जेनेटिक्स और जीनोम जर्नल

The discovery of MNK1 and TOP3A as novel risk-related genes calls for future research to unravel their specific mechanisms of action and their potential as diagnostic or therapeutic markers. Through integrative genomic analyses, we have identified and prioritized 14 functionally connected genes as risk-associated factors in endometriosis. These genes are significantly enriched in metabolic and immune-related pathways, highlighting their involvement in the disease's pathogenesis. The validation of aberrant gene expression levels and the discovery of novel genes, MNK1 and TOP3A, further reinforce their potential as key players in endometriosis. These findings provide valuable insights into the molecular mechanisms underlying endometriosis and pave the way for targeted therapeutic strategies in the future.

Researchers are studying the downstream effects of Fgf10 disruption on other genes and signaling pathways involved in limb development. By unraveling these intricate genetic cascades, scientists hope to gain a deeper understanding of the cellular processes and molecular interactions necessary for proper limb formation. The study of biallelic genomic mutations and Fgf10 knockout in gecko embryos offers valuable insights into the genetic basis of limb development. This research has implications not only for understanding the evolutionary significance of limb formation but also for regenerative medicine. Gecko species are known for their extraordinary regenerative capabilities, including the ability to regrow lost limbs. By elucidating the role of Fgf10 and other genes involved in limb development, scientists may unlock new strategies for promoting tissue regeneration and repair in humans.

Among vertebrates, olfaction is deemed the oldest and most valuable modes of sensory perception, nevertheless remain the least understood modalities. Most organisms use olfaction at varying grades in all aspects of their life to detect food, avoid predators and for mate choice. The olfactory receptor (OR) gene repertoire is the largest gene family within the mammalian genome. Although the OR gene superfamily constitutes 3 to 6% of mammalian genes and is well annotated and completed in the human and mouse genomes, it is still unclear which odorants bind to which receptors and how this complex process translates into recognising a specific smell. Examining the relatively closely related species that exhibit a high dietary diversity and olfaction can help discern the olfactory receptor genes identification and characterisation. Bats are potentially useful for this purpose. Bats represent one of the most fascinating mammals for studying the OR genes identification and characterisation, since bats exhibit an excellent olfactory performance. The OR genes identification studies among bat species have been rare in India. In fact, until recently, there is no systematic study of OR genes identification and characterisation in bats. In this study, we employ bioinformatics and molecular biology approaches to identify the unique and diverse OR genomic repertoire in bats. Our sequencing results suggest that both fruit and insect eating bat species expressed different OR genes. Over all a total of 37 OR genes (9 gene families) were identified from 10 different bat species. We generated a global multiple alignment of the deduced amino acid sequences of 37 OR genes from 10 bat species. The most variable region was found to be TM segments 3, 4 and 5, within which 17 hypervariable regions were identified. These regions which constitute the odorant complementarity determining regions are the potential sites for ligand binding. Taken together, our results suggest that the total number of OR genes and families vary widely among both fruit and insect eating bats. The wide variety of sensory specializations and modalities in bats could explain the variety and distinctness of the bat OR repertoire if reflected in the OR gene diversity.