The scientist from the Department of Chemistry, Branimir Bertoša, along with former Department of Chemistry scientist Antun Barišić, in collaboration with researchers from various institutions, including the School of Medicine, University of Zagreb; the Ruđer Bošković Institute; the University of Tart; the company Genom; the University of Porto; the University of Utah; the University of Minnesota; and other institutions, published a scientific paper titled "Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility" in the journal Human Molecular Genetics (IF = 3.1).
In the presented study, a large and interdisciplinary team of scientists investigated male infertility. The study began in the Republic of Croatia and later expanded through collaboration with research groups worldwide to enable a more detailed and thorough interpretation of the results. The difference in fertility between two brothers was examined using various scientific research methods, ranging from genetics and molecular biology to computational simulations approaches. The research findings provided a potential explanation for the fertility difference at both the genetic and molecular levels. The contribution of scientists from the Department of Chemistry was the use of molecular dynamics simulations to offer a possible explanation for the molecular basis of the observed fertility difference between the two brothers. The results of the molecular dynamics simulations showed that the protein-DNA complexes of the wild-type DMRT1 protein and the DMRT1P74L mutant do not exhibit the same structural and dynamic properties. Since the interaction of the DMRT1 protein (Doublesex and mab-3 related transcription factor 1) with the major groove of DNA is crucial for testicular development, it is possible that the proline-to-leucine point mutation in the DMRT1 transcription factor is sufficient to cause male infertility.
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