Scientists from deCODE genetics/Amgen have created a complete map showing how human DNA is mixed as it is passed on during reproduction. The map represents an important step in understanding genetic diversity and its impact on health and fertility. It continues deCODE genetics’ 25 years of research into how new diversity emerges in the human genome and how it interacts with it Health and illness are related.
The new map, published today in the online edition of Nature published is the first to consider shorter shuffling (not crossover) of grandparental DNA, which is difficult to detect due to the high similarity of DNA sequences. The map also highlights areas of DNA without major restructuring, which are likely to protect important genetic functions or prevent chromosomal problems. This finding provides a clearer picture of why some pregnancies fail and how the genome balances diversity and stability.
Although this mixing, called recombination, is essential for genetic diversity, errors in the process can lead to serious reproductive problems. These errors can lead to genetic errors that prevent pregnancy from continuing, which explains the infertility of about one in ten couples worldwide. Understanding this process provides new hope for improving fertility treatments and diagnosing pregnancy complications.
The research also reveals important differences between men and women in how and where genome recombination occurs. Women have fewer non-crossover recombinations, but their frequency increases with age, which may explain why older maternal age is associated with a higher risk of pregnancy complications and chromosomal abnormalities in the child. In men, however, this age-related change is not observed, although recombination in both sexes can contribute to the mutations passed on to offspring.
Understanding the recombination process is also important for understanding how humans evolved as a species and what accounts for individual differences, including health outcomes. All human genetic diversity can be traced back to recombination and de novo mutations, i.e. DNA sequences that are present in the child but not in the parents. The map shows that mutations occur more frequently near regions where DNA mixes and that the two processes are therefore highly correlated.
Based in Reykjavik, Iceland, deCODE genetics is a global leader in the analysis and research of the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use this information to create new means of diagnosing, treating, and preventing disease. deCODE genetics is a wholly owned subsidiary of Amgen (NASDAQ:AMGN).
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