A new study is revealing how the body produces red blood cells and the mechanism that regulates the amount of haemoglobin in red blood cells at any time. Using genome-wide analysis techniques, researchers have doubled the number of genetic regions likely to be involved in the formation of red blood cells. Subsequent fruit fly studies have gained some new insights into the function of these regions. Related achievements were published in the journal Nature.

Hemoglobin is a protein responsible for capturing oxygen from the lungs and transporting it to tissues. It changes the color of red blood cells to red. Every day, blood stem cells generate hundreds of millions of fresh red blood cells to replace those cells that have reached the end of their life cycle. If the production of fresh red blood cells is insufficient or their life cycle is shortened, it will lead to anemia. The new genetic information has laid a foundation for the future to reveal new biological signaling pathways and mechanisms regulating the size and quantity of red blood cells and hemoglobin levels, and to understand the root causes of anemia.

The researchers used genome-wide association studies to identify genetic regions that appear to affect the formation of red blood cells and their hemoglobin content.

The lead author of the paper, Dr. John Chambers of Imperial College London, said: "We studied the genetic effects behind six different physical parameters of red blood cells, which reflected the volume, number, and level of hemoglobin. The initial genetic association study investigated 135,367 The human genome has identified 75 genetic regions that directly affect these different traits of red blood cells. More than half (43 genetic regions) are new research findings. "

Using computational biology methods, the research team carefully examined these 75 genetic regions and the 3,000 genes responsible for protein production located near these regions. They prioritized 121 "candidate" genes in the list or genes that might regulate a certain trait of red blood cells. They used information from public data model systems and newly generated fruit fly data to investigate their functions.

The lead author of the paper, Professor Willem Ouwehand of the University of Cambridge and the NHS Blood and Transplant, said: "Our work shows how to use model systems such as fruit flies and mice to provide information on human genetics. Insights. We searched a mouse genome database and found that 29 of our 121 candidate genes were associated with mouse erythrocyte formation.

"Past studies have revealed that when the function of these genes is turned off, mice often suffer from a decrease in the number of red blood cells and anemia. The findings of these studies obtained in mice indicate that the remaining candidate genes that are currently unknown It may be that human red blood cells form an important regulator. "

For further research, the research team subsequently suppressed or “silenced” the activity of these candidate genes in Drosophila. Although Drosophila does not have red blood cells, they share some of the gene functions that cause the formation of blood components with humans. These studies confirm that the array of genes that control red blood cell traits in humans also play an important role in the formation of blood cells in Drosophila.

The lead author of the paper, Dr. Nicole Soranzo of the Wellcome Trust Sanger Institute, said: "These results support the view that the array genes identified by genetic association studies have evolved conservatively in a wide range of species. This is very exciting because it means We can gain new insights into the genetic and biological signaling pathways of human health by studying model organisms. "

"Although the basic mechanism of most of the genes we have identified remains to be clarified, our research work opens many doors for future research in the laboratory to generate blood cells for clinical use, and may provide some new insights to promote improved genetics. Treatment of patients with anemia. "

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