Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern. The hypothalamic-pituitary-gonadal axis and several genetic, environmental, and nutritional factors play an important role in the onset of and throughout puberty. Recently, there has been significant progress in identifying factors that affect normal pubertal timing. Different studies have identified single nucleotide polymorphisms (SNPs) that affect pubertal timing in both sexes and across ethnic groups. Single genes are implicated in both precocious and delayed puberty, and epigenetic mechanisms have been suggested to affect the development and function of the GnRH neuronal network and responsiveness of end organs. All these factors can influence normal puberty timing, precocious puberty, and delayed puberty. The objective of this review is to describe recent findings related to the genetic and epigenetic control of puberty and highlight the need to deepen the knowledge of the regulatory mechanisms of this process in the normal and abnormal context.

cell senescence is a state of limited cell proliferation during a stress response or as part of a programmed process. When a senescent cell stops dividing, maintaining metabolic activity contributes to cellular homeostasis maintenance. in this process, the cell cycle is arrested at the G0/G1 phase. p16 inK4a protein is a key regulator of this process via its cyclin-dependent kinase inhibitor (cdKi) function. CDKI 2A (CDKN2A)/p16 gene expression is regulated by dna methylation and histone acetylation. Sirtuins (SirTs) are nicotinamide dinucleotide (nad + )-dependent deacetylases that have properties which prevent diseases and reverse certain aspects of aging (such as immune, metabolic and cardiovascular diseases). By performing quantitative Pcr, Western blot, chiP, and sirnas assays, in this study it was demonstrated that CDKN2A/p16 gene transcriptional activation and repression were accompanied by selective deposition and elimination of histone acetylation during the senescence of MRC5 cells. Specifically, significant H3K9Ac and H3K18Ac enrichment in cells with a senescent phenotype concomitant with CDKN2A/p16 gene overexpression was demonstrated compared with the non-senescent phenotype. Furthermore, the presence of H3K18Ac in deacetyl-transferase SIRT7 knockdown Mrc5 cells allowed CDKN2A/p16 promoter activation. These results suggested that SIRT7 served as a critical component of an epigenetic mechanism involved in senescence mediated by the CDKN2A/p16 gene.

Electronic cigarettes (ECIGs) are electronic devices that heat and vaporize a solution that usually contains a mixture of glycerol, propylene glycol, water, flavors and various concentrations of nicotine. ECIGs have 3 key components: A power source, a cartridge containing an atomizer along with a liquid solution and a mouthpiece. The solution (often known as e-liquid or e-juice) is heated into an aerosol inhaled by the user. Smoking conventional cigarettes is considered a determinant factor in the development of chronic respiratory diseases, cardiovascular diseases, cancers, and reproductive system dysfunctions. Conventional smoking also causes genome damage and alteration of the transcriptome, due to the amounts of noxious substances emitted during the combustion of these products. Recently, cigarette consumers have begun to use ECIGs as a replacement or substitute practice to help them quit smoking. In addition, an increase in the use of ECIGs and similar devices by young individuals has been reported, which is unsurprising due to the unregulated distribution and sale of these products. The present review article describes and discusses the impact and the noxious effects of substances in ECIGs and other nicotine administration systems on DNA structure, gene expression profile, and epigenetic modification, focusing on the respiratory system and embryonic development.

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

El proceso transición epitelio mesénquima (TEM) permite que una célula epitelial de manera temporal, adquiera un fenotipo mesenquimal como respuesta a un estímulo interno o externo. Este proceso se caracteriza  por la activación y represión de genes involucrados en diferentes vías de señalización asociadas con migración, invasión y apoptosis, entre otros. En este proceso la epigenética cumple un papel fundamental. La epigenética comprende cuatro mecanismos: metilación de ADN, modificación covalente de histonas, ARN no codificantes (ARNnc) y complejos remodeladores de la cromatina, que regulan la expresión de un gen sin alterar su secuencia. En esta revisión de tema los autores describen los principales mecanismos epigenéticos involucrados en la regulación de la expresión de genes que se activan y reprimen concomitantemente en las tres fases del proceso TEM: fase no migratoria, fase premigratoria y fase migratoria.