Highlighted papers

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology

Spataro, N.; Rodríguez, J.A.; Navarro, A.; Bosch, E.


Human Molecular Genetics, Volume 26, Issue 3, 1 February 2017, Pages 489–500 doi: 10.1093/hmg/ddw405


What makes variation in a gene cause disease? Do all the genes linked to pathologies have something in common? This study shows that, relative to non-disease genes, human disease genes have specific evolutionary profiles and protein network properties and that adaptive selection could also contribute to shaping their genetic architecture. Moreover, several biological features of human disease genes were found to depend on the type of pathology (complex or Mendelian) with which they are related. Additionally, results suggest that genetic variation in genes linked to Mendelian disorders plays an important role in causing susceptibility to complex disease.

Protein network and evolutionary properties of human genes. Scaled resampled mean values and resampling p-values for three different protein network parameters (A), dN/dS (B), and Tajima’s D and Fay and Wu’s H (C). END genes are shown in dark red, HD genes in light red, NDNE genes in grey. In the panels below each figure, the corresponding p-values for the different pairwise comparisons are represented. Below the diagonal are the p-values obtained when resampling the group in the column and comparing it to the mean of a whole set in the row. P-values above the diagonal are calculated resampling the group in the row and comparing it to the mean of a whole set in the column.

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