
Complete list of metadata
Contributor : Smahane CHALABI Connect in order to contact the contributor
Submitted on : Tuesday, September 28, 2021 - 4:32:08 PM
Last modification on : Saturday, June 25, 2022 - 8:28:53 PM
Long-term archiving on: : Wednesday, December 29, 2021 - 6:58:03 PM


Publisher files allowed on an open archive


Distributed under a Creative Commons Attribution 4.0 International License



Solène Brohard-Julien, Vincent Frouin, Vincent Meyer, Smahane Chalabi, Jean-François Deleuze, et al.. Region-specific expression of young small-scale duplications in the human central nervous system. BMC Ecology and Evolution, BMC, 2021, 21, pp.59. ⟨10.1186/s12862-021-01794-w⟩. ⟨hal-03353892⟩



Record views


Files downloads