Understanding the human genome through geometry

24.05.2022

Human DNA is complex, with over 20,000 genes and 3 billion nucleotide base pairs but these numbers only partially represent the heterogeneity present in our genes.

Numerous mathematical models have been used to help biologists understand and reduce this complexity. The most promising model derives from fractal geometry, making it possible to study repeating structures that Euclidean geometry cannot decipher. A fractal is a geometric object that repeats its shape again on different scales by enlarging any part of it, while ensuring that it remains similar to the original.

A National Research Council team - the Institute for Biomedical Research and Innovation (CNR-IRIB) of Messina and Cosenza, the Institute for system analysis and computer science "Antonio Ruberti" (CNR-IASI) of Rome, the Institute of cognitive sciences and technologies (CNR-ISTC) of Rome, and the University of Padua applied the concepts of fractal dimension on 1184 heathy subject of eleven global populations  (Yoruba in Ibadan, Nigeria; Japanese in Tokyo, Japan; Han Chinese in Beijing, China; American CEPH Utah residents with ancestry from northern and western Europe, Maasai in Kinyawa, Kenya; Luhya in Webuye, Kenya; Chinese in metropolitan Denver, CO, USA; Gujarati Indians in Houston, TX, USA; Toscani in Italia (Tuscans in Italy); African ancestry in the Southwest USA; and Mexican ancestry in Los Angeles, CA, USA) publishing the results in the International Journal of Neural Systems.

The data used in this study are part of the Human Genome Project (HapMap, phase 3), which stores the most important public global database sequencing of the entire human DNA of thousands of people.

The results obtained by the team of mathematicians, engineers, biologists and neuroscientists opens new avenues in the fractal characterization of genetic disease to better understand how they link to the degeneration of geometry in the structure of human DNA.