A team of scientists from the University of Granada and the Pfizer Center – University of Granada – Junta de Andalucía de Genomics e Investigación Oncológica (GENYO) has developed a genetic technique that allows the capture and analysis of the Y chromosome, one of the smallest in the genome human, and has not yet been fully sequenced.
Why is this important? Luis Javier Martínez González, head of GENYO’s Genomics Unit, explains: “The exclusive selection of the Y chromosome allows us a comprehensive analysis of it. Before, only a partial one was possible. This can provide us with key information on diseases influenced by chromosomal aberrations on the Y chromosome, such as male infertility, tumor alterations… ”.
Furthermore, this method can be applied to the study of other ailments not confined to this chromosome.
A genetic review
The Y chromosome is found only in males. Each human cell has 23 pairs of chromosomes, condensed strands of DNA that contain genetic information. Men and women share 22 of those chromosome pairs, but there is one where they differ: the sex chromosome pair. Males of the human species have a pair made up of an X chromosome and a Y chromosome, and females, one made up of two X chromosomes.
The Y chromosome is passed only from parent to child and is much smaller than the X: about 75 genes against 1,000. Some diseases and problems such as male infertility are exclusively linked to this male genetic package, so the more we know about it, the better we can combat them.
Hence the significance of this research published in the journal Scientific Reports (Nature).
The hunting method
To trap the human Y chromosome, the scientists used techniques called flow cytometry, laser microdissection, and hybridization capture, which enabled them to mark and characterize it, and then study it by sequencing.
But we don’t want to drown you in scientific terminology. The interesting thing is that the union of these methods allows the genetic characterization of variations in the Y chromosome that give clues about what is happening in certain regions of this that, when mutated, open the door to some tumors and diseases.
The line of research is promising. According to Mª Jesús Álvarez Cubero, professor at the Department of Biochemistry and Molecular Biology at the University of Granada (UGR) and one of the authors of the work, once the technique is fine-tuned, “we can extrapolate it to other chromosomes or regions of these. We are collaborating with colleagues from the UGR who want to characterize alterations in a chromosome with implications in tumor development, and we are working on molecular characterization techniques that are currently in high demand in the field of liquid biopsies ”(an advanced and non-invasive method of cancer detection ).
