Jornal de Genômica Clínica e Médica

The Magic of Deciphering the Structure and Function of the Genome

Abstract

Pia Cosma

The human genome contains all the genetic information necessary for the development and function of a human being. However, the human genome is not a simple linear sequence of genes, but rather a complex three-dimensional structure that regulates gene expression and function. Understanding the genome architecture and function is a fundamental goal of modern genomics, and has important implications for disease diagnosis, prevention, and treatment. The genome is organized into a hierarchy of structures, with DNA packaged into chromatin, which in turn is organized into chromosomes. The basic unit of chromatin is the nucleosome, which consists of DNA wrapped around a core of histone proteins. Nucleosomes can be further compacted into higher-order chromatin structures, which regulate gene expression and other genomic functions. The three-dimensional organization of the genome plays a critical role in gene regulation. Genes that are physically close to each other in the genome are more likely to be co-regulated, and their expression can be influenced by the physical proximity of other genomic elements, such as enhancers and promoters. Chromatin accessibility, or the ease with which DNA can be accessed by regulatory proteins, is also influenced by the three-dimensional organization of the genome.