Seven years ago, scientists deciphered the genetic blueprint of the human being. As always, the samples used were four men and not one woman. Only now, the Leiden University Medical Center (Holland) announces that it has deciphered the female genome.
After six months of research, they have succeeded in sequencing the DNA of a woman to obtain information that will be key to better understanding the genetic diversity of the human being. And, specifically, the X chromosome, one of the sex chromosomes of man and some mammals. The person in charge of the work, Gert-Jan van Ommen, says that “it was time to balance the ratio of the sexes” in this type of research. The DNA sample is from Marjolein Kriek, a 34-year-old geneticist from the Dutch team.
The female genome and the X chromosome
- Knowledge of the X chromosome is essential. Remember a little about genetics, the woman (XX) has two X chromosomes and the man (XY) has a combination of a Y chromosome and an X chromosome. More than 600 diseases are linked to the X chromosome either by the presence of more than one X chromosome in the cells or due to gene mutations. Among the diseases caused by the accumulation of an X chromosome, Down syndrome and Turner syndrome stand out.
- The sequencing of the first female genome is a symbol. The Human Genome Project managed to generate the first genome sequence in 2001 thanks to the combination of several donors. Then the genomes of James Watson, the father of DNA, Craig Venter, one of the pioneers of genetics, a Han Chinese, and a Yoruba African were deciphered. No trace, so far, of the female genetic universe.
- In the less and less distant future, the genetic roadmap may be used to develop personalized medical applications for each patient. As long as the necessary technology is achieved to lower the cost. The first map of the human genome required billions of euros. The objective is to democratize the price until it reaches around 800 euros.
What is the female genome?
- The female genome is the set of hereditary material of the woman’s organism, the sequence of nucleotides that specify the genetic instructions for its development and operation and that are transmitted from generation to generation, from parents to children. In addition to the genes themselves, it includes spacer regions, regulatory regions, remnants of genes that were once functional, and many other sequences with as yet unknown function or role, if any.
- In fact, in the female human genome, barely 1.5% of the hereditary material has a coding function, that is, it corresponds to what we usually understand by genes. Therefore, the genome of an organism is the repository of the information that allows each female body to develop and respond to the demands imposed by the environment. But, in addition, the female genome is the repository of the changes that, throughout the history of the corresponding species and of all its ancestors, have allowed its survival to this day. Consequently, information of two types is stored in the female genome: one of immediate utility for the organism and another that serves as a historical record of it and its ancestors.