Wissinger Lab

Molecular Genetics Laboratory

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Pablo Llavona

First namePablo
Position and TitlePhD student, Dipl.-Biochemistry, M.Sc.- Biomedicine & Molecular Oncology.

Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,

Phone: +49 (0)7071 29-87618

E-mail: pablo.llavona-juez[at]med.uni-tuebingen.de

Project descriptions

cis-eQTLs as potential modifiers for inherited retinal disorders

Concepts such as reduced or incomplete penetrance are frequently associated to retinal disorders (RD). It has been already proved that attending to the type or position of a particular mutation, the severity and onset of the disease varies. Although the literature is extensive when it comes to this terms, it remains rather unclear which is the cause for phenotypic variation in cases with the same genetic anomaly.

Our hypothesis for such variability relies on expression quantitative trait loci, also known as eQTL. This term refers to genomic loci that are able to modulate the amount of expression of a certain transcript. Attending to the capacity to influence the expression of one or two alleles for the same genomic locus, we can differentiate eQTLs in two groups. Trans-eQTLs are able to alter the expression of both alleles in a trans-acting manner, in other words both alleles are equally affected by the same genomic locus. On the other hand cis-eQTLs modulates transcription in a cis-regulatory manner, i.e one allele reacts, in terms of expression, differently from the other allele to the same genomic locus.

For this project we will focus on the study of cis-eQTLs as potential modifiers of allelic expression. We base our research on retinal RNA-Seq data from different healthy individuals. By making this first approach we are able to preliminary determine which eye disease causing genes undergo allelic imbalance. Secondly we validate these findings by pyrosequencing analysis both at genomic and transcription level. The ultimate step consists in tracking down the determining single nucleotide polymorphism (SNP) and finally to prove the certainty of this correlation by performing functional analysis.

As a major goal we expect to shed light on which eQTLs elicit allelic imbalance in retinal disorder causing genes in order to better understand the role of this phenomenon in cases of incomplete penetrance or variable onset of the disease.