deCODE genetics: Complete recombination map of the human-genome, a major step in genetics

Rhea-AI Summary

deCODE genetics, an Amgen subsidiary, has achieved a significant breakthrough by creating the first complete recombination map of the human genome, published in Nature. The research provides important insights into how DNA is mixed during reproduction, marking a major advancement in understanding genetic diversity and its impact on health and fertility.

The groundbreaking map includes previously difficult-to-detect shorter-scale shuffling of grandparental DNA and identifies areas devoid of major reshuffling. This research helps explain why some pregnancies fail and how the genome maintains a balance between diversity and stability. The study reveals important gender differences in recombination patterns, noting that women experience increased frequency of non-crossover recombinations with age, potentially explaining higher pregnancy risks in older mothers.

This advancement is particularly relevant for fertility research, as recombination errors can lead to serious reproductive issues affecting approximately one in ten couples worldwide. The study also demonstrates that mutations are elevated near DNA mixing regions, providing new understanding of human evolution and individual health outcomes.

Positive

• Publication in prestigious Nature journal enhances scientific credibility
• First-of-its-kind complete human genome recombination map strengthens AMGN's leadership in genetic research
• Research findings could lead to new fertility treatments and diagnostic tools
• Advances understanding of pregnancy complications and genetic disorders, opening potential new market opportunities

Negative

• None.

REYKJAVIK, Iceland, Jan. 22, 2025 /PRNewswire/ -- Complete recombination map of the human-genome, a major step in genetics

Scientists at deCODE genetics/Amgen have constructed a complete map of how human DNA is mixed as it is passed down during reproduction. The map marks a major step in the understanding of genetic diversity and its impact on health and fertility. It continues 25 years of research at deCODE genetics into how new diversity is generated in the human genome, and its relationship to health and disease.

The new map, appearing today in the online edition of Nature, is the first to incorporate shorter-scale shuffling, (non crossover) of grandparental DNA, which is difficult to detect due to the high DNA sequence similarity. The map also identifies areas of DNA that are devoid of major reshuffling, likely to protect critical genetic functions or prevent chromosomal problems. This insight offers a clearer picture of why some pregnancies fail and how the genome balances diversity with stability.

While this shuffling, known as recombination, is essential for genetic diversity, errors in the process can lead to serious reproductive issues. These failures can result in genetic errors that prevent pregnancies from continuing, helping to explain why infertility affects around one in ten couples worldwide. Understanding this process offers new hope for improving fertility treatments and diagnosing pregnancy complications.

The research also reveals key differences between men and women in how and where, the genome recombination occurs. Women have fewer non-crossover recombinatios, but their frequency increases with age, which may help explain why older maternal age is associated with higher risks of pregnancy complications and chromosomal disorders of the child. Men, however, do not show this age-related change, although recombination in both sexes can contribute to mutations passed to offspring.

Understanding the recombination process is also important in understanding how humans evolved as a species and what shapes individual differences, including health outcomes. All human genetic diversity can be traced to recombination and de novo mutations, DNA sequence present in the child but not in the parents. The map shows that mutations are elevated near regions of DNA mixing and consequently that the two processes are highly correlated.

Based in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding 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 that 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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SOURCE deCODE genetics

FAQ

What breakthrough did AMGN's deCODE genetics announce in January 2024?

deCODE genetics announced the creation of the first complete recombination map of the human genome, including shorter-scale DNA shuffling, published in Nature journal.

How could deCODE genetics' new genome map impact fertility treatments?

The map provides insights into DNA recombination errors that cause reproductive issues, potentially leading to improved fertility treatments and better diagnosis of pregnancy complications.

What is the significance of age-related findings in AMGN's genome research?

The research revealed that women experience increased frequency of non-crossover recombinations with age, helping explain higher pregnancy risks in older mothers.

How does deCODE's genome mapping research benefit AMGN's medical research capabilities?

The research enhances understanding of genetic diversity and its impact on health outcomes, potentially leading to new ways of diagnosing, treating, and preventing diseases.

What unique features does AMGN's new genome recombination map include?

The map is the first to incorporate shorter-scale shuffling of grandparental DNA and identifies areas devoid of major reshuffling that protect critical genetic functions.