In a significant advancement in genetics, a scientific team has developed the first comprehensive map illustrating how human DNA from two parents combines in their offspring. This understanding of DNA combinations may lead to a deeper insight into genetic diversity and its relationship with human health and fertility.
Researchers from the Icelandic biopharmaceutical company deCODE genetics have constructed an extensive map detailing the ways human DNA merges during reproduction and transmits genetic information to descendants. This achievement marks a crucial milestone in understanding the connections between genes and human diseases.
According to a study published in the journal Nature, this map is the most complete of its kind to date, incorporating DNA information from grandparents, which is challenging to detect due to the high similarity of genetic sequences. The DNA combination atlas also identifies regions that do not reorganize during reproduction, likely intended to protect critical genetic functions or prevent chromosomal issues.
A press release states that the advancements made with this map provide a clearer picture of why some pregnancies fail and how the genome balances diversity with the stability of genetic information. Additionally, the analysis of identified combinations will unveil crucial questions surrounding the origins of certain genetic or hereditary diseases.
While it is known that gene mixing, termed recombination, is essential for genetic diversity, errors in this process can lead to serious reproductive issues. Such failures result in genetic errors that hinder pregnancy continuation, explaining why infertility affects approximately 10% of couples globally.
Understanding this process offers new hope for improving fertility treatments and diagnosing pregnancy complications. It also provides evidence of the significant differences between men and women regarding how and where genome recombination occurs.
The map indicates that women experience some recombinations more frequently as they age, which could explain why advanced maternal age is associated with greater risks of pregnancy complications and chromosomal disorders in offspring. In contrast, men do not exhibit this age-related change, although in both sexes, these recombinations may contribute to mutations passed to descendants.
Ultimately, grasping the recombination process also provides insights into human evolution and the formation of individual differences, including the development of certain diseases. Since all human genetic diversity can be traced back to recombination and mutations, scientists believe these processes are closely linked and significantly contribute to understanding the mechanisms influencing human health.