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Functional analysis of a natural mutational hotspot in the proximal promoter of a stress-response gene in Drosophila

AuthorsMerenciano, Miriam; Ullastres, Ana ; González Pérez, Josefa
Issue DateJan-2016
CitationV Congreso de la Sociedad Española de Biología Evolutiva (2016)
AbstractMutational hotspots are common in disease genes and in complex genomic regions not amenable to sequencing by short reads technologies. However, it is not still clear what makes a particular genomic region more prone to mutations and whether the different mutations located in a hotspot are functionally equivalent. In this work, we have discovered and characterized in detail an insertional hotspot in the promoter region of a stress-response gene in the fruitfly Drosophila melanogaster. The nine transposable elements insertions described are clustered in a small 368 bp region and all belong to the same family of transposable elements: the roo family. Although the sequences of these insertions are hig hly similar, their molecular and functional consequences are different: only FBti0019985 insertion is associated with increased resistance to cold-stress. Interestingly, the previously described insertional hotspot in the D. melanogaster genome was also located in the promoter of a stress response gene suggesting that selection may favour the maintenance of genetic variability in these genes.
DescriptionTrabajo presentado en el V Congreso de la Sociedad Española de Biología Evolutiva (SESBE 2016), celebrado en Murcia del 18 al 21 de enero de 2016.
Appears in Collections:(IBE) Comunicaciones congresos
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