Gene critical to the biology of sex – Genetics News

Removal 1 . weight The gene during the early stages of embryonic genital formation leads to differences in sexual development in adult mice, according to a research paper published in the journal. Genetics PLOS The lecturer is directed by Ofelia Martinez Estrada from the Faculty of Biology and Research Institute of Biomedicine (IRBio) of the University of Barcelona.

Expert contributors to the article include Francesc X. Soriano, from the Department of Cell Biology, Physiology and Immunology, the UB Institute of Neurosciences (UBNeuro), and Manuel Rena, from the same department and from the Celltec UB research group.

A critical gene in the biology of sex

The 1 . weight The Wilms tumor gene is expressed during the embryonic development of mammals in many organs and tissues (urogenital tract, spleen, heart, diaphragm, etc.). In the scientific literature, mutations in the Wt1 gene are associated with specific diseases – syndromes such as Denys-Drash, Frasier, and Meacham – which include urogenital abnormalities and differences in sexual development (such as ambiguous genitalia or abnormal development of the gonads).

These differences in sexual development are congenital disorders in which the development of chromosomal, reproductive or anatomical sex is atypical. Despite efforts to understand the genetic factors behind these changes, in many cases the origin is unknown and it is difficult to make an accurate diagnosis for those affected.

Mouse models that introduce alterations in the expression of genes key to sexual development appear as critical components for studying this complex process in mammals. Thus, in recent years, new genetic tools have been created in mutant mouse models to study different aspects of the biology of WT1 embarrassed.

As part of the study, the team presents a new genetically modified mouse model (Wt1KO), which revealed the importance of the Wt1 gene in the initial differentiation of embryonic gonads in the early stages and its impact on the formation of the reproductive system of adult mice. According to the results, both men and women Wt1KO The mutant mice, unable to express the Wt1 gene in the reproductive organs since early stages of development, showed ambiguous genitalia and their gonads remained in an indifferent stage.

“In this study, we claim that 1 . weight Necessary for the activation of pathways that determine male and female sex development, because mutant embryonic gonads do not express the specific genes for each epigenetic program,” notes Prof.

Until now, it has been difficult to evaluate jobs WT1 A transcription factor—encoded by said gene—during early gonad differentiation and its effect on adult sexual development. Absence of gonad or reproductive system development (hypogonadism) and fetal lethality as described in Wt1KO Mutant mice have stymied progress in research to clarify the role of this gene in these developmental processes.

“Based on the results obtained, we suggest that this mouse model may contribute to improving knowledge of the functions of WT1 The gene is present in certain groups of progenitor cells in different organs and tissues, as well as the importance of these cell populations in organogenesis in adults,” concludes speaker Ophelia Martinez Estrada.

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