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Marton Doleschall
Beosztás: postdoctoral fellow
Végzettség: MSc, PhD
Telefon: +36(30)5364111
E-mail: doles [at]

Professional Experience

Postdoctoral fellow (human molecular genetics)

2008- Research Group for Inflammation Biology and Immunogenomics, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary, European Union (2008-2011), and 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary, European Union (2012-)

Postdoctoral fellow (gene regulation)

2006-2007 Laboratory of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary, European Union


Ph.D. (veterinary science)

The transcriptional regulation of the bovine neonatal Fc receptor.
(to view it click here » and here »)
Faculty of Veterinary Science, Szent Istvan University, Budapest, Hungary, European Union, 2007.

M.Sc. (biology and chemistry)

Investigation on the genetic variability of selected black locust and their open-pollinated progeny using RAPD and isozyme markers.
Faculty of Science, Eotvos Lorand University, Budapest, Hungary, European Union, 2002.

Research Interests

RCCX copy number variation

Homologous and tandem duplicated regions in the human genome are prone to special genetic rearrangements such as unequal crossover and non-allelic gene conversion, which result in the dynamic change and rapid evolution of duplicated regions and their gene contents. The multi-allelic and tandem RCCX copy number variation (CNV), as a recently duplicated region, provides an excellent genetic model for studying these special rearrangements and the evolution of CNVs. The combination of experimental haplotyping techniques (allele-specific long-range and allele-specific nested PCR) and bioinformatic methods (haplotype reconstruction, genealogical haplotype network) has been applied to the investigation of RCCX CNV and the two genes, the complement component 4 (C4) and the steroid 21-hydroxylase (CYP21A2), residing in its variable region.

Complex genetic markers (haplotypes) in studies on the function of protein variants

The particular alleles of adjacent genetic polymorphisms are not independent of each other, and the combination of these alleles on a chromosome is called a haplotype. The whole-gene haplotypes of a protein-coding gene produce protein variants, which may have slightly different degrees of biological activity. Moreover, the genetic variation of a gene in a population is structured into haplotypes, which are usually transmitted in one piece. Human genes often span thousands of kilobases, and can contain numerous polymorphisms; therefore, the determination of whole-gene haplotypes can be labor-intensive and costly. In these cases, the simplified halotypes, which are based on the preliminary sequence information and represent the complete genetic variation of the candidate gene, can be utilized to replace the whole-gene haplotypes. We perform candidate gene studies on the steroid 21-hydroxylase gene (CYP21A2) and von Willebrand factor-cleaving protease (ADAMTS13) using whole-gene and simplified haplotypes. The resultant haplotypes are analyzed by bioinformatic and statistical methods to reveal the genetic background to the biological activity of the different protein variants. The relationship between the haplotypes and the activity of protein variants may shed light on molecular pathomechanisms related to the target genes, and may serve as a basis for case-control studies.

Gene regulation in mammals

The cells of multicellular organisms have different structures to suit them to their unique functions. The different cellular structures and functions (phenotype) principally reflect the differences in the gene expression pattern formed by turning on or off the particular genes, even though all cells of an individual possess the same genome sequence (genotype). The process determining which genes are turned on or off is called gene regulation. Besides the gene expression pattern of cell types, gene regulation ensures the flexibility (phenotypic plasticity) of cells and individuals in response to changes in the environment. Mammalian gene regulation, especially the transcriptional regulation, was my research area during my doctoral and first postdoctoral years. The applied experimental techniques such as molecular cloning, site-directed mutagenesis, the transfection of primary cells and cell lines, luciferase report gene assay, in vitro DNA-protein interaction experiments, were supported by bioinformatic analyses.

Research training


Julianna A. Szabo

Biology MSc student – Molecular genetics, cell and developmental biology program, Faculty of Science, Eotvos Lorand University
Genetic investigation on the RCCX copy number variation and CYP21A2 gene
1st prize – 2012. Conference of Scientific Students' Associations, Metabolism, endocrinology and hematology section


(together with Prof. Zoltan Prohaszka)

Dorottya Szentivanyi

MD student – Faculty of Medicine, Semmelweis University
Genetic investigation on the ADAMTS13 gene
2nd prize – 2012. Conference of Scientific Students' Associations, Cardiovascular diseases, cardiology and pulmonology section
1st prize – 2011. Scientific Conference of Frigyes Koranyi, Basic research section


To view them click here »

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